Cardiac Conduction Defect |
|
Arrhythmia, Syncope |
OMIM:115080 |
Sinoatrial Node Dysfunction And Deafness |
|
Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia |
OMIM:614896 |
Epilepsy, Reading |
|
Seizure, EEG abnormality |
OMIM:132300 |
Epilepsy, Benign Occipital |
|
Seizure, EEG abnormality |
OMIM:132090 |
Atrial Fibrillation, Familial, 18 |
|
Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio... |
OMIM:617280 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... |
OMIM:604400 |
Cardiomyopathy, Dilated, 1E |
|
Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio... |
OMIM:601154 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4 |
|
Cardiac arrest, Sudden cardiac death, Ventricular tachycardia, Premature ventricular contraction,... |
OMIM:614916 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 18 |
|
Bradycardia |
OMIM:619521 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1 |
|
Right ventricular cardiomyopathy, Ventricular arrhythmia, Sudden cardiac death |
OMIM:107970 |
Long Qt Syndrome 13 |
|
Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri... |
OMIM:613485 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric... |
OMIM:614021 |
Supravalvular Aortic Stenosis |
|
Arrhythmia, Supravalvular aortic stenosis |
ORPHA:3193 |
Jervell And Lange-Nielsen Syndrome 2 |
|
Prolonged QT interval, Sudden cardiac death, Premature ventricular contraction, Syncope, Torsade ... |
OMIM:612347 |
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness |
|
Prolonged QT interval, Shock, Cardiac arrest, Polymorphic ventricular tachycardia, Premature vent... |
OMIM:615441 |
Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction |
OMIM:604401 |
Progressive Familial Heart Block, Type Ii |
|
Sudden cardiac death, Atrioventricular block, Complete heart block with narrow QRS complexes, Sin... |
OMIM:140400 |
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy |
|
Arrhythmia, Sudden cardiac death |
OMIM:212500 |
Atrial Standstill 1 |
|
Ventricular escape rhythm, Atrial cardiomyopathy, Paroxysmal atrial fibrillation, First degree at... |
OMIM:108770 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14 |
|
Ventricular tachycardia, Left bundle branch block, Premature ventricular contraction, Presyncope,... |
OMIM:618920 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4 |
|
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... |
OMIM:602087 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy |
|
Paroxysmal atrial fibrillation, Reduced systolic function, Bidirectional ventricular tachycardia,... |
OMIM:604772 |
His Bundle Tachycardia |
|
Junctional ectopic tachycardia, Cardiomyopathy, Arrhythmia |
ORPHA:3283 |
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome |
|
Left ventricular noncompaction cardiomyopathy, Sudden cardiac death, Torsade de pointes, Ventricu... |
OMIM:115000 |
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... |
OMIM:616117 |
Cardiomyopathy, Dilated, 1Oo |
|
Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre... |
OMIM:620247 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 |
|
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... |
OMIM:602086 |
Ventricular Fibrillation, Paroxysmal Familial, 2 |
|
Ventricular fibrillation, Sudden cardiac death, Premature ventricular contraction |
OMIM:612956 |
Long Qt Syndrome 15 |
|
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... |
OMIM:616249 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri... |
OMIM:610193 |
Long Qt Syndrome 10 |
|
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, T-wave alternans, Atrioventricu... |
OMIM:611819 |
Brugada Syndrome |
|
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... |
ORPHA:130 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Dyspnea, Syncope, Palpitations, Ventricul... |
OMIM:610476 |
Cardiomyopathy, Dilated, 1G |
|
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A... |
OMIM:604145 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 |
|
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia |
OMIM:611938 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Congestive heart failure, Ventricular tac... |
OMIM:607450 |
Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
Attention Deficit-Hyperactivity Disorder 8 |
|
Attention deficit hyperactivity disorder |
OMIM:619957 |
Jervell And Lange-Nielsen Syndrome 1 |
|
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval |
OMIM:220400 |
Progressive Familial Heart Block, Type Ib |
|
Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... |
OMIM:604559 |
Sick Sinus Syndrome 1 |
|
Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br... |
OMIM:608567 |
Atrioventricular Dissociation |
|
Congenital atrioventricular dissociation |
OMIM:209600 |
Familial Short Qt Syndrome |
|
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... |
ORPHA:51083 |
Epilepsy, Progressive Myoclonic, 12 |
|
Ataxia, Bilateral tonic-clonic seizure, Dysmetria, Depression, Myoclonus, Attention deficit hyper... |
OMIM:619191 |
Long Qt Syndrome 2 |
|
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... |
OMIM:613688 |
Cardiomyopathy, Dilated, 1P |
|
Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia |
OMIM:609909 |
Optic Atrophy 2 |
|
Tremor, Dysdiadochokinesis, Babinski sign |
OMIM:311050 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3 |
|
Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait |
OMIM:613227 |
Brugada Syndrome 2 |
|
Sudden cardiac death, First degree atrioventricular block, Right bundle branch block, Syncope, Pr... |
OMIM:611777 |
Long Qt Syndrome 6 |
|
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... |
OMIM:613693 |
Neurodevelopmental Disorder With Microcephaly, Ataxia, And Seizures |
|
Slender build, Bilateral tonic-clonic seizure, Ataxia, Aggressive behavior |
OMIM:617709 |
Congenital Heart Defects, Multiple Types, 3 |
|
Tachycardia, Atrial fibrillation, Atrioventricular block, Right bundle branch block, Atrioventric... |
OMIM:614954 |
Atrial Fibrillation, Familial, 9 |
|
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Syncope, Palpitations, Prolonged Q... |
OMIM:613980 |
Long Qt Syndrome 14 |
|
Prolonged QT interval, 2:1 atrioventricular block, Cardiac arrest, T-wave alternans, Prolonged QT... |
OMIM:616247 |
Long Qt Syndrome 9 |
|
Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a... |
OMIM:611818 |
Long Qt Syndrome 16 |
|
Second degree atrioventricular block, Prolonged QTc interval, T-wave alternans, Bradycardia |
OMIM:618782 |
Long Qt Syndrome 1 |
|
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval,... |
OMIM:192500 |
Heart-Hand Syndrome, Slovenian Type |
|
Abnormal atrioventricular conduction, Supraventricular arrhythmia, Dilated cardiomyopathy, Abnorm... |
ORPHA:168796 |
Cardiomyopathy, Familial Hypertrophic, 6 |
|
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... |
OMIM:600858 |
Cardiomyopathy, Dilated, 1A |
|
Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, C... |
OMIM:115200 |
Nathalie Syndrome |
|
Arrhythmia |
ORPHA:2663 |
Cardiomyopathy, Dilated, 1U |
|
Increased left ventricular end-diastolic volume, First degree atrioventricular block, Congestive ... |
OMIM:613694 |
Epilepsy, Nocturnal Frontal Lobe, 2 |
|
Depression, Bilateral tonic-clonic seizure, Aggressive behavior, Status epilepticus |
OMIM:603204 |
Sick Sinus Syndrome 4 |
|
Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation... |
OMIM:619464 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Cardiac arrest, Sudden cardiac death, Dy... |
OMIM:609040 |
Posterior Column Ataxia |
|
Impaired vibratory sensation, Ataxia, Impaired proprioception |
OMIM:176250 |
Primary Orthostatic Tremor |
|
Tremor, Abnormality of extrapyramidal motor function |
ORPHA:238606 |
Atrial Septal Defect 6 |
|
Atrial fibrillation, Bradycardia |
OMIM:613087 |
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Tachycardia, Syncope, Premature ventricular contraction |
OMIM:192445 |
Spinocerebellar Ataxia Type 27 |
|
Akinesia, Aggressive behavior, Tremor, Limb ataxia, Gait ataxia, Depression, Hand tremor, Gait di... |
ORPHA:98764 |
Developmental And Epileptic Encephalopathy 15 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Inability to walk, Myoclonic seiz... |
OMIM:615006 |
Gilles De La Tourette Syndrome |
|
Aggressive behavior, Phonic tics, Attention deficit hyperactivity disorder, Compulsive behaviors,... |
OMIM:137580 |
Cardiomyopathy, Dilated, 1V |
|
Increased left ventricular end-diastolic volume, Atrial fibrillation, First degree atrioventricul... |
OMIM:613697 |
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type) |
|
Bilateral tonic-clonic seizure, Ataxia, Myoclonic seizure, Depression, Seizure, Dementia, Myoclonus |
OMIM:162350 |
Long Qt Syndrome 11 |
|
Syncope, Prolonged QTc interval |
OMIM:611820 |
Progressive Familial Heart Block, Type Ia |
|
Sudden cardiac death, Left posterior fascicular block, Right bundle branch block, Syncope, Prolon... |
OMIM:113900 |
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type) |
|
Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Depression, Dementia, Myoclonus, Men... |
OMIM:204300 |
Brugada Syndrome 9 |
|
Prolonged QT interval, ST segment elevation, Palpitations, Presyncope |
OMIM:616399 |
Succinic Semialdehyde Dehydrogenase Deficiency |
|
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Ataxia, Status epilepticus |
ORPHA:22 |
Atrial Fibrillation, Familial, 3 |
|
Paroxysmal atrial fibrillation, Atrial fibrillation, Sudden cardiac death, Permanent atrial fibri... |
OMIM:607554 |
Cardiomyopathy, Dilated, 1B |
|
Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Impaired myocardial con... |
OMIM:600884 |
Autism, Susceptibility To, 20 |
|
Attention deficit hyperactivity disorder, Impaired social interactions, Compulsive behaviors |
OMIM:618830 |
Cardiomyopathy, Familial Hypertrophic, 3 |
|
Hypertrophic cardiomyopathy, Sudden cardiac death |
OMIM:115196 |
Primary Dystonia, Dyt13 Type |
|
Torticollis, Generalized dystonia, Postural tremor, Involuntary movements, Dystonia, Torsion dyst... |
ORPHA:98807 |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
Long Qt Syndrome 5 |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven... |
OMIM:613695 |
Benign Familial Neonatal-Infantile Seizures |
|
Apnea, Bilateral tonic-clonic seizure, Tonic seizure, Focal clonic seizure, Mental deterioration,... |
ORPHA:140927 |
Developmental And Epileptic Encephalopathy 43 |
|
Hyperactivity, Bilateral tonic-clonic seizure, Ataxia, Infantile spasms, Impulsivity, Myoclonic s... |
OMIM:617113 |
Episodic Ataxia, Type 1 |
|
Incoordination, Tremor, Babinski sign, Slurred speech, Episodic ataxia, Spastic gait |
OMIM:160120 |
Chromosome 15Q11-Q13 Duplication Syndrome |
|
Restrictive behavior, Bilateral tonic-clonic seizure, Unsteady gait, Impaired ability to form pee... |
OMIM:608636 |
Familial Progressive Cardiac Conduction Defect |
|
Bundle branch block, Heart block, Dyspnea, Congestive heart failure, Syncope, Arrhythmia |
ORPHA:871 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 |
|
Ventricular tachycardia, First degree atrioventricular block, Left bundle branch block |
OMIM:615616 |
Paroxysmal Extreme Pain Disorder |
|
Tachycardia, Bradycardia, Rhinorrhea |
OMIM:167400 |
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay |
|
Inability to walk, Bilateral tonic-clonic seizure, Attention deficit hyperactivity disorder, Aggr... |
OMIM:619639 |
Short Qt Syndrome 2 |
|
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul... |
OMIM:609621 |
Spinocerebellar Ataxia Type 15/16 |
|
Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anatomical site, Action t... |
ORPHA:98769 |
Cardiac Arrhythmia, Ankyrin-B-Related |
|
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope |
OMIM:600919 |
Epilepsy, Familial Temporal Lobe, 1 |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal autonomic ... |
OMIM:600512 |
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome |
|
Bundle branch block, Arrhythmia |
ORPHA:1479 |
Developmental And Epileptic Encephalopathy 9 |
|
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure, Aggressive... |
OMIM:300088 |
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia |
|
Sick sinus syndrome, Bradycardia |
OMIM:617173 |
Long Qt Syndrome 12 |
|
Syncope, Prolonged QTc interval, Ventricular fibrillation, Torsade de pointes |
OMIM:612955 |
Catecholaminergic Polymorphic Ventricular Tachycardia |
|
Syncope, Ventricular tachycardia, Sudden cardiac death |
ORPHA:3286 |
Parkinson Disease 24, Autosomal Dominant, Susceptibility To |
|
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication |
OMIM:619491 |
Sudden Infant Death Syndrome |
|
Apneic episodes in infancy |
OMIM:272120 |
Developmental And Epileptic Encephalopathy 104 |
|
Epileptic spasm, Hyperactivity, Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Se... |
OMIM:619970 |
Romano-Ward Syndrome |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Abnormal autonomic nervous system physiology, T... |
ORPHA:101016 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Atrial fibrillation, Cardiac arrest, Dilated cardiomyopathy, Atrioventricular block, Supraventric... |
OMIM:612158 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Ventricular tachycardia, T-wave inversio... |
OMIM:611528 |
Asperger Syndrome, Susceptibility To, 1 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:608638 |
Asperger Syndrome, Susceptibility To, 2 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:608631 |
Triglyceride Storage Disease, Type Ii |
|
Obesity |
OMIM:190430 |
Epilepsy, Progressive Myoclonic 7 |
|
Bilateral tonic-clonic seizure, Ataxia, Myoclonic seizure, Myoclonus, Mental deterioration |
OMIM:616187 |
Maturity-Onset Diabetes Of The Young, Type 11 |
|
Overweight, Obesity |
OMIM:613375 |
Wolff-Parkinson-White Syndrome |
|
Wolff-Parkinson-White syndrome, Atrial flutter, Paroxysmal atrial fibrillation, Prolonged QRS com... |
OMIM:194200 |
Left Ventricular Noncompaction 1 |
|
Noncompaction cardiomyopathy, Atrial fibrillation, Left ventricular noncompaction cardiomyopathy,... |
OMIM:604169 |
Corticobasal Syndrome |
|
Somatic sensory dysfunction, Dystonia, Akinesia, Tremor, Limb myoclonus, Bradykinesia, Dementia, ... |
ORPHA:454887 |
Atrial Standstill |
|
Ventricular escape rhythm, Cardiac conduction abnormality, Dyspnea, Atrial standstill, Congestive... |
ORPHA:1344 |
Butyrylcholinesterase Deficiency |
|
Apnea |
OMIM:617936 |
Dystonia 3, Torsion, X-Linked |
|
Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic... |
OMIM:314250 |
Brugada Syndrome 1 |
|
Atrial flutter, Atrial fibrillation, Cardiac arrest, Supraventricular tachycardia with an accesso... |
OMIM:601144 |
Chronic Atrial And Intestinal Dysrhythmia |
|
Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Mitral regurgitation, Sick sinus ... |
OMIM:616201 |
Atrial Septal Defect, Sinus Venosus Type |
|
Automatic atrial tachycardia, First degree atrioventricular block, Supraventricular tachycardia, ... |
ORPHA:99105 |
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Bilateral tonic-clonic seizure, Confusion, Ataxia, Focal-onset seizure, Gait ataxia, Depression, ... |
OMIM:615362 |
Attrv30M Amyloidosis |
|
Cardiomyopathy, Arrhythmia, Abnormal autonomic nervous system physiology, Atrioventricular block |
ORPHA:85447 |
Myopathy, Myofibrillar, 1 |
|
Respiratory insufficiency due to muscle weakness, Dilated cardiomyopathy, Third degree atrioventr... |
OMIM:601419 |
Tremor, Hereditary Essential, 6 |
|
Postural tremor, Kinetic tremor, Head tremor, Vocal tremor |
OMIM:618866 |
Atrial Fibrillation, Familial, 7 |
|
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad... |
OMIM:612240 |
Tremor, Hereditary Essential, 5 |
|
Kinetic tremor, Tongue tremor, Postural tremor, Intention tremor |
OMIM:616736 |
Long Qt Syndrome 8 |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolonged QTc int... |
OMIM:618447 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... |
OMIM:601493 |
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related |
|
Apnea, Rigidity, Respiratory insufficiency, Respiratory failure, Hypertonia |
OMIM:613869 |
Incessant Infant Ventricular Tachycardia |
|
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge... |
ORPHA:45453 |
Developmental And Epileptic Encephalopathy 24 |
|
Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Clonic seizure, Generalized non-moto... |
OMIM:615871 |
Episodic Ataxia With Slurred Speech |
|
Tremor, Slurred speech, Gait ataxia |
ORPHA:401953 |
Ravine Syndrome |
|
Apnea, Ataxia, Decreased body weight, Spasticity, Failure to thrive |
ORPHA:99852 |
Emery-Dreifuss Muscular Dystrophy 1, X-Linked |
|
Waddling gait, Absent P wave, Sudden cardiac death, First degree atrioventricular block, Atrioven... |
OMIM:310300 |
Benign Familial Infantile Epilepsy |
|
Psychomotor deterioration, Apnea, Bilateral tonic-clonic seizure with focal onset, Bilateral toni... |
ORPHA:306 |
Manganese Poisoning |
|
Postural tremor, Confusion, Akinesia, Aggressive behavior, Hypersexuality, Depression, Bradykines... |
ORPHA:306682 |
Polymicrogyria, Bilateral Temporooccipital |
|
Bilateral tonic-clonic seizure with focal onset, Aggressive behavior, Status epilepticus, Focal i... |
OMIM:612691 |
Epilepsy, Progressive Myoclonic, 8 |
|
Bilateral tonic-clonic seizure, Progressive neurologic deterioration, Limb ataxia, Choreoathetosi... |
OMIM:616230 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Ataxia, Tremor, Abnormal pyramidal sign, Myoclonus, Tetrapare... |
OMIM:615924 |
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures |
|
Ataxia, Focal motor status epilepticus, Aggressive behavior, Focal-onset seizure, Chorea, Poor co... |
OMIM:619150 |
Amelogenesis Imperfecta, Type Iiia |
|
Anterior open-bite malocclusion, Dental malocclusion, Amelogenesis imperfecta |
OMIM:130900 |
Long Qt Syndrome 3 |
|
Ventricular flutter, Sudden cardiac death, Ventricular tachycardia, Syncope, Torsade de pointes, ... |
OMIM:603830 |
Idiopathic Neonatal Atrial Flutter |
|
Respiratory distress, Abnormal EKG, Abnormal atrioventricular conduction, Tachypnea, Abnormal lef... |
ORPHA:45452 |
Parasomnia, Sleep Bruxism Type |
|
Myoclonus, Bruxism |
OMIM:606840 |
Surfactant Metabolism Dysfunction, Pulmonary, 4 |
|
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Tachypnea, Restric... |
OMIM:300770 |
Congenital Left Ventricular Aneurysm |
|
Apnea, Congestive heart failure, Abnormal ST segment, Abnormal T-wave, Arrhythmia |
ORPHA:1055 |
Myoclonic Epilepsy, Familial Infantile |
|
Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Limb ataxia, Gait ataxia, Impaired t... |
OMIM:605021 |
Landau-Kleffner Syndrome |
|
Gait ataxia, Steppage gait, Non-convulsive status epilepticus without coma, Hyperactivity, Bilate... |
ORPHA:98818 |
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome |
|
Heart block, Premature ventricular contraction |
ORPHA:1964 |
Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Ataxia, Tremor, Abnormal pyramidal sign, Seizure, Gait disturbance, Abnormality of extrapyramidal... |
OMIM:614561 |
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant |
|
Restlessness, Bilateral tonic-clonic seizure, Irritability, Focal impaired awareness seizure, Men... |
OMIM:610003 |
Intellectual Developmental Disorder, Autosomal Recessive 58 |
|
Aggressive behavior, Pica, Spastic diplegia, Choreoathetosis, Self-injurious behavior, Abnormal r... |
OMIM:617270 |
Congenital Heart Block |
|
First degree atrioventricular block, Crackles, Gallop rhythm, Congestive heart failure, Atriovent... |
ORPHA:60041 |
Lennox-Gastaut Syndrome |
|
Hyperactivity, Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Aggressive behavior... |
ORPHA:2382 |
Dravet Syndrome |
|
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Ataxia, Generalized clonic seizure... |
OMIM:607208 |
Ventricular Fibrillation, Paroxysmal Familial, 1 |
|
Tachycardia, Syncope, Ventricular fibrillation |
OMIM:603829 |
Tremor, Hereditary Essential, 1 |
|
Postural tremor, Hand tremor, Action tremor |
OMIM:190300 |
Spinocerebellar Ataxia 37 |
|
Ataxia, Tremor, Unsteady gait, Dysphagia, Frequent falls |
OMIM:615945 |
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures |
|
Bilateral tonic-clonic seizure, Aggressive behavior, Agitation, Status epilepticus, Emotional lab... |
OMIM:617171 |
Sudden Infant Death-Dysgenesis Of The Testes Syndrome |
|
Arrhythmia, Abnormal autonomic nervous system physiology, Cardiac arrest, Hypothermia |
ORPHA:168593 |
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome |
|
Freezing of gait, Akinesia, Tremor, Unsteady gait, Neuromuscular dysphagia, Bradykinesia, Blephar... |
ORPHA:240094 |
Cardiomyopathy, Familial Hypertrophic, 26 |
|
Atrial fibrillation, Sudden cardiac death, Congestive heart failure, Permanent atrial fibrillatio... |
OMIM:617047 |
Ventricular Tachycardia, Familial |
|
Right bundle branch block, Cardiomyopathy, Paroxysmal ventricular tachycardia, Sudden cardiac death |
OMIM:192605 |
Amelogenesis Imperfecta |
|
Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t... |
ORPHA:88661 |
Spinocerebellar Ataxia 20 |
|
Postural tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal tremor, Action tremor |
OMIM:608687 |
Glycogen Storage Disease Vi |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, ... |
OMIM:232700 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia6 |
|
Anterior open-bite malocclusion, Enamel hypomineralization, Amelogenesis imperfecta |
OMIM:617217 |
Spinocerebellar Ataxia Type 31 |
|
Tremor, Spasticity, Impaired vibratory sensation, Gait ataxia |
ORPHA:217012 |
Primary Condylar Hyperplasia |
|
Anterior open-bite malocclusion, Abnormality of the temporomandibular joint, Macrodontia, Abnorma... |
ORPHA:477781 |
Illum Syndrome |
|
Temperature instability, Apnea, Bradycardia |
OMIM:208155 |
Myoclonic Epilepsy Of Unverricht And Lundborg |
|
Bilateral tonic-clonic seizure, Ataxia, Generalized non-motor (absence) seizure, Dementia, Myoclo... |
OMIM:254800 |
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Small for gestat... |
OMIM:245570 |
Dystonia 27 |
|
Torticollis, Postural tremor, Writer's cramp, Limb dystonia, Oromandibular dystonia, Laryngeal dy... |
OMIM:616411 |
Dystonia 11, Myoclonic |
|
Torticollis, Writer's cramp, Tremor, Myoclonus, Compulsive behaviors |
OMIM:159900 |
Primary Dystonia, Dyt27 Type |
|
Axial dystonia, Writer's cramp, Upper limb postural tremor, Focal dystonia, Limb dystonia, Oroman... |
ORPHA:464440 |
Brugada Syndrome 3 |
|
Atrial fibrillation, J wave, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular ar... |
OMIM:611875 |
Kufor-Rakeb Syndrome |
|
Torticollis, Dystonia, Ataxia, Akinesia, Aggressive behavior, Tremor, Distal sensory impairment, ... |
OMIM:606693 |
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Inappropriate behavior, Myoclonus, Dystonia, Uppe... |
ORPHA:401901 |
Cleft Palate, Isolated |
|
Micrognathia, Gingival overgrowth, Cleft palate, Anterior open-bite malocclusion, Increased overbite |
OMIM:119540 |
Maple Syrup Urine Disease |
|
Hemiplegia/hemiparesis, Ataxia, Respiratory insufficiency |
ORPHA:511 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6 |
|
Bradykinesia, Lethargy, Chorea, Ataxia |
OMIM:618683 |
Neurodegeneration With Brain Iron Accumulation 5 |
|
Akinesia, Aggressive behavior, Tremor, Bradykinesia, Seizure, Dementia, Dystonia, Mental deterior... |
OMIM:300894 |
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Tremor, Seizure, Ataxia, Scoliosis |
OMIM:213000 |
Spontaneous Periodic Hypothermia |
|
Arrhythmia, Abnormal pattern of respiration, Hypothermia |
ORPHA:29822 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
Myoclonus, Familial, 1 |
|
Ataxia, Myoclonus, Action myoclonus, Frequent falls, Action tremor |
OMIM:614937 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Apnea, Hypothermia, Cardiorespiratory arrest, Stridor, Bronchospasm, Bradycardia, Abnormal patter... |
OMIM:608800 |
Epilepsy, Progressive Myoclonic, 6 |
|
Bilateral tonic-clonic seizure, Ataxia, Generalized non-motor (absence) seizure, Loss of ambulati... |
OMIM:614018 |
Cardiomyopathy, Dilated, 1D |
|
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... |
OMIM:601494 |
Perry Syndrome |
|
Akinesia, Tremor, Frontotemporal dementia, Depression, Bradykinesia, Weight loss, Inappropriate b... |
OMIM:168605 |
Sick Sinus Syndrome 2 |
|
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... |
OMIM:163800 |
Jervell And Lange-Nielsen Syndrome |
|
Syncope, Torsade de pointes, Arrhythmia, Prolonged QTc interval, Ventricular fibrillation |
ORPHA:90647 |
Developmental And Epileptic Encephalopathy 31A |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Inability to walk, Atypical absen... |
OMIM:616346 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities, With Or Without Seizures |
|
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Myoclonic seizure, Atonic seizure |
OMIM:619964 |
Atrial Fibrillation, Familial, 15 |
|
Supraventricular tachycardia, Atrial flutter, Atrial fibrillation, Sudden cardiac death |
OMIM:615770 |
Myasthenic Syndrome, Congenital, 18 |
|
Neonatal respiratory distress, Ataxia, Difficulty walking |
OMIM:616330 |
Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Respiratory distress, Tremor, Rigidity, Neuromuscular dysphagia, Depression, Bradykinesia, Falls,... |
ORPHA:240085 |
Spinocerebellar Ataxia 21 |
|
Ataxia, Postural tremor, Akinesia, Aggressive behavior, Impulsivity, Limb ataxia, Gait ataxia, Pr... |
OMIM:607454 |
Desminopathy |
|
Supraventricular arrhythmia, Sudden cardiac death, Respiratory insufficiency due to muscle weakne... |
ORPHA:98909 |
Intellectual Developmental Disorder, Autosomal Dominant 69 |
|
Bilateral tonic-clonic seizure, Attention deficit hyperactivity disorder |
OMIM:617863 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Cardiac arrest, Ventricular tachycardia, Atrioventricular block, Cardiorespiratory arrest, Premat... |
OMIM:212138 |
Sudden Cardiac Failure, Infantile |
|
Sudden cardiac death, Myocarditis, Congestive heart failure, Bradycardia, Hypertrophic cardiomyop... |
OMIM:617222 |
Epilepsy, Familial Adult Myoclonic, 1 |
|
Bilateral tonic-clonic seizure, Jerk-locked premyoclonus spikes, EEG with irregular generalized s... |
OMIM:601068 |
Cardiomyopathy, Familial Hypertrophic, 12 |
|
Paroxysmal atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Reduced left ventr... |
OMIM:612124 |
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant |
|
Sudden cardiac death, First degree atrioventricular block, Dilated cardiomyopathy, Syncope, Reduc... |
OMIM:181350 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Tachypnea, Respiratory failure, Cough, Failure to thrive |
OMIM:263000 |
Congenital Myopathy 5 With Cardiomyopathy |
|
Sudden cardiac death, Congestive heart failure, Atrioventricular reentrant tachycardia, Dilated c... |
OMIM:611705 |
Atrial Fibrillation, Familial, 4 |
|
Paroxysmal atrial fibrillation, Atrial fibrillation, Permanent atrial fibrillation, Palpitations,... |
OMIM:611493 |
Left Ventricular Noncompaction 8 |
|
Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ... |
OMIM:615373 |
Respiratory Distress Syndrome In Premature Infants |
|
Respiratory distress, Dyspnea, Neonatal respiratory distress, Tachypnea |
OMIM:267450 |
Developmental And Epileptic Encephalopathy 59 |
|
Bilateral tonic-clonic seizure, Ataxia, Infantile spasms, Tonic seizure, Inability to walk, Self-... |
OMIM:617904 |
Huntington Disease-Like 2 |
|
Parkinsonism, Involuntary movements, Chorea, Weight loss, Dementia, Gait disturbance, Dystonia, M... |
ORPHA:98934 |
Obesity |
|
Increased waist to hip ratio, Obesity |
OMIM:601665 |
Atypical Juvenile Parkinsonism |
|
Resting tremor, Akinesia, Inability to walk, Gait ataxia, Bradykinesia, Seizure, Shuffling gait, ... |
ORPHA:391411 |
Cardiomyopathy, Familial Hypertrophic, 1 |
|
Congestive heart failure, Arrhythmia, Asymmetric septal hypertrophy |
OMIM:192600 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Failure to thrive in in... |
ORPHA:264675 |
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Sick sinus syndrome, Bradycardia |
OMIM:617182 |
Huntington Disease |
|
Clonus, Oral-pharyngeal dysphagia, Chorea, Compulsive behaviors, Decreased body mass index, Depre... |
ORPHA:399 |
Spinocerebellar Ataxia 48 |
|
Ataxia, Bilateral tonic-clonic seizure, Cachexia, Chorea, Dysmetria, Gait ataxia, Depression, Irr... |
OMIM:618093 |
Cardiomyopathy, Familial Hypertrophic, 25 |
|
Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy |
OMIM:607487 |
Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Lethargy, Failure to thrive, Gait disturbance, Anorexia |
ORPHA:79283 |
Cardiomyopathy, Dilated, 1Nn |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D... |
OMIM:615916 |
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis |
|
Tremor, Spastic paraplegia |
OMIM:309560 |
Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Hyperactivity, Spasticity, Bruxism, Aggressive behavior |
OMIM:615493 |
X-Linked Intellectual Disability-Plagiocephaly Syndrome |
|
Bradycardia |
ORPHA:2898 |
Autism, Susceptibility To, X-Linked 3 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:300496 |
Autism, Susceptibility To, X-Linked 1 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:300425 |
Atrial Fibrillation, Familial, 10 |
|
Atrial flutter, Tricuspid regurgitation, Paroxysmal atrial fibrillation, Permanent atrial fibrill... |
OMIM:614022 |
Spastic Paraplegia 18B, Autosomal Recessive |
|
Lower limb spasticity, Inability to walk, Kyphosis, Babinski sign, Spastic paraplegia, Ankle clon... |
OMIM:611225 |
Glut1 Deficiency Syndrome 1 |
|
Ataxia, Confusion, Choreoathetosis, EEG abnormality, Lethargy, Paroxysmal lethargy |
OMIM:606777 |
Female Restricted Epilepsy With Intellectual Disability |
|
Hyperactivity, Bilateral tonic-clonic seizure, Impulsivity, Generalized clonic seizure, Aggressiv... |
ORPHA:101039 |
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism |
|
Resting tremor, Bilateral tonic-clonic seizure, Postural tremor, Akinesia, Focal motor seizure, B... |
OMIM:619911 |
Coenzyme Q10 Deficiency, Primary, 5 |
|
Hypothermia, Bradycardia, Respiratory insufficiency |
OMIM:614654 |
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities |
|
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:617787 |
Juvenile Huntington Disease |
|
Broad-based gait, Hyperactivity, Ataxia, Dystonia, Rigidity, Chorea, Gait ataxia, Bradykinesia, S... |
ORPHA:248111 |
Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Tremor, Chorea, Abnormal pyramidal sign, Focal dystonia, Compulsive behaviors, Limb dystonia, Par... |
ORPHA:216873 |
Dentinogenesis Imperfecta, Shields Type Iii |
|
Dental enamel pits, Odontodysplasia, Periapical bone loss, Anterior open-bite malocclusion, Denti... |
OMIM:125500 |
Isolated Congenital Hypoglossia/Aglossia |
|
Respiratory distress, Micrognathia, Dyspnea, Temporomandibular joint ankylosis, Upper airway obst... |
ORPHA:141152 |
Cardiomyopathy, Familial Hypertrophic, 7 |
|
Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, Atrial fibrillation, Apical hypertro... |
OMIM:613690 |
Spinocerebellar Ataxia 43 |
|
Ataxia, Tremor, Rigidity, Limb ataxia, Gait ataxia, Distal sensory impairment |
OMIM:617018 |
Epilepsy, Familial Temporal Lobe, 5 |
|
Visually-induced seizure, Bilateral tonic-clonic seizure, Focal aware seizure, Focal impaired awa... |
OMIM:614417 |
Timothy Syndrome |
|
Prolonged QT interval, Pneumonia, Hypothermia, Ventricular tachycardia, Atrioventricular block, B... |
OMIM:601005 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Central apnea, Ataxia, Confusion, Chorea, Choreoathetosis, Seizure, Status epilepticus, Myoclonus... |
ORPHA:71277 |
Spermatogenic Failure, X-Linked, 1 |
|
Obesity |
OMIM:305700 |
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Obesity, Limb dystonia, Intrauterine growth r... |
OMIM:620270 |
N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress, Confusion, Aggressive behavior, Cognitive impairment, Lethargy, Failure to ... |
OMIM:237310 |
Polymicrogyria, Bilateral Perisylvian, X-Linked |
|
Atypical absence seizure, Pseudobulbar paralysis, Bilateral tonic-clonic seizure, Cognitive impai... |
OMIM:300388 |
Myoclonic Epilepsy Of Infancy |
|
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Photosensitive tonic-clonic seizur... |
ORPHA:86909 |
Krabbe Disease, Atypical, Due To Saposin A Deficiency |
|
Central apnea, Progressive neurologic deterioration, Tonic seizure, Respiratory insufficiency, Re... |
OMIM:611722 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 15 |
|
Bilateral tonic-clonic seizure, Aggressive behavior, Generalized non-motor (absence) seizure, Eye... |
OMIM:618357 |
Chronic Pneumonitis Of Infancy |
|
Respiratory distress, Intercostal retractions, Reduced forced vital capacity, Tachypnea, Hypoxemi... |
ORPHA:91359 |
Developmental And Epileptic Encephalopathy 92 |
|
Ataxia, Inability to walk, EEG abnormality, Difficulty walking, Lethargy |
OMIM:617829 |
Mitochondrial Complex I Deficiency, Nuclear Type 13 |
|
Fever, Apnea, Cardiac arrest, Bradycardia, Hypertrophic cardiomyopathy |
OMIM:618235 |
Homocystinuria Without Methylmalonic Aciduria |
|
Lethargy, Failure to thrive, Dementia, Ataxia |
ORPHA:622 |
Migraine, Familial Hemiplegic, 1 |
|
Ataxia, Confusion, Tremor, Hemiparesis, Seizure, Agitation, Hemiplegia |
OMIM:141500 |
Spinocerebellar Ataxia Type 21 |
|
Akinesia, Tremor, Gait ataxia, Progressive cerebellar ataxia, Cognitive impairment |
ORPHA:98773 |
Autosomal Recessive Spastic Paraplegia Type 71 |
|
Lower limb spasticity, Babinski sign, Hand tremor, Spastic gait, Progressive spastic paraplegia |
ORPHA:401840 |
Cardiomyopathy, Dilated, 1R |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:613424 |
Guanidinoacetate Methyltransferase Deficiency |
|
Hyperactivity, Bilateral tonic-clonic seizure, Ataxia, Aggressive behavior, Chorea, Seizure, Athe... |
ORPHA:382 |
Spinocerebellar Ataxia Type 12 |
|
Ataxia, Postural tremor, Action tremor, Unsteady gait, Bradykinesia, Dementia, Gait disturbance, ... |
ORPHA:98762 |
Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap... |
OMIM:254210 |
Dystonia 16 |
|
Torticollis, Postural tremor, Parkinsonism, Unsteady gait, Abnormal pyramidal sign, Dysphagia, Br... |
ORPHA:210571 |
Hypertriglyceridemia 2 |
|
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:619324 |
Cardiomyopathy, Familial Hypertrophic, 16 |
|
Orthopnea, Atrial fibrillation, Sudden cardiac death, Dyspnea, Ventricular tachycardia, Left bund... |
OMIM:613838 |
Myasthenic Syndrome, Congenital, 16 |
|
Apnea, Gait disturbance, Periodic paralysis |
OMIM:614198 |
Continuous Spikes And Waves During Sleep |
|
Bilateral tonic-clonic seizure, Aggressive behavior, Focal hemiclonic seizure, Focal-onset seizur... |
ORPHA:725 |
Recurrent Respiratory Papillomatosis |
|
Respiratory distress, Nonproductive cough, Wheezing, Tachypnea, Dyspnea, Upper airway obstruction... |
ORPHA:60032 |
Mitochondrial Complex I Deficiency, Nuclear Type 3 |
|
Hepatomegaly, Ataxia, Abnormal pyramidal sign, Respiratory insufficiency, Abnormality of extrapyr... |
OMIM:618224 |
Short Qt Syndrome 1 |
|
Paroxysmal atrial fibrillation, Cardiac arrest, Sudden cardiac death, Shortened QT interval, Sync... |
OMIM:609620 |
Spinocerebellar Ataxia 40 |
|
Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadoch... |
OMIM:616053 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia1 |
|
Carious teeth, Enamel hypomineralization, Anterior open-bite malocclusion, Yellow-brown discolora... |
OMIM:204700 |
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive |
|
Respiratory failure requiring assisted ventilation, Bradycardia, Respiratory insufficiency |
OMIM:620265 |
Episodic Kinesigenic Dyskinesia 2 |
|
Chorea, Paroxysmal dyskinesia, Involuntary movements, Dystonia |
OMIM:611031 |
Tremor Of Intention, Ataxia, And Lipofuscinosis |
|
Ataxia, Intention tremor |
OMIM:190200 |
Bronchopulmonary Dysplasia |
|
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Small fo... |
ORPHA:70589 |
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures |
|
Bilateral tonic-clonic seizure, Ataxia, Generalized non-motor (absence) seizure, Myoclonic seizur... |
OMIM:617831 |
Citrullinemia Type I |
|
Torticollis, Ataxia, Tachypnea, Slurred speech, Ankle clonus, Lethargy, Spasticity, Failure to th... |
ORPHA:247525 |
Ceroid Lipofuscinosis, Neuronal, 10 |
|
Apnea, Ataxia, Respiratory insufficiency, Myoclonic seizure, Seizure, Respiratory failure, Status... |
OMIM:610127 |
Epilepsy, Familial Temporal Lobe, 8 |
|
Bilateral tonic-clonic seizure with focal onset, Focal aware autonomic seizure with epigastric se... |
OMIM:616461 |
Episodic Ataxia, Type 8 |
|
Episodic ataxia, Slurred speech, Ataxia, Intention tremor |
OMIM:616055 |
Autosomal Dominant Epilepsy With Auditory Features |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo... |
ORPHA:101046 |
Primary Erythromelalgia |
|
Vasculitis, Hypothermia |
ORPHA:90026 |
Developmental And Epileptic Encephalopathy 26 |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Infantile spasms... |
OMIM:616056 |
Parkinson Disease 13, Autosomal Dominant, Susceptibility To |
|
Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia |
OMIM:610297 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Hypertrophic cardiomyopathy, Respiratory failure, Apnea, Bradycardia |
OMIM:616277 |
Huntington Disease-Like 2 |
|
Rigidity, Chorea, Subcortical dementia, Weight loss, Bradykinesia, Irritability, Depression, Deme... |
OMIM:606438 |
Autism, Susceptibility To, 8 |
|
Restrictive behavior, Impaired ability to form peer relationships, Seizure, Abnormal repetitive m... |
OMIM:607373 |
Autism |
|
Restrictive behavior, Impaired ability to form peer relationships, Seizure, Abnormal repetitive m... |
OMIM:209850 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Large for gestational age, Bruxism, Aggressive behavior |
ORPHA:356996 |
Developmental And Epileptic Encephalopathy 101 |
|
Third degree atrioventricular block, Apnea, Bradycardia |
OMIM:619814 |
Joubert Syndrome 23 |
|
Tachypnea, Apnea |
OMIM:616490 |
Folinic Acid-Responsive Seizures |
|
Respiratory distress, Broad-based gait, Apnea, Ataxia, Clonic seizure, Chorea, Irritability, Seiz... |
ORPHA:79097 |
X-Linked Spinocerebellar Ataxia Type 4 |
|
Postural tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Dementia, Difficulty wal... |
ORPHA:85292 |
Developmental And Epileptic Encephalopathy 33 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Aggressive behavior, Typical absence seizure, Un... |
OMIM:616409 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Respiratory distress, Apraxia, Somatic sensory dysfunction, Progressive extrapyramidal muscular r... |
ORPHA:240103 |
Cardiomyopathy, Dilated, 1Bb |
|
Increased left ventricular end-diastolic volume, Dyspnea, Congestive heart failure, Dilated cardi... |
OMIM:612877 |
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Atrial fibrillation, Bradycardia |
OMIM:614302 |
Cardiomyopathy, Dilated, 1O |
|
Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co... |
OMIM:608569 |
Parkinsonism With Spasticity, X-Linked |
|
Resting tremor, Parkinsonism, Babinski sign, Cogwheel rigidity, Bradykinesia, Spasticity |
OMIM:300911 |
Generalized Epilepsy With Febrile Seizures-Plus |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Generaliz... |
ORPHA:36387 |
Autoimmune Interstitial Lung, Joint, And Kidney Disease |
|
Dyspnea, Tachypnea, Restrictive ventilatory defect, Cough, Decreased DLCO |
OMIM:616414 |
Developmental And Epileptic Encephalopathy 61 |
|
Apnea, Bilateral tonic-clonic seizure with focal onset, Seizure, Focal clonic seizure, Loss of am... |
OMIM:617933 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Apnea, Episodic tachypnea, Bilateral tonic-clonic seizure, Loss of ambulation, Depression, Seizur... |
ORPHA:79264 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Ataxia, Seizure, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Abnorm... |
OMIM:618709 |
Naxos Disease |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... |
OMIM:601214 |
Developmental And Epileptic Encephalopathy 74 |
|
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Typical absence seizure, Myoclon... |
OMIM:618396 |
Brugada Syndrome 6 |
|
ST segment elevation, Ventricular fibrillation, Cardiac arrest |
OMIM:613119 |
Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Bilateral tonic-clonic seizure, Aggressive behavior, Abnormal fear-induced behavior, Seizure, Pse... |
ORPHA:208441 |
Lopes-Maciel-Rodan Syndrome |
|
Tremor, Kyphosis, Unsteady gait, Abnormal pyramidal sign, Bruxism, Dysphagia, Bradykinesia, Seizu... |
OMIM:617435 |
Tremor, Hereditary Essential, 4 |
|
Postural tremor, Action tremor |
OMIM:614782 |
Cardiomyopathy, Dilated, 1Dd |
|
Left ventricular systolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Sudden c... |
OMIM:613172 |
Short Qt Syndrome 7 |
|
Cardiac arrest, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular fibrillation |
OMIM:620231 |
Joubert Syndrome 33 |
|
Oculomotor apraxia, Apnea, Ataxia |
OMIM:617767 |
Muscular Dystrophy, Progressive Pectorodorsal |
|
Arrhythmia |
OMIM:310095 |
Encephalopathy Due To Prosaposin Deficiency |
|
Hepatomegaly, Bilateral tonic-clonic seizure, Splenomegaly, Respiratory insufficiency, Myoclonus |
ORPHA:139406 |
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8 |
|
Mental deterioration, EEG abnormality, Confusion, Lethargy |
OMIM:617900 |
Adult Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Seizure, Dementia, Abnormality of extrapyram... |
ORPHA:79262 |
Intellectual Developmental Disorder With Autism And Speech Delay |
|
Inability to walk, Abnormal repetitive mannerisms, Impaired social interactions |
OMIM:606053 |
Developmental And Epileptic Encephalopathy 109 |
|
Hyperactivity, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Typical a... |
OMIM:620145 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7 |
|
Tremor, Vocal cord paresis, Vocal cord paralysis, Difficulty walking |
OMIM:158580 |
Infant Acute Respiratory Distress Syndrome |
|
Tachycardia, Pneumonia, Cardiac arrest, Nasal flaring, Tachypnea, Hypoxemia, Respiratory failure,... |
ORPHA:70587 |
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive |
|
Involuntary movements, Inability to walk, Seizure, Self-injurious behavior, Impaired social inter... |
OMIM:617820 |
Central Hypoventilation Syndrome, Congenital, 3 |
|
Apnea, Central hypoventilation, Respiratory failure, Episodic hypertension, Heat intolerance |
OMIM:619483 |
Hypothyroidism, Congenital, Nongoitrous, 7 |
|
Growth delay, Lethargy, Short stature |
OMIM:618573 |
Atypical Rett Syndrome |
|
Sudden episodic apnea, Episodic tachypnea, Involuntary movements, Impaired pain sensation, Tremor... |
ORPHA:3095 |
Classic Progressive Supranuclear Palsy Syndrome |
|
Axial dystonia, Akinesia, Impulsivity, Tremor, Neuromuscular dysphagia, Social and occupational d... |
ORPHA:240071 |
Cardiomyopathy, Familial Hypertrophic, 14 |
|
Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc... |
OMIM:613251 |
Intellectual Developmental Disorder, Autosomal Recessive 77 |
|
Unsteady gait, Head tremor, Self-biting |
OMIM:619988 |
Cardiomyopathy, Familial Hypertrophic, 8 |
|
Cardiac arrest, Sudden cardiac death, Congestive heart failure, T-wave inversion, Reduced left ve... |
OMIM:608751 |
Oligodontia |
|
Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ... |
ORPHA:99798 |
Muscular Dystrophy, Becker Type |
|
Abnormal EKG, Arrhythmia, Cardiomyopathy |
OMIM:300376 |
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia |
OMIM:618425 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 9 |
|
Episodic ataxia, Bilateral tonic-clonic seizure, Typical absence seizure, Generalized non-motor (... |
OMIM:607682 |
Sandhoff Disease, Adult Form |
|
Tremor, Dysphagia, Focal dystonia, Gait ataxia, Fasciculations, Dystonia, Spasticity |
ORPHA:309169 |
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Ataxia, Tremor, Babinski sign, Cognitive impairment, Spasticity |
OMIM:611105 |
Joubert Syndrome 7 |
|
Central apnea, Ataxia, Episodic tachypnea, Tachypnea, Oculomotor apraxia, Neonatal breathing dysr... |
OMIM:611560 |
Epilepsy, Familial Adult Myoclonic, 4 |
|
EEG with polyspike wave complexes, Bilateral tonic-clonic seizure, Jerk-locked premyoclonus spike... |
OMIM:615127 |
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy |
|
Broad-based gait, Bilateral tonic-clonic seizure, Aggressive behavior, Focal-onset seizure, Gener... |
OMIM:619157 |
Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap... |
OMIM:605809 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Respiratory distress, Transient ischemic attack, Cardiac arrest, First degree atrioventricular bl... |
OMIM:115197 |
Cardiomyopathy, Dilated, 2F |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:619747 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Pain insensitivity, Ataxia, Impaired distal proprioception, Impaired vibration sensation in the l... |
ORPHA:94124 |
Spinocerebellar Ataxia, X-Linked 5 |
|
Ataxia, Action tremor |
OMIM:300703 |
Tako-Tsubo Cardiomyopathy |
|
Prolonged QTc interval, Mildly reduced left ventricular ejection fraction, Bradycardia, Hypotensi... |
ORPHA:66529 |
Seizures, Benign Familial Infantile, 1 |
|
Generalized-onset seizure, Apnea, Bilateral tonic-clonic seizure with focal onset, Focal-onset se... |
OMIM:601764 |
Stxbp1-Related Encephalopathy |
|
Epileptic spasm, Hyperactivity, Ataxia, Bilateral tonic-clonic seizure with focal onset, Infantil... |
ORPHA:599373 |
Intellectual Developmental Disorder, Autosomal Recessive 66 |
|
Gait ataxia, Shyness, Attention deficit hyperactivity disorder, Aggressive behavior |
OMIM:618221 |
Atrial Fibrillation, Familial, 11 |
|
Reduced left ventricular ejection fraction, Prolonged P wave, Atrial fibrillation, Prolonged QRS ... |
OMIM:614049 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 3 |
|
Seizure, Bilateral tonic-clonic seizure |
OMIM:608762 |
Laryngotracheal Angioma |
|
Respiratory distress, Intercostal retractions, Apnea, Wheezing, Stridor, Cough |
ORPHA:137935 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Left ventricular diastolic dysfun... |
OMIM:618052 |
Leber Hereditary Optic Neuropathy |
|
Ataxia, Retinal telangiectasia, Optic atrophy, Ventricular preexcitation, Arrhythmia |
ORPHA:104 |
Isolated Focal Cortical Dysplasia |
|
Psychomotor deterioration, Epileptic spasm, Generalized-onset seizure, Bilateral tonic-clonic sei... |
ORPHA:65683 |
Developmental And Epileptic Encephalopathy 67 |
|
Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Generalized non-motor (a... |
OMIM:618141 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Elevated circulating acylcarnitine concentration, Hypertonia, Dystonia, Let... |
ORPHA:26792 |
Developmental And Epileptic Encephalopathy 53 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Progressive neurologic deterioration, Tonic seiz... |
OMIM:617389 |
Amelogenesis Imperfecta, Type Ic |
|
Enamel hypomineralization, Anterior open-bite malocclusion, Taurodontia, Yellow-brown discolorati... |
OMIM:204650 |
Parkinson Disease 11, Autosomal Dominant, Susceptibility To |
|
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk... |
OMIM:607688 |
Cardiomyopathy, Familial Hypertrophic, 29, With Polyglucosan Bodies |
|
Sudden cardiac death, Left ventricular outflow tract obstruction, Reduced left ventricular endsys... |
OMIM:620236 |
Narcolepsy Type 1 |
|
Cataplexy, Slurred speech, Obesity |
ORPHA:2073 |
Pulmonary Hypertension, Primary, 4 |
|
Atrial flutter, Pulmonary arterial hypertension with lack of acute response to NO challenge, Firs... |
OMIM:615344 |
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures |
|
Decreased forced expiratory flow 25-75%, Premature ventricular contraction |
OMIM:617072 |
Cardiomyopathy, Familial Hypertrophic, 10 |
|
Sudden cardiac death, Dyspnea, Ventricular tachycardia, Left bundle branch block, Asymmetric sept... |
OMIM:608758 |
Cardiomyopathy, Dilated, 1L |
|
Increased left ventricular end-diastolic volume, Reduced systolic function, Sudden cardiac death,... |
OMIM:606685 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Aortic regurgitation, Tricuspid regurgitation, Hypothermia, Tachypnea, Reduced left ventricular e... |
OMIM:616501 |
Cdkl5-Deficiency Disorder |
|
Infantile spasms, Impaired pain sensation, Focal-onset seizure, Kyphosis, Synophrys, Bruxism, Gai... |
ORPHA:505652 |
Myoclonus, Intractable, Neonatal |
|
Apnea, Clonic seizure, Chorea, Athetosis, Myoclonus, Dysphagia, Impaired oral bolus formation |
OMIM:617235 |
Coenzyme Q10 Deficiency, Primary, 7 |
|
Hypertrophic cardiomyopathy, Bradycardia, Respiratory insufficiency |
OMIM:616276 |
Florid Cemento-Osseous Dysplasia |
|
Jaw swelling, Mandibular osteomyelitis, Supernumerary tooth, Dental malocclusion, Oral ulcer, Abn... |
ORPHA:83451 |
Malignant Hyperthermia Of Anesthesia |
|
Fever, Hypercapnia, High-output congestive heart failure, Tachypnea, Ventricular tachycardia, Mal... |
ORPHA:423 |
Atrial Fibrillation, Familial, 14 |
|
ST segment elevation, Paroxysmal atrial fibrillation, Hypertension, Prolonged PR interval |
OMIM:615378 |
Atrial Septal Defect, Ostium Primum Type |
|
First degree atrioventricular block, Tachypnea, Atrioventricular block, Fixed splitting of the se... |
ORPHA:99106 |
3-Methylglutaconic Aciduria, Type V |
|
Prolonged QT interval, Noncompaction cardiomyopathy, Ataxia, Elevated circulating aspartate amino... |
OMIM:610198 |
Amelogenesis Imperfecta, Type Ih |
|
Dental enamel pits, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth, Ena... |
OMIM:616221 |
Dystonia 16 |
|
Generalized dystonia, Postural tremor, Parkinsonism, Involuntary movements, Abnormal pyramidal si... |
OMIM:612067 |
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies |
|
Arrhythmia |
OMIM:618453 |
Sick Sinus Syndrome 3, Susceptibility To |
|
Sick sinus syndrome |
OMIM:614090 |
Benign Familial Neonatal Epilepsy |
|
Apnea, Simple febrile seizure, Focal-onset seizure, Focal autonomic seizure, Focal tonic seizure,... |
ORPHA:1949 |
Segawa Syndrome, Autosomal Recessive |
|
Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo... |
OMIM:605407 |
Intellectual Developmental Disorder, Autosomal Recessive 6 |
|
Torticollis, Kinetic tremor, Postural tremor, Involuntary movements, Myoclonus |
OMIM:611092 |
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Absence seizure with eyelid myoclonia, Bilateral tonic-clonic seizure, Generalized myoclonic-aton... |
OMIM:618587 |
Glycine Encephalopathy 1 |
|
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Irritability, Lethargy, Agenesis o... |
OMIM:605899 |
Developmental And Epileptic Encephalopathy 40 |
|
Small for gestational age, Spastic tetraparesis, Choreoathetosis, Myoclonus, Lethargy, Spasticity |
OMIM:617065 |
Malignant Hyperthermia, Susceptibility To, 5 |
|
Fever, Tachycardia, Malignant hyperthermia |
OMIM:601887 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Lower limb spasticity, Hyperactivity, Broad-based gait, Short stature, Parkinsonism, Anorexia, Ag... |
ORPHA:3077 |
Rolandic Epilepsy |
|
Short attention span, Focal hemifacial clonic seizure, Bilateral tonic-clonic seizure with focal ... |
ORPHA:1945 |
Cardiomyopathy, Familial Hypertrophic, 13 |
|
Atrial fibrillation, Angina pectoris, Dyspnea, Concentric hypertrophic cardiomyopathy, Right bund... |
OMIM:613243 |
Salt And Pepper Developmental Regression Syndrome |
|
Bilateral tonic-clonic seizure, Choreoathetosis, Irritability, Status epilepticus, Myoclonus, Fai... |
OMIM:609056 |
Pontocerebellar Hypoplasia Type 4 |
|
Central apnea, Respiratory failure requiring assisted ventilation, Hypertonia, Myoclonus |
ORPHA:166063 |
Developmental And Epileptic Encephalopathy 6B |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Ataxia, Tonic seizure, Focal hemiclonic seizure,... |
OMIM:619317 |
Perioral Myoclonia With Absences |
|
Bilateral tonic-clonic seizure, Focal seizure with eyelid myoclonia, Generalized non-motor (absen... |
ORPHA:139426 |
Behavioral Variant Of Frontotemporal Dementia |
|
Restrictive behavior, Collectionism, Restlessness, Bilateral tonic-clonic seizure, Aggressive beh... |
ORPHA:275864 |
Phosphoserine Aminotransferase Deficiency |
|
Hypertonia, Apnea, Myoclonus |
OMIM:610992 |
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4 |
|
Generalized myoclonic seizure, Bilateral tonic-clonic seizure |
OMIM:611364 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Splenomegaly, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy |
OMIM:619175 |
Mitochondrial Complex I Deficiency, Nuclear Type 12 |
|
Bilateral tonic-clonic seizure, Ataxia, Unsteady gait, Choreoathetosis, Seizure, Dementia, Myoclo... |
OMIM:301020 |
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Failure to thrive, Tachypnea, Decreased body weight |
OMIM:620085 |
Prader-Willi syndrome (Type 1) |
|
Truncal obesity |
DECIPHER:14 |
Prader-Willi Syndrome (Type 2) |
|
Truncal obesity |
DECIPHER:53 |
Atrial Standstill 2 |
|
Atrial cardiomyopathy, Absent P wave, Atrial standstill, Dyspnea, Cardiomyopathy, Bradycardia, Pa... |
OMIM:615745 |
Attrv122I Amyloidosis |
|
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Abnormal enteric nervous sys... |
ORPHA:85451 |
N-Acetylaspartate Deficiency |
|
Broad-based gait, Short stature, Unsteady gait, Truncal ataxia, Decreased body weight, Abnormal r... |
OMIM:614063 |
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination |
|
Infantile spasms, Tonic seizure, Focal-onset seizure, Seizure, Irritability, Scoliosis, Difficult... |
OMIM:617393 |
Andersen-Tawil Syndrome |
|
Prolonged QT interval, Bidirectional ventricular ectopy, Polymorphic ventricular tachycardia, Dil... |
ORPHA:37553 |
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions |
|
Generalized myoclonic seizure, Bilateral tonic-clonic seizure with focal onset, Myoclonic seizure... |
OMIM:611726 |
Basal Ganglia Calcification, Idiopathic, 1 |
|
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Depression, Bradykinesia, Seizur... |
OMIM:213600 |
Autosomal Dominant Spastic Ataxia Type 1 |
|
Spastic ataxia, Lower limb spasticity, Dystonia, Tremor, Babinski sign, Impaired vibration sensat... |
ORPHA:251282 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Fever, Tachycardia, Apnea, Dyspnea, Hyperventilation |
OMIM:229700 |
Immunodeficiency 83, Susceptibility To Viral Infections |
|
Mental deterioration, EEG abnormality, Confusion, Lethargy |
OMIM:613002 |
Congenital Myopathy 24 |
|
Waddling gait, Cardiomyopathy, Facial palsy, First degree atrioventricular block |
OMIM:617336 |
Epilepsy, Progressive Myoclonic, 1B |
|
Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus |
OMIM:612437 |
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Bilateral tonic-clonic seizure, Tonic seizure, Cryptorchidism, Clonic seizure, Focal-onset seizur... |
OMIM:618917 |
Seizures, Benign Familial Infantile, 3 |
|
Focal impaired awareness seizure, Apnea, Bilateral tonic-clonic seizure with focal onset, Bilater... |
OMIM:607745 |
Episodic Ataxia, Type 9 |
|
Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Seizure, Status epilepticus, Episo... |
OMIM:618924 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Broad-based gait, Bilateral tonic-clonic seizure, Hand tremor, Gait ataxia, Dysphagia, Recurrent ... |
OMIM:617862 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Congestive heart failure, Apnea, Bradycardia |
OMIM:619048 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia2 |
|
Anterior open-bite malocclusion, Hypomature enamel, Amelogenesis imperfecta, Yellow-brown discolo... |
OMIM:612529 |
Amelogenesis Imperfecta, Type Iiic |
|
Anterior open-bite malocclusion, Hypocalcification of dental enamel, Yellow-brown discoloration o... |
OMIM:618386 |
Short Qt Syndrome 3 |
|
Shortened QT interval, Tachycardia, Palpitations |
OMIM:609622 |
Hereditary Late-Onset Parkinson Disease |
|
Resting tremor, Dystonia, Akinesia, Impulsivity, Depression, Bradykinesia, Weight loss, Dementia,... |
ORPHA:411602 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Impaired vibratory sensation, Ataxia, Impaired distal proprioception, Distal sensory impairment, ... |
OMIM:607250 |
Pyruvate Dehydrogenase Deficiency |
|
Cerebral palsy, Ataxia, Tremor, Dyspnea, Tachypnea, Abnormal pyramidal sign, Choreoathetosis, Gai... |
ORPHA:765 |
Developmental And Epileptic Encephalopathy 56 |
|
Broad-based gait, Ataxia, Poor coordination, Generalized non-motor (absence) seizure, Focal motor... |
OMIM:617665 |
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Tremor, Kinetic tremor, Gait disturbance |
OMIM:611808 |
Foxg1 Syndrome |
|
Dystonia, Bilateral tonic-clonic seizure, Infantile spasms, Kyphoscoliosis, Focal-onset seizure, ... |
ORPHA:561854 |
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, Arrhythmia |
ORPHA:542306 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Hyperactivity, Bilateral tonic-clonic seizure, Tonic seizure, Inability to walk, Dysmetria, Gait ... |
OMIM:618090 |
Atrial Septal Defect, Ostium Secundum Type |
|
Bundle branch block, First degree atrioventricular block, Abnormal left ventricular function, Sup... |
ORPHA:99103 |
Myoclonic-Atonic Epilepsy |
|
Ataxia, Tremor, Generalized myoclonic-atonic seizure, Generalized non-motor (absence) seizure, My... |
OMIM:616421 |
Spinocerebellar Ataxia Type 38 |
|
Tremor, Somatic sensory dysfunction, Gait ataxia |
ORPHA:423296 |
Brugada Syndrome 8 |
|
Right bundle branch block, ST segment elevation, Ventricular tachycardia |
OMIM:613123 |
Autosomal Spastic Paraplegia Type 72 |
|
Rigidity, Postural tremor, Spastic gait, Impaired vibration sensation at ankles |
ORPHA:401849 |
Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Tremor, Chorea, Unsteady gait, Hyperkinetic movements, Hemiballismus, Frequent falls |
OMIM:616921 |
Complete Atrioventricular Septal Defect |
|
Abnormal EKG, Tachycardia, Left-to-right shunt, Intercostal retractions, Crackles, Right ventricu... |
ORPHA:1329 |
Cardiomyopathy, Dilated, 2H |
|
Tachypnea, Cardiorespiratory arrest |
OMIM:620203 |
Sporadic Adult-Onset Ataxia Of Unknown Etiology |
|
Resting tremor, Ataxia, Akinesia, Gait ataxia, Dysdiadochokinesis, Dementia, Shuffling gait, Dysp... |
ORPHA:247234 |
Episodic Kinesigenic Dyskinesia 3 |
|
Choreoathetosis, Torticollis, Involuntary movements, Dystonia |
OMIM:620245 |
Mitochondrial Complex I Deficiency, Nuclear Type 10 |
|
Broad-based gait, Apnea, Central hypoventilation, Ataxia, Dysmetria, Seizure, Respiratory failure... |
OMIM:618233 |
Episodic Ataxia, Type 5 |
|
Bilateral tonic-clonic seizure, Ataxia, Typical absence seizure, Myoclonus, Atypical absence seiz... |
OMIM:613855 |
Atherosclerosis Susceptibility |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:108725 |
Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... |
OMIM:260300 |
Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Parkinsonism, Tremor, Rigidity, Bradykinesia, Gait disturbance, Dystonia |
OMIM:600116 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a... |
ORPHA:300751 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Waddling gait, Bilateral tonic-clonic seizure with generalized onset, Generalized myoclonic seizu... |
ORPHA:2590 |
Smith-Magenis syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation |
DECIPHER:8 |
Seizures, Benign Familial Neonatal, 2 |
|
Focal clonic seizure, Bilateral tonic-clonic seizure |
OMIM:121201 |
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations |
|
Apnea, Central hypoventilation, Rigidity, Respiratory insufficiency, Myoclonus, Failure to thrive |
OMIM:300673 |
Developmental And Epileptic Encephalopathy 58 |
|
Inability to walk, Spastic diplegia, Seizure, Status epilepticus, Abnormal repetitive mannerisms |
OMIM:617830 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Prolonged QT interval, Tachycardia, Pneumonia, Episodic tachypnea, Hypother... |
ORPHA:26793 |
Multifocal Atrial Tachycardia |
|
Atrial flutter, Tachycardia, Atrial fibrillation, Dyspnea, Effort-induced polymorphic ventricular... |
ORPHA:3282 |
Erythrocyte Lactate Transporter Defect |
|
Exercise-induced muscle fatigue |
OMIM:245340 |
Progressive Myoclonic Epilepsy Type 3 |
|
Progressive truncal ataxia, Bilateral tonic-clonic seizure, Progressive psychomotor deterioration... |
ORPHA:263516 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili... |
OMIM:619868 |
Postencephalitic Parkinsonism |
|
Resting tremor, Oculogyric crisis, Akinesia, Diminished movement, Depression, Bradykinesia, Seizu... |
ORPHA:97349 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Short attention span, Epileptic spasm, Apnea, Bilateral tonic-clonic seizure, Impulsivity, Aggres... |
OMIM:619580 |
Dimethylglycine Dehydrogenase Deficiency |
|
Increased muscle fatiguability |
ORPHA:243343 |
Sinus Node Disease And Myopia |
|
Sick sinus syndrome, Abnormal electrophysiology of sinoatrial node origin |
OMIM:182190 |
Malocclusion Due To Protuberant Upper Front Teeth |
|
Dental malocclusion |
OMIM:154300 |
Urocanase Deficiency |
|
Ataxia, Aggressive behavior, Dysmetria, Gait ataxia, Truncal ataxia, Action tremor |
OMIM:276880 |
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent |
|
Apnea, Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Respiratory insufficiency, ... |
OMIM:617290 |
Holocarboxylase Synthetase Deficiency |
|
Respiratory distress, Ataxia, Tachypnea, Weight loss, Lethargy |
ORPHA:79242 |
Mitochondrial Complex I Deficiency, Nuclear Type 4 |
|
Apnea, Ataxia, Myoclonic seizure, Seizure, Myoclonus, Lethargy |
OMIM:618225 |
Familial Atrial Fibrillation |
|
Palpitations, Atrial fibrillation, Syncope, Myocardial infarction |
ORPHA:334 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Dystonia, Ataxia, Elevated circulating creatine kinase concentration, Tremor, Chorea, Oculomotor ... |
OMIM:208920 |
Ataxia-Oculomotor Apraxia 4 |
|
Impaired vibratory sensation, Ataxia, Elevated circulating alpha-fetoprotein concentration, Abnor... |
OMIM:616267 |
Brugada Syndrome 5 |
|
ST segment elevation, Bundle branch block, Ventricular fibrillation |
OMIM:612838 |
Seizures, Benign Familial Infantile, 2 |
|
Bilateral tonic-clonic seizure, Focal impaired awareness seizure |
OMIM:605751 |
Epilepsy, Progressive Myoclonic, 9 |
|
Bilateral tonic-clonic seizure, Gait ataxia, Status epilepticus, Myoclonus, Generalized myoclonic... |
OMIM:616540 |
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Apnea, Bradycardia, Hypothermia |
OMIM:614498 |
Hemifacial Hyperplasia |
|
Hypoplasia of the maxilla, Dental malocclusion |
OMIM:133900 |
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay |
|
Central apnea, Spastic paraplegia, Dysmetria, Gait ataxia, Spastic gait |
OMIM:615031 |
Dystonia 12 |
|
Torticollis, Parkinsonism, Tremor, Unsteady gait, Dysphagia, Bradykinesia, Dystonia |
OMIM:128235 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 5 |
|
Increased muscle fatiguability, Ataxia, Gait ataxia |
OMIM:613077 |
Cardiomyopathy, Dilated, 1J |
|
Abnormal left ventricular function, Congestive heart failure, Dilated cardiomyopathy, Sudden card... |
OMIM:605362 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B |
|
Irritability, Seizure, Apnea |
OMIM:615228 |
Developmental And Epileptic Encephalopathy 97 |
|
Epileptic spasm, Tremor, Inability to walk, Seizure, Stereotypical hand wringing |
OMIM:619561 |
Epilepsy, Familial Temporal Lobe, 3 |
|
Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset, Deja vu aura |
OMIM:611630 |
Cardiomyopathy, Dilated, 1Z |
|
Congestive heart failure, Dilated cardiomyopathy, Sudden cardiac death |
OMIM:611879 |
Idiopathic Congenital Hypothyroidism |
|
Lethargy, Bradycardia, Hypothermia |
ORPHA:95717 |
Hyperprolinemia, Type I |
|
Hyperactivity, Ataxia, Aggressive behavior, Seizure, Status epilepticus, Abnormal repetitive mann... |
OMIM:239500 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Increased serum pyruvate, Dystonia, Small for gestational age, Tremor, Apneic episodes precipitat... |
OMIM:312170 |
Generalized Epilepsy With Febrile Seizures Plus, Type 2 |
|
Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Focal-onset seizure, Generalized non-mo... |
OMIM:604403 |
Progressive Myoclonic Epilepsy Type 1 |
|
Ataxia, Limb ataxia, Myoclonus, Morning myoclonic jerks, Intention tremor |
ORPHA:308 |
Cardiomyopathy, Familial Hypertrophic, 11 |
|
Atrial flutter, Angina pectoris, Cardiac arrest, Dyspnea, Congestive heart failure, Ventricular t... |
OMIM:612098 |
Pulmonary Blastoma |
|
Weight loss, Dyspnea, Recurrent pneumonia, Cough |
ORPHA:64741 |
Spinocerebellar Ataxia Type 20 |
|
Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Abnormal pyramidal sign, Ga... |
ORPHA:101110 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Respiratory distress, Ataxia, Tachypnea, Respiratory insufficiency, Respiratory failure, Abnormal... |
OMIM:614299 |
Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
Brunner Syndrome |
|
Self-injurious behavior, Kinetic tremor, Impulsivity, Aggressive behavior |
OMIM:300615 |
Familial Focal Epilepsy With Variable Foci |
|
Bilateral tonic-clonic seizure, Infantile spasms, Simple febrile seizure, Focal-onset seizure, Fo... |
ORPHA:98820 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Impaired vibratory sensation, Hepatomegaly, Acute hepatitis, Clonus, Poor coordination, Abnormal ... |
OMIM:238970 |
Developmental And Epileptic Encephalopathy 98 |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Clonic seizure, ... |
OMIM:619605 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Respiratory distress, Neonatal respiratory distress, Broad-based gait, Ataxia, Crackles, Asthma, ... |
OMIM:610978 |
Ataxia With Vitamin E Deficiency |
|
Hypertriglyceridemia, Ataxia, Impaired proprioception, Dysmetria, Clumsiness, Increased LDL chole... |
OMIM:277460 |
Dystonia, Dopa-Responsive |
|
Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Babinski sign, Impa... |
OMIM:128230 |
Hirschsprung Disease-Ganglioneuroblastoma Syndrome |
|
Prolonged QT interval, Arrhythmia |
ORPHA:2151 |
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Postural tremor, Tremor, Rigidity, Babinski sign, Depression, Bradykinesia, Gait disturbance, Myo... |
ORPHA:314632 |
Amelogenesis Imperfecta, Type Ie |
|
Anterior open-bite malocclusion, Enamel hypoplasia, Abnormal dentin morphology, Amelogenesis impe... |
OMIM:301200 |
Cardiomyopathy, Dilated, 2G |
|
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomy... |
OMIM:619897 |
Morbid Obesity And Spermatogenic Failure |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Obesity, Increased LDL cholesterol... |
OMIM:615703 |
Hyperphenylalaninemia, Bh4-Deficient, C |
|
Dystonia, Progressive neurologic deterioration, Tremor, Choreoathetosis, Seizure, Irritability, H... |
OMIM:261630 |
Leukodystrophy, Hypomyelinating, 4 |
|
Apnea, Head titubation, Babinski sign, Spastic paraplegia, Choreoathetosis, Progressive spasticity |
OMIM:612233 |
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss |
|
Tremor, Mildly elevated creatine kinase, Distal sensory impairment |
OMIM:614369 |
Mitochondrial Complex I Deficiency, Nuclear Type 6 |
|
Ataxia, Apnea, Abnormal pyramidal sign, Respiratory insufficiency, Lethargy, Failure to thrive |
OMIM:618228 |
Seizures, Benign Familial Infantile, 5 |
|
Bilateral tonic-clonic seizure, Focal impaired awareness seizure |
OMIM:617080 |
Glycogen Storage Disease Xv |
|
ST segment elevation, Right bundle branch block, Paroxysmal ventricular tachycardia, T-wave inver... |
OMIM:613507 |
Bardet-Biedl Syndrome 11 |
|
Obesity |
OMIM:615988 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Ataxia, Spastic tetraparesis, Tachypnea, Babinski sign, Respiratory failure, Gait disturbance, Lo... |
OMIM:615838 |
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant |
|
Epileptic spasm, Dystonia, Oculogyric crisis, Inability to walk, Chorea, Bruxism, Myoclonic seizu... |
OMIM:614254 |
Regional Odontodysplasia |
|
Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu... |
ORPHA:83450 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypercholesterolemia, Obesity |
OMIM:608320 |
Central Neurocytoma |
|
Pain insensitivity, Abnormal lateral ventricle morphology, Ataxia, Depression, Paresthesia, Lethargy |
ORPHA:73256 |
Parkinson Disease 17 |
|
Bradykinesia, Resting tremor, Tremor, Akinesia |
OMIM:614203 |
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects |
|
Failure to thrive, Ataxia, Attention deficit hyperactivity disorder, Hypokinesia |
OMIM:620007 |
Sitosterolemia 2 |
|
Elevated circulating sitosterol concentration, Hypercholesterolemia |
OMIM:618666 |
Severe Neonatal-Onset Encephalopathy With Microcephaly |
|
Spasticity, Apnea, Involuntary movements, Respiratory insufficiency |
ORPHA:209370 |
Monosodium Glutamate Sensitivity |
|
Palpitations |
OMIM:231630 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Somatic sensory dysfunction, Ataxia, Elevated circulating creatine kinase concentration, Elevated... |
ORPHA:64753 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:144300 |
Episodic Pain Syndrome, Familial, 3 |
|
Abnormal autonomic nervous system physiology |
OMIM:615552 |
Primary Dystonia, Dyt4 Type |
|
Eunuchoid habitus, Respiratory distress, Torticollis, Generalized dystonia, Involuntary movements... |
ORPHA:98805 |
Developmental And Epileptic Encephalopathy 11 |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Status epilepticus |
OMIM:613721 |
Epilepsy, Familial Focal, With Variable Foci 4 |
|
Bilateral tonic-clonic seizure, Simple febrile seizure, Focal-onset seizure, Clonic seizure, Foca... |
OMIM:617935 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... |
ORPHA:79506 |
Thyroid Hormone Metabolism, Abnormal, 2 |
|
Hypercholesterolemia |
OMIM:619855 |
Autosomal Recessive Dopa-Responsive Dystonia |
|
Generalized dystonia, Ataxia, Parkinsonism, Postural tremor, Oculogyric crisis, Rigidity, Babinsk... |
ORPHA:101150 |
Wild Type Attr Amyloidosis |
|
Abnormal EKG, Myocardial infarction, Congestive heart failure, Bradycardia, Arrhythmia, Abnormal ... |
ORPHA:330001 |
Hereditary Central Diabetes Insipidus |
|
Lethargy, Polydipsia, Irritability, Weight loss |
ORPHA:30925 |
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome |
|
Obesity |
ORPHA:1078 |
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation |
|
Central apnea, Seizure, Dysmetria, Gait ataxia |
ORPHA:320385 |
Cardiomyopathy, Dilated, 1Ii |
|
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Ventricular tachycardia,... |
OMIM:615184 |
Abdominal Obesity-Metabolic Syndrome 1 |
|
Abdominal obesity |
OMIM:605552 |
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2 |
|
Abdominal obesity |
OMIM:605572 |
Spermatogenic Failure 57 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... |
OMIM:619528 |
Spinocerebellar Ataxia, Autosomal Recessive 12 |
|
Bilateral tonic-clonic seizure, Limb ataxia, Ataxia, Gait ataxia |
OMIM:614322 |
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent |
|
Neonatal respiratory distress, Bilateral tonic-clonic seizure, Clonic seizure, Status epilepticus... |
OMIM:266100 |
Generalized Epilepsy With Febrile Seizures Plus, Type 9 |
|
Bilateral tonic-clonic seizure, Tonic seizure, Generalized non-motor (absence) seizure, Focal imp... |
OMIM:616172 |
Hypertriglyceridemia, Transient Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic fibrosis... |
OMIM:614480 |
Spermatogenic Failure 50 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size |
OMIM:619145 |
Yoon-Bellen Neurodevelopmental Syndrome |
|
Ataxia, Bilateral tonic-clonic seizure, Infantile spasms, Generalized myoclonic-atonic seizure, I... |
OMIM:619701 |
Chudley-Mccullough Syndrome |
|
Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Cerebellar hypoplasia, Cereb... |
OMIM:604213 |
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Nail-biting, Hyperactivity, Generalized-onset seizure, Bilateral tonic-clonic seizure, Aggressive... |
OMIM:619827 |
Multiple System Atrophy |
|
Raynaud phenomenon, Gait ataxia, Bradykinesia, Progressive cerebellar ataxia, Orthostatic syncope... |
ORPHA:102 |
Developmental And Epileptic Encephalopathy 52 |
|
Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Limb ataxia, Seizure, Atypical absence ... |
OMIM:617350 |
Spermatogenic Failure 59 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619645 |
Spermatogenic Failure 60 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619646 |
Spermatogenic Failure 74 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619937 |
Spermatogenic Failure 73 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619878 |
Methionine Malabsorption Syndrome |
|
Tachypnea |
OMIM:250900 |
Trimethylaminuria |
|
Hypertension, Tachycardia |
OMIM:602079 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Ataxia, Poor motor coordination, Tremor, Abnormal pyramidal s... |
ORPHA:363400 |
Developmental And Epileptic Encephalopathy 13 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset,... |
OMIM:614558 |
Paroxysmal Exertion-Induced Dyskinesia |
|
Lower limb spasticity, Ataxia, Involuntary movements, Aggressive behavior, Chorea, Torsion dyston... |
ORPHA:98811 |
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome |
|
Gait disturbance, Obesity |
ORPHA:436141 |
Spinocerebellar Ataxia Type 23 |
|
Babinski sign, Impaired distal vibration sensation, Impaired proprioception, Limb ataxia, Dysmetr... |
ORPHA:101108 |
Myoclonus-Cerebellar Ataxia-Deafness Syndrome |
|
Progressive cerebellar ataxia, Progressive gait ataxia, Myoclonus, Intention tremor |
ORPHA:2589 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Broad-based gait, Hyperactivity, Spastic tetraparesis, Aggressive behavior, Tremor, Seizure, Abno... |
OMIM:619470 |
Neutral Lipid Storage Disease With Myopathy |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine ... |
OMIM:610717 |
High Altitude Pulmonary Edema |
|
Orthopnea, Crackles, Dyspnea, Tachypnea, Hypoxemia, Cough |
ORPHA:330012 |
Developmental And Epileptic Encephalopathy 34 |
|
Bilateral tonic-clonic seizure with focal onset, Focal hemiclonic seizure, Focal-onset seizure, I... |
OMIM:616645 |
Nathalie Syndrome |
|
Abnormal EKG |
OMIM:255990 |
Aminoacylase 1 Deficiency |
|
Bradycardia |
OMIM:609924 |
Spinocerebellar Ataxia Type 28 |
|
Dystonia, Kinetic tremor, Parkinsonism, Rigidity, Babinski sign, Limb ataxia, Depression, Gait at... |
ORPHA:101109 |
Developmental And Epileptic Encephalopathy 27 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Infantile spasms, Chorea, Myoclonic seizure, Sei... |
OMIM:616139 |
Spinal Muscular Atrophy, Jokela Type |
|
Elevated circulating creatine kinase concentration, Tremor, Distal sensory impairment, Fasciculat... |
OMIM:615048 |
Bardet-Biedl Syndrome 14 |
|
Obesity |
OMIM:615991 |
Lissencephaly 10 |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo... |
OMIM:618873 |
Lyme Disease |
|
Fever, Arrhythmia, Atrioventricular block |
ORPHA:91546 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 7 |
|
Bilateral tonic-clonic seizure, Myoclonus |
OMIM:604827 |
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Tremor, Chorea, Unsteady gait, Hemiballismus, Frequent falls |
ORPHA:494526 |
Ebstein Anomaly |
|
Atrial fibrillation, Sudden cardiac death, Atrial standstill, Ventricular preexcitation, Right bu... |
OMIM:224700 |
Epilepsy, Myoclonic Juvenile |
|
Morning myoclonic jerks, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure,... |
OMIM:254770 |
Myotonic Dystrophy 2 |
|
Right bundle branch block, Tachycardia, Palpitations, Premature ventricular contraction |
OMIM:602668 |
Dystonia 23 |
|
Axial dystonia, Torticollis, Writer's cramp, Gait disturbance, Myoclonus, Head tremor, Limb dystonia |
OMIM:614860 |
Developmental And Epileptic Encephalopathy 94 |
|
Bilateral tonic-clonic seizure, Tonic seizure, Visually-induced seizure, Generalized non-motor (a... |
OMIM:615369 |
Tetanus |
|
Fever, Tachycardia, Hypertension, Abnormal autonomic nervous system physiology, Bradycardia, Auto... |
ORPHA:3299 |
Huntington Disease-Like 1 |
|
Restlessness, Chorea, Dysmetria, Gait ataxia, Bradykinesia, EEG abnormality, Seizure, Dementia, G... |
ORPHA:157941 |
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements |
|
Inability to walk, Focal-onset seizure, Chorea, Self-injurious behavior, Convulsive status epilep... |
OMIM:618760 |
Alternating Hemiplegia Of Childhood 1 |
|
Choreoathetosis, Bilateral tonic-clonic seizure |
OMIM:104290 |
Myopathy And Diabetes Mellitus |
|
Impaired vibratory sensation, Respiratory distress, Inability to walk, Babinski sign, Progressive... |
ORPHA:2596 |
Mcdonough Syndrome |
|
Mandibular prognathia, Short stature, Cachexia, Micrognathia, Open bite, Dental malocclusion, Sho... |
ORPHA:2471 |
Kearns-Sayre Syndrome |
|
Ataxia, Third degree atrioventricular block |
ORPHA:480 |
Danon Disease |
|
Wolff-Parkinson-White syndrome, Congestive heart failure, Dilated cardiomyopathy, Ventricular tac... |
OMIM:300257 |
Spastic Paraplegia 79A, Autosomal Dominant, With Ataxia |
|
Impaired vibratory sensation, Lower limb spasticity, Sensory ataxia, Gait ataxia, Dysphagia, Inte... |
OMIM:620221 |
Spastic Paraplegia 78, Autosomal Recessive |
|
Impaired vibratory sensation, Resting tremor, Ataxia, Parkinsonism, Aggressive behavior, Babinski... |
OMIM:617225 |
Early Myoclonic Encephalopathy |
|
EEG abnormality, Dysphagia, Lethargy, Hypsarrhythmia |
ORPHA:1935 |
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Respiratory distress, Ataxia, Tremor |
OMIM:619099 |
Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract |
|
Irritability, Apneic episodes in infancy, Stereotypical hand wringing, Seizure |
ORPHA:500545 |
Developmental And Epileptic Encephalopathy 12 |
|
Focal-onset seizure, Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure |
OMIM:613722 |
Intellectual Developmental Disorder, X-Linked 111 |
|
Hyperactivity, Cerebral palsy, Kyphoscoliosis, Aggressive behavior, Unsteady gait, Phonic tics, S... |
OMIM:301107 |
Rett Syndrome |
|
Apnea, Intermittent hyperventilation, Gait apraxia, Truncal ataxia, Gait ataxia, Seizure, Bruxism... |
OMIM:312750 |
Bardet-Biedl Syndrome 13 |
|
Obesity |
OMIM:615990 |
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Failure to thrive in infancy, Aggressive behavior, Obesity, Self-injurious behavior, Compulsive b... |
OMIM:613670 |
Heart-Hand Syndrome, Spanish Type |
|
Sick sinus syndrome |
OMIM:140450 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Choreoathetosis, Dystonia, Oculomotor apraxia... |
OMIM:612716 |
Epilepsy, Familial Adult Myoclonic, 3 |
|
Focal-onset seizure, Bilateral tonic-clonic seizure, Myoclonus, Difficulty walking |
OMIM:613608 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Respiratory distress, Bradycardia, Hypothermia |
ORPHA:226313 |
Epilepsy, Familial Adult Myoclonic, 5 |
|
Myoclonus, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Focal sensory seizur... |
OMIM:615400 |
Coenzyme Q10 Deficiency, Primary, 9 |
|
Short attention span, Lower limb spasticity, Bilateral tonic-clonic seizure with generalized onse... |
OMIM:619028 |
Pandas |
|
Anorexia, Impulsivity, Abnormal fear-induced behavior, Chorea, Depression, Irritability, Tics, At... |
ORPHA:66624 |
Malignant Migrating Focal Seizures Of Infancy |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset,... |
ORPHA:293181 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Sinus bradycardia, Second degree atrioventricular block, Syncope, Palpitations, Difficulty walkin... |
OMIM:616812 |
Gaba-Transaminase Deficiency |
|
EEG with burst suppression, Agenesis of corpus callosum, Lethargy |
OMIM:613163 |
Hemangioma-Thrombocytopenia Syndrome |
|
Ventricular arrhythmia |
OMIM:141000 |
Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Apnea, Progressive neurologic deterioration, Bronchiectasis, Respiratory insufficiency, Irritabil... |
OMIM:618253 |
Cirrhotic Cardiomyopathy |
|
Prolonged QT interval, Hepatomegaly, Elevated jugular venous pressure, Left atrial enlargement, C... |
ORPHA:57777 |
Dimethylglycine Dehydrogenase Deficiency |
|
Increased muscle fatiguability |
OMIM:605850 |
Spinal Muscular Atrophy, Late-Onset, Finkel Type |
|
Tremor, Loss of ambulation, Fasciculations |
OMIM:182980 |
Susac Syndrome |
|
Somatic sensory dysfunction, Confusion, Gait ataxia, Apathy, Abnormal emotion, Cognitive impairme... |
ORPHA:838 |
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Inability to walk, Myoclonic seiz... |
OMIM:618497 |
Intellectual Developmental Disorder, Autosomal Recessive 48 |
|
Waddling gait, Aggressive behavior, Tremor, Inability to walk, Inappropriate laughter, Self-mutil... |
OMIM:616269 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Respiratory distress, Cachexia, Progressive neurologic deterioration, Gait ataxia, Weight loss, S... |
OMIM:612075 |
Adenocarcinoma Of The Esophagus |
|
Obesity, Cough |
ORPHA:99976 |
Febrile Seizures, Familial, 5 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... |
OMIM:609255 |
Febrile Seizures, Familial, 6 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... |
OMIM:609253 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K |
|
Decreased nerve conduction velocity, Arrhythmia, Gait disturbance |
ORPHA:99944 |
Febrile Seizures, Familial, 4 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... |
OMIM:604352 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 17 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... |
OMIM:602477 |
Febrile Seizures, Familial, 1 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... |
OMIM:121210 |
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Resting tremor, Ataxia, Parkinsonism, Chorea, Cogwheel rigidity, Bradykinesia, Myoclonus, Attenti... |
OMIM:619725 |
Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Acute inf... |
ORPHA:36238 |
Baker-Gordon Syndrome |
|
Ataxia, Involuntary movements, Inability to walk, Choreoathetosis, Self-injurious behavior, Hyper... |
OMIM:618218 |
Brugada Syndrome 4 |
|
Shortened QT interval, Syncope, Atrial fibrillation |
OMIM:611876 |
Spinocerebellar Ataxia 38 |
|
Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus |
OMIM:615957 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Cardiac shunt, Cardiomegaly, Tachypnea, Dextrotransposition of the great arteries, Abnormality of... |
ORPHA:860 |
Tremor, Hereditary Essential, 2 |
|
Kinetic tremor, Upper limb postural tremor |
OMIM:602134 |
Auriculocondylar Syndrome 2A |
|
Dental crowding, Micrognathia, Narrow mouth, Temporomandibular joint ankylosis, Microglossia, Den... |
OMIM:614669 |
Coronary Arterial Fistula |
|
Continuous heart murmur, Bicuspid aortic valve, Cardiomegaly, Tachypnea, Right ventricular dilata... |
ORPHA:2041 |
Gerstmann-Straussler Disease |
|
Parkinsonism, Aggressive behavior, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Depr... |
OMIM:137440 |
Mitochondrial Complex I Deficiency, Nuclear Type 5 |
|
Apnea, Ataxia, Respiratory insufficiency, Irritability, Seizure, Dysphagia, Lethargy |
OMIM:618226 |
Parkinson Disease 22, Autosomal Dominant |
|
Restless legs, Resting tremor, Rigidity, Depression, Bradykinesia, Dementia, Gait disturbance, Pa... |
OMIM:616710 |
Developmental And Epileptic Encephalopathy 30 |
|
Generalized myoclonic seizure, Seizure, Abnormal repetitive mannerisms, Bilateral tonic-clonic se... |
OMIM:616341 |
Spinocerebellar Ataxia 12 |
|
Axial dystonia, Parkinsonism, Dysmetria, Depression, Progressive cerebellar ataxia, Dysdiadochoki... |
OMIM:604326 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Bradycardia |
OMIM:618815 |
Spinocerebellar Ataxia 23 |
|
Impaired distal proprioception, Tremor, Babinski sign, Impaired vibration sensation in the lower ... |
OMIM:610245 |
Joubert Syndrome 30 |
|
Tachypnea, Apnea |
OMIM:617622 |
Rapid-Onset Dystonia-Parkinsonism |
|
Resting tremor, Torticollis, Parkinsonism, Dysphagia, Gait ataxia, Bradykinesia, Seizure, Depress... |
ORPHA:71517 |
Glycogen Storage Disease 0, Muscle |
|
Left ventricular hypertrophy, Cardiomyopathy, Bilateral tonic-clonic seizure, Left atrial enlarge... |
OMIM:611556 |
Spastic Paraparesis And Deafness |
|
Tremor, Spastic paraparesis |
OMIM:312910 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Increased LDL c... |
OMIM:616829 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 12 |
|
Bilateral tonic-clonic seizure |
OMIM:614847 |
Seizures, Benign Familial Neonatal, 3 |
|
Bilateral tonic-clonic seizure |
OMIM:608217 |
Intellectual Developmental Disorder, X-Linked 1 |
|
Seizure, Bilateral tonic-clonic seizure, Atonic seizure, Aggressive behavior |
OMIM:309530 |
Multiple System Atrophy, Parkinsonian Type |
|
Raynaud phenomenon, Gait ataxia, Bradykinesia, Progressive cerebellar ataxia, Orthostatic syncope... |
ORPHA:98933 |
Developmental And Epileptic Encephalopathy 54 |
|
Bilateral tonic-clonic seizure, Tonic seizure, Seizure, Myoclonus, Atypical absence seizure, Aton... |
OMIM:617391 |
Hyperphenylalaninemia, Bh4-Deficient, B |
|
Dystonia, Tremor, Rigidity, Choreoathetosis, Hyperkinetic movements, Hyperphenylalaninemia, Letha... |
OMIM:233910 |
Spermatogenic Failure 32 |
|
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype |
OMIM:618115 |
Spermatogenic Failure 71 |
|
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype |
OMIM:619831 |
Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Tremor, Frequent falls, Myoclonus, Dystonia |
OMIM:619647 |
Dihydrolipoamide Dehydrogenase Deficiency |
|
Increased serum pyruvate, Hepatomegaly, Elevated hepatic transaminase, Ataxia, Decreased liver fu... |
OMIM:246900 |
Developmental And Epileptic Encephalopathy 37 |
|
Multifocal seizures, Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Chorea, Choreoathe... |
OMIM:616981 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Respiratory distress, Hepatomegaly, Hemiplegia/hemiparesis, Chorea, Hyperammonemia, Choreoathetos... |
ORPHA:289916 |
Tropical Endomyocardial Fibrosis |
|
Prolonged QRS complex, Restrictive cardiomyopathy, Atrioventricular block, Left bundle branch blo... |
ORPHA:75565 |
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia |
|
Tremor, Agitation, Myoclonus, Compulsive behaviors, Dystonia |
OMIM:619651 |
Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity, Abnormal repetitive mannerisms |
OMIM:300271 |
Developmental And Epileptic Encephalopathy 42 |
|
Bilateral tonic-clonic seizure, Ataxia, Tonic seizure, Focal tonic seizure, Myoclonic seizure, At... |
OMIM:617106 |
Symmetrical Thalamic Calcifications |
|
Ataxia, Respiratory insufficiency, Cognitive impairment, Arrhythmia, Failure to thrive |
ORPHA:1314 |
Joubert Syndrome 9 |
|
Oculomotor apraxia, Apnea, Episodic tachypnea |
OMIM:612285 |
Centralopathic Epilepsy |
|
Focal-onset seizure, Bilateral tonic-clonic seizure with focal onset, Nocturnal seizures |
OMIM:117100 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Sudden episodic apnea, Hypothermia, Ventricular tachycardia, Respiratory insufficiency, Cardiomyo... |
ORPHA:159 |
Parkinsonism-Dystonia 1, Infantile-Onset |
|
Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog... |
OMIM:613135 |
Intellectual Developmental Disorder, Autosomal Recessive 34, With Variant Lissencephaly |
|
Seizure, Bilateral tonic-clonic seizure |
OMIM:614499 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 14 |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Generalized myo... |
OMIM:616685 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Impulsivity, Aggressive behavior, Poor coordination, Stereotypical body rocking, A... |
OMIM:309548 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Central apnea, Resting tremor, Incoordination, Ataxia, Tremor, Paraparesis, Gait apraxia, Babinsk... |
OMIM:615157 |
Emphysema, Congenital Lobar |
|
Respiratory distress |
OMIM:130710 |
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills |
|
Apnea, Seizure, Agitation, Gait disturbance, Bruxism, Recurrent hand flapping, Hyperventilation |
OMIM:617903 |
Leukodystrophy, Hypomyelinating, 21 |
|
Ataxia, Hypogonadotropic hypogonadism, Cryptorchidism, Athetosis, Tetraparesis, Hypodontia, Dysto... |
OMIM:619310 |
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type) |
|
Lethargy, Difficulty walking, Distal sensory impairment |
OMIM:613710 |
Dystonia 28, Childhood-Onset |
|
Torticollis, Dystonia, Short stature, Tremor, Tip-toe gait, Gait disturbance, Myoclonus, Cognitiv... |
OMIM:617284 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Resting tremor, Apnea, Ataxia, Parkinsonism, Tremor, Babinski sign, Spastic paraplegia, Spastic t... |
OMIM:300055 |
Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Tremor, Unsteady gait, Babinski sign, Limb ataxia, Ankle clonus, Cognitive impairment, Truncal at... |
OMIM:615768 |
Autoimmune Hypoparathyroidism |
|
Abnormal left ventricular function, Dyspnea, Prolonged QT interval, Ventricular arrhythmia |
ORPHA:36913 |
Spinocerebellar Ataxia, X-Linked 1 |
|
Ataxia, Action tremor, Unsteady gait, Abnormality of extrapyramidal motor function, Dysphagia, In... |
OMIM:302500 |
Adenosine Monophosphate Deaminase Deficiency |
|
Exercise-induced muscle fatigue |
ORPHA:45 |
Hypercholesterolemia, Familial, 4 |
|
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration |
OMIM:603813 |
Multiple System Atrophy, Cerebellar Type |
|
Broad-based gait, Raynaud phenomenon, Limb ataxia, Gait ataxia, Bradykinesia, Progressive cerebel... |
ORPHA:227510 |
Spinocerebellar Ataxia 35 |
|
Torticollis, Incoordination, Ataxia, Babinski sign, Impaired proprioception, Dysmetria, Pseudobul... |
OMIM:613908 |
Kohlschutter-Tonz Syndrome |
|
Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Myoclonic seizure, Seizure, Dementia |
OMIM:226750 |
Generalized Epilepsy With Febrile Seizures Plus, Type 7 |
|
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Feb... |
OMIM:613863 |
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities |
|
Bilateral tonic-clonic seizure, Ataxia, Inability to walk, Unsteady gait, Seizure |
OMIM:620317 |
Fraxe Intellectual Disability |
|
Hyperactivity, Impulsivity, Aggressive behavior, Clumsiness, Stereotypical body rocking, Agitatio... |
ORPHA:100973 |
Developmental And Epileptic Encephalopathy 99 |
|
Central apnea, Epileptic spasm, Multifocal seizures, Bilateral tonic-clonic seizure, Tonic seizur... |
OMIM:619606 |
Cardiomyopathy, Familial Hypertrophic, 2 |
|
Atrial fibrillation, Angina pectoris, Dyspnea, Right bundle branch block, Reduced left ventricula... |
OMIM:115195 |
Myotonic Dystrophy 1 |
|
Respiratory distress, Atrial flutter, Atrial fibrillation, First degree atrioventricular block |
OMIM:160900 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Abnormal cardiac ventricular function, Paroxysmal atrial fibrillation, Tricuspid regurgitation, A... |
ORPHA:1677 |
Primary Dystonia, Dyt2 Type |
|
Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm... |
ORPHA:99657 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Neonatal respiratory distress, Apnea, Dyspnea, Tachypnea, Respiratory failure, Pulmonary arterial... |
OMIM:265120 |
Bundle Branch Block, Familial Isolated Complete Right |
|
Right bundle branch block |
OMIM:113950 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Nonspecific interstitial pneumonia, Spontaneous pneumothorax, Reduced force... |
OMIM:610913 |
Spinocerebellar Ataxia 17 |
|
Chorea, Dysmetria, Gait ataxia, Intention tremor, Ataxia, Confusion, Parkinsonism, Depression, Se... |
OMIM:607136 |
Primary Pulmonary Hypoplasia |
|
Neonatal respiratory distress, Apnea, Asthma, Tachypnea, Pneumothorax, Hypoxemia, Restrictive ven... |
ORPHA:2257 |
Hyperphenylalaninemia, Bh4-Deficient, D |
|
Tremor, Hypertonia |
OMIM:264070 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Persistent fetal circulation, Hypothermia, Bradycardia, Hypertrophic cardiomyopathy, Hyperventila... |
OMIM:618775 |
Mehmo Syndrome |
|
Small for gestational age, Decreased response to growth hormone stimulation test, Spastic tetrapa... |
OMIM:300148 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y |
|
Broad-based gait, Impaired pain sensation, Dyspnea, Impaired distal vibration sensation, Impaired... |
ORPHA:435387 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Respiratory distress, Hepatomegaly, Splenomegaly, Hyperammonemia, Choreoathetosis, Dystonia, Leth... |
ORPHA:79312 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Generalized dystonia, Cough, Inability to walk, Weight loss, Opisthotonus, Seizure, Tip-toe gait,... |
ORPHA:216866 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Seizure, Hyperactivity, Abnormal social behavior |
ORPHA:436151 |
Intellectual Developmental Disorder, X-Linked 97 |
|
Obesity |
OMIM:300803 |
Parkinson Disease 23, Autosomal Recessive Early-Onset |
|
Resting tremor, Akinesia, Dementia, Limb dystonia, Mental deterioration |
OMIM:616840 |
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Hyperactivity, Impulsivity, Impaired pain sensation, Aggressive behavior, Inability to walk, Kyph... |
ORPHA:500180 |
Hyperphenylalaninemia, Bh4-Deficient, A |
|
Dystonia, Ataxia, Small for gestational age, Progressive neurologic deterioration, Parkinsonism, ... |
OMIM:261640 |
Autosomal Dominant Striatal Neurodegeneration |
|
Rigidity, Bradykinesia, Dysdiadochokinesis, Gait disturbance, Dysphagia |
ORPHA:228169 |
Mitochondrial Complex I Deficiency, Nuclear Type 14 |
|
Hypertrophic cardiomyopathy, Apnea |
OMIM:618236 |
Succinic Semialdehyde Dehydrogenase Deficiency |
|
Hyperactivity, Bilateral tonic-clonic seizure, Ataxia, Aggressive behavior, Generalized non-motor... |
OMIM:271980 |
Intellectual Developmental Disorder, X-Linked 58 |
|
Dental malocclusion, Short philtrum |
OMIM:300210 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Lethargy, Hyperactivity, Failure to thrive |
OMIM:274270 |
Myofibrillar Myopathy 10 |
|
Prolonged QTc interval, Increased QRS voltage |
OMIM:619040 |
Gm2 Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Short stature, Postnatal growth retardation, Abnormal fear-induced ... |
ORPHA:309246 |
Fish-Eye Disease |
|
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... |
OMIM:136120 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypercholesterolemia, Hyperlipidemia, Failure to thrive, Hypoalbuminemia |
OMIM:615863 |
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome |
|
Chorea, Exercise-induced muscle fatigue, Difficulty walking, Truncal ataxia |
ORPHA:369847 |
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Bradycardia, Atrioventricular block |
OMIM:614407 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Restlessness, Aggressive behavior, Rigidity, Babinski sign, Inappropriate behavior, Gait disturba... |
OMIM:600795 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Hyperactivity, Tremor, Inability to walk, Seizure, Self-injurious behavior, Bruxism, Spasticity, ... |
OMIM:618718 |
Hereditary Geniospasm |
|
Abnormal social behavior, Intention tremor |
ORPHA:53372 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1 |
|
Small for gestational age, Tachypnea, Diaphragmatic paralysis, Respiratory failure, Failure to th... |
OMIM:604320 |
Spermatogenic Failure 62 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619673 |
Spermatogenic Failure 61 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619672 |
Central Diabetes Insipidus |
|
Anorexia, Weight loss, Depression, Lethargy, Polydipsia, Failure to thrive |
ORPHA:178029 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 21 |
|
Failure to thrive in infancy, Bilateral tonic-clonic seizure, Myoclonus, Ataxia |
OMIM:619065 |
Fatal Familial Insomnia |
|
Apnea, Ataxia, Dementia, Myoclonus, Dysphagia |
OMIM:600072 |
Infantile Neuroaxonal Dystrophy |
|
Psychomotor deterioration, Short attention span, Hyperactivity, Ataxia, Impulsivity, Unsteady gai... |
ORPHA:35069 |
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Waddling gait, Lower limb spasticity, Broad-based gait, Lumbar hyperlordosis, Ataxia, Kyphosis, I... |
OMIM:616756 |
Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency |
|
Tachypnea |
OMIM:245050 |
Brugada Syndrome 7 |
|
Atrial flutter, Paroxysmal atrial fibrillation, ST segment elevation, Permanent atrial fibrillati... |
OMIM:613120 |
Spermatogenic Failure 23 |
|
Male infertility, Azoospermia |
OMIM:617707 |
Spermatogenic Failure 4 |
|
Male infertility, Azoospermia |
OMIM:270960 |
Spermatogenic Failure 52 |
|
Male infertility, Azoospermia |
OMIM:619202 |
Spermatogenic Failure, Y-Linked, 2 |
|
Male infertility, Azoospermia |
OMIM:415000 |
Intellectual Developmental Disorder, X-Linked 82 |
|
Kyphosis, Seizure, Scoliosis |
OMIM:300518 |
X-Linked Non Progressive Cerebellar Ataxia |
|
Babinski sign, Unsteady gait, Clumsiness, Spastic dysarthria, Nonprogressive cerebellar ataxia, T... |
ORPHA:314978 |
Spastic Ataxia 2, Autosomal Recessive |
|
Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetria, Gait ataxia, Ankl... |
OMIM:611302 |
Pontocerebellar Hypoplasia, Type 6 |
|
Appendicular spasticity, Lower limb spasticity, Apnea, Upper limb spasticity, Lethargy, Spasticit... |
OMIM:611523 |
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome |
|
Malar flattening, Short stature, Widely spaced teeth, Dental malocclusion |
OMIM:616108 |
Amelogenesis Imperfecta, Type Ij |
|
Carious teeth, Widely spaced teeth, Increased overbite, Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:617297 |
Spastic Paraplegia 53, Autosomal Recessive |
|
Impaired vibratory sensation, Clonus, Kyphosis, Spastic paraplegia, Lower limb hypertonia, Gait d... |
OMIM:614898 |
Rolandic Epilepsy-Speech Dyspraxia Syndrome |
|
Focal-onset seizure, Short attention span, Seizure, Bilateral tonic-clonic seizure with focal onset |
ORPHA:163721 |
Vitamin B12-Responsive Methylmalonic Acidemia |
|
Hepatomegaly, Respiratory insufficiency, Hyperammonemia, Lethargy, Failure to thrive |
ORPHA:28 |
Spastic Ataxia 5, Autosomal Recessive |
|
Spastic ataxia, Bilateral tonic-clonic seizure, Ataxia, Dysmetria, Dysdiadochokinesis, Myoclonus,... |
OMIM:614487 |
Congenital Myopathy 11 |
|
Waddling gait, Neonatal respiratory distress, Apneic episodes in infancy |
OMIM:619967 |
Leukoencephalopathy With Calcifications And Cysts |
|
Ataxia, Tremor, Abnormal pyramidal sign, Focal motor seizure, Seizure, Gait disturbance, Cognitiv... |
ORPHA:542310 |
Cardiomyopathy, Dilated, 2B |
|
Reduced left ventricular ejection fraction, Congestive heart failure, Atrial fibrillation, Dilate... |
OMIM:614672 |
Hyperthyroidism, Familial Gestational |
|
Tachycardia |
OMIM:603373 |
Methylmalonic Acidemia With Homocystinuria |
|
Lethargy, Failure to thrive, Gait disturbance |
ORPHA:26 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Bilateral tonic-clonic seizure with generalized onset, Ataxia, Tremor, Focal-onset seizure, Myocl... |
OMIM:619092 |
Mt-Atp6-Related Mitochondrial Spastic Paraplegia |
|
Cardiomyopathy, Difficulty walking, Optic atrophy, Supraventricular arrhythmia |
ORPHA:320360 |
Epilepsy, Idiopathic Generalized |
|
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) se... |
OMIM:600669 |
Neurodegeneration With Brain Iron Accumulation 8 |
|
Ataxia, Tremor, Unsteady gait, Dysmetria, Loss of ambulation |
OMIM:617917 |
Generalized Epilepsy With Febrile Seizures Plus, Type 1 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... |
OMIM:604233 |
Cardiomyopathy, Dilated, 1Gg |
|
Respiratory distress, Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular ... |
OMIM:613642 |
Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ataxia, Myoclonus, Fasc... |
OMIM:607317 |
Neonatal Lupus Erythematosus |
|
Prolonged QT interval, Heart block, Dilated cardiomyopathy, Atrioventricular block, Abnormal elec... |
ORPHA:398124 |
Hyperekplexia 3 |
|
Exaggerated startle response, Apnea, Hypertonia, Myoclonus, Respiratory arrest |
OMIM:614618 |
Orthostatic Intolerance |
|
Orthostatic tachycardia |
OMIM:604715 |
Juvenile Amyotrophic Lateral Sclerosis |
|
Axial dystonia, Lower limb spasticity, Amyotrophic lateral sclerosis, Ataxia, Clonus, Cachexia, P... |
ORPHA:300605 |
Parkinson Disease 7, Autosomal Recessive Early-Onset |
|
Resting tremor, Postural tremor, Rigidity, Leg dystonia, Blepharospasm, Bradykinesia, Parkinsonis... |
OMIM:606324 |
Parkinsonism-Dystonia 2, Infantile-Onset |
|
Ataxia, Dysdiadochokinesis, Shuffling gait, Abnormal autonomic nervous system physiology, Tempera... |
OMIM:618049 |
Pontocerebellar Hypoplasia Type 2 |
|
Bilateral tonic-clonic seizure with generalized onset, Apnea, Simple febrile seizure, Oral-pharyn... |
ORPHA:2524 |
Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Hypertriglyceridemia, High palate |
OMIM:618010 |
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Increased LDL cholester... |
OMIM:616516 |
Aceruloplasminemia |
|
Torticollis, Ataxia, Akinesia, Tremor, Chorea, Limb ataxia, Gait ataxia, Blepharospasm, Cognitive... |
ORPHA:48818 |
Cyanide-Induced Parkinsonism-Dystonia |
|
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Falls, Shuffling gait, Short stepped shuffl... |
ORPHA:306692 |
Adiposis Dolorosa |
|
Obesity, Painful subcutaneous lipomas |
OMIM:103200 |
Cleft Lip/Palate |
|
Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Velopharyngeal in... |
ORPHA:199306 |
Intellectual Developmental Disorder, X-Linked 104 |
|
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Seizure, Frontal upsweep of hair, Spasticity |
OMIM:300983 |
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures |
|
Spastic ataxia, Seizure, Attention deficit hyperactivity disorder, Scoliosis, Abnormal repetitive... |
OMIM:618906 |
Citrullinemia Type Ii |
|
Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Acute hyperammonemia, Hyp... |
ORPHA:247585 |
Hsd10 Disease |
|
Short attention span, Ataxia, Postnatal growth retardation, Tremor, Rigidity, Choreoathetosis, Se... |
ORPHA:391417 |
Dystonia 2, Torsion, Autosomal Recessive |
|
Torticollis, Tremor, Torsion dystonia, Blepharospasm, Dysphagia |
OMIM:224500 |
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type) |
|
Hypertonia, Apnea, Opisthotonus |
OMIM:616896 |
Joubert Syndrome 3 |
|
Central apnea, Ataxia, Episodic tachypnea, Oculomotor apraxia, Neonatal breathing dysregulation |
OMIM:608629 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Hypertension, Tachycardia, Aganglionic megacolon, Abnormal autonomic nervous system physiology |
OMIM:613870 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypertriglyceridemia |
ORPHA:366 |
Atrial Tachyarrhythmia With Short Pr Interval |
|
Paroxysmal atrial tachycardia, Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Sho... |
OMIM:108950 |
Epilepsy, Familial Temporal Lobe, 2 |
|
Bilateral tonic-clonic seizure, Febrile status epilepticus, Focal impaired awareness seizure, Foc... |
OMIM:608096 |
Distal Myopathy, Tateyama Type |
|
Hypercholesterolemia, Abnormal circulating creatine kinase concentration, Distal sensory impairme... |
ORPHA:488650 |
Infantile Neuronal Ceroid Lipofuscinosis |
|
Generalized-onset seizure, Ataxia, Dystonia, Tremor, Chorea, Unsteady gait, Dysmetria, Clumsiness... |
ORPHA:79263 |
Spinocerebellar Ataxia Type 37 |
|
Tremor, Cogwheel rigidity, Dysdiadochokinesis, Gait disturbance, Myoclonus, Falls, Truncal ataxia... |
ORPHA:363710 |
Spinocerebellar Ataxia Type 14 |
|
Somatic sensory dysfunction, Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar a... |
ORPHA:98763 |
Erythermalgia, Primary |
|
Abnormal autonomic nervous system physiology, Palpitations |
OMIM:133020 |
Cortical Malformations, Occipital |
|
Focal impaired awareness automatism seizure, Bilateral tonic-clonic seizure |
OMIM:614115 |
X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Ataxia, Impaired pain sensation, Tremor, Kyphosis, Gait disturbance, Scoliosis |
ORPHA:101075 |
Lipoyltransferase 1 Deficiency |
|
Pulmonary arterial hypertension, Bradycardia |
OMIM:616299 |
Bardet-Biedl Syndrome 18 |
|
Obesity |
OMIM:615995 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 10 |
|
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Gen... |
OMIM:613060 |
Parkinson-Dementia Syndrome |
|
Tremor, Abnormal pyramidal sign, Rigidity, Parkinsonism |
OMIM:260540 |
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency |
|
Dystonia, Ataxia, Head titubation, Dysmetria, Myoclonus, Truncal ataxia, Lethargy, Failure to thrive |
OMIM:250620 |
Dravet Syndrome |
|
Photosensitive tonic-clonic seizure, Progressive gait ataxia, Status epilepticus without prominen... |
ORPHA:33069 |
Drug-Induced Lupus Erythematosus |
|
Fever, Dyspnea, Pericarditis, Prolonged QTc interval |
ORPHA:231111 |
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Malar prominence, Hypertriglyceridemia, Hepatic steatosis, Micrognathia |
ORPHA:436182 |
Spinocerebellar Ataxia 18 |
|
Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia |
OMIM:607458 |
Neurodevelopmental Disorder With Impaired Intellectual Development, Hypotonia, And Ataxia |
|
Mandibular prognathia, Mild short stature, High palate, Dental malocclusion |
OMIM:618292 |
Niemann-Pick Disease, Type B |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Dyspne... |
OMIM:607616 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress, Ataxia, Confusion, Paraplegia, Emotional lability, Seizure, Agitation, Cogn... |
ORPHA:927 |
Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Respiratory distress, Generalized-onset seizure, Failure to thrive in infancy, Respiratory insuff... |
ORPHA:254875 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Respiratory failure requiring assisted ventilation, Somatic sensory dysfunction, Elevated circula... |
ORPHA:90117 |
Variegate Porphyria |
|
Tachycardia |
OMIM:176200 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased circulating ceruloplasmin concentration, E... |
OMIM:616828 |
Basal Ganglia Calcification, Idiopathic, 5 |
|
Postural tremor, Parkinsonism, Chorea, Hand tremor, Depression, Athetosis, Dementia, Cognitive im... |
OMIM:615483 |
Congenital Myopathy 9A |
|
Tongue fasciculations, Obesity, Akinesia, Cryptorchidism |
OMIM:618822 |
Combined Oxidative Phosphorylation Deficiency 57 |
|
Apnea, Left ventricular noncompaction cardiomyopathy, Central hypoventilation, Cardiac arrest, Un... |
OMIM:620167 |
Isolated Succinate-Coq Reductase Deficiency |
|
Severe short stature, Ataxia, Proportionate short stature, Spastic tetraparesis, Babinski sign, P... |
ORPHA:3208 |
Spermatogenic Failure 35 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618341 |
Oculopharyngodistal Myopathy |
|
Progressive sensorineural hearing impairment, Respiratory insufficiency due to muscle weakness, F... |
ORPHA:98897 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Hyperactivity, Bilateral tonic-clonic seizure, Abnormal repetitive mannerisms, Chorea, Generalize... |
OMIM:617600 |
Parkinson Disease 19A, Juvenile-Onset |
|
Parkinsonism, Rigidity, Abnormal pyramidal sign, Bradykinesia, Seizure, Pill-rolling tremor, Shuf... |
OMIM:615528 |
Supranuclear Palsy, Progressive, 2 |
|
Axial dystonia, Postural tremor, Akinesia, Bradykinesia, Irritability, Falls, Gait imbalance, Ret... |
OMIM:609454 |
Clcn4-Related X-Linked Intellectual Disability Syndrome |
|
Hyperactivity, Bilateral tonic-clonic seizure, Infantile spasms, Aggressive behavior, Chorea, Uns... |
ORPHA:485350 |
Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Ataxia, Bilateral tonic-clonic seizure, Bradykinesia, Generalized myoclonic seizure, Myoclonic ab... |
OMIM:617836 |
Dystonia 13, Torsion, Autosomal Dominant |
|
Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula... |
OMIM:607671 |
Potocki-Lupski Syndrome |
|
Mandibular prognathia, Dental crowding, Small for gestational age, Micrognathia, Dental malocclus... |
OMIM:610883 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 14 |
|
Short stature, Obesity |
OMIM:619058 |
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Dystonia, Bilateral tonic-clonic seizure, Oculogyric crisis, Tremor, Focal-onset seizure, Inabili... |
ORPHA:330050 |
Dentin Dysplasia, Type I |
|
Pulp obliteration, Periapical bone loss, Oligodontia, Taurodontia, Short dental root, Microdontia... |
OMIM:125400 |
Parkinson Disease 6, Autosomal Recessive Early-Onset |
|
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Dystonia |
OMIM:605909 |
Infantile Cerebellar-Retinal Degeneration |
|
Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Athetosis, Decreased body weight, Fa... |
OMIM:614559 |
Obesity, Hyperphagia, And Developmental Delay |
|
Abnormal repetitive mannerisms, Polyphagia, Obesity |
OMIM:613886 |
Cln5 Disease |
|
Hyperactivity, Generalized-onset seizure, Ataxia, Abnormal central motor function, Aggressive beh... |
ORPHA:228360 |
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency |
|
Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Interstitial pneumon... |
ORPHA:217563 |
Scorpion Envenomation |
|
Fever, Bundle branch block, Tachycardia, Cardiac conduction abnormality, Congestive heart failure... |
ORPHA:466677 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Bilateral tonic-clonic seizure, Sudden cardiac death, Cardiomegaly, Tachypnea, Hepa... |
OMIM:201475 |
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp |
|
Focal hemifacial clonic seizure, Bilateral tonic-clonic seizure, Focal motor seizure, Myoclonus |
OMIM:608105 |
Summitt Syndrome |
|
Obesity |
OMIM:272350 |
Acute Lung Injury |
|
Respiratory distress, Pneumonia, Dyspnea, Tachypnea, Hypoxemia, Respiratory failure |
ORPHA:178320 |
Cardiomyopathy, Familial Hypertrophic, 17 |
|
Atrial fibrillation, Angina pectoris, Dyspnea, Ventricular tachycardia, Palpitations, Hypertrophi... |
OMIM:613873 |
Neuropathy, Congenital Hypomyelinating, 2 |
|
Decreased motor nerve conduction velocity, Inability to walk, Hypokinesia, Sensory ataxia |
OMIM:618184 |
Obesity Due To Sim1 Deficiency |
|
Postural hypotension with compensatory tachycardia, Abnormal autonomic nervous system physiology,... |
ORPHA:369873 |
Spermatogenic Failure 34 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... |
OMIM:618153 |
Spermatogenic Failure 72 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... |
OMIM:619867 |
Hemifacial Atrophy, Progressive |
|
Delayed eruption of teeth, Tongue atrophy, Ataxia, Dental malocclusion, Short mandibular rami |
OMIM:141300 |
Spermatogenic Failure, X-Linked, 5 |
|
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... |
OMIM:301099 |
Cln3 Disease |
|
Bilateral tonic-clonic seizure, Ataxia, Aggressive behavior, Focal-onset seizure, Loss of ambulat... |
ORPHA:228346 |
Persistent Idiopathic Facial Pain |
|
Abnormal autonomic nervous system physiology |
ORPHA:398147 |
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Mandibular prognathia, Dental malocclusion, Short stature, Abnormality of the dentition |
ORPHA:1858 |
Developmental And Epileptic Encephalopathy 107 |
|
Clonic seizure, Seizure, Abnormal repetitive mannerisms, Tonic seizure |
OMIM:620033 |
Heart Block, Congenital |
|
Atrioventricular block, Absent atrioventricular node, Cardiomyopathy, Mitral regurgitation, Atria... |
OMIM:234700 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Hyperactivity, Dystonia, Ataxia, Akinesia, Tremor, Phonic tics, Depression, Choreoathetosis, Brad... |
OMIM:234200 |
Dysautonomia-Like Disorder |
|
Abnormal autonomic nervous system physiology |
OMIM:224000 |
Congenital Disorder Of Glycosylation, Type Iaa |
|
Pseudobulbar paralysis, Failure to thrive, Bilateral tonic-clonic seizure, Status epilepticus |
OMIM:617082 |
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Generalized-onset seizure, Tremor, Respiratory insufficiency due to muscle weakness, Dementia, My... |
OMIM:159950 |
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Spastic ataxia, Somatic sensory dysfunction, Bilateral tonic-clonic seizure, Aggressive behavior,... |
ORPHA:199354 |
Myopathy Due To Myoadenylate Deaminase Deficiency |
|
Increased muscle fatiguability |
OMIM:615511 |
Spinocerebellar Ataxia 42 |
|
Spastic ataxia, Ataxia, Tremor, Unsteady gait, Abnormal pyramidal sign, Babinski sign, Depression... |
OMIM:616795 |
Alpha-Methylacyl-Coa Racemase Deficiency |
|
Ataxia, Tremor, Elevated circulating phytanic acid concentration, Depression, Hemiparesis, Abnorm... |
OMIM:614307 |
Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Fever, Atrial flutter, Tachycardia, Atrial fibrillation, Junction... |
ORPHA:137675 |
Mitchell Syndrome |
|
Abnormal autonomic nervous system physiology, Difficulty walking |
OMIM:618960 |
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Pulmonary embolism, Congestive heart failure, Hypertension, Hypertrophic cardiomyopathy, Arrhythmia |
ORPHA:1345 |
Parkinson Disease 1, Autosomal Dominant |
|
Resting tremor, Dystonia, Depression, Bradykinesia, Dementia, Gait disturbance, Shuffling gait, M... |
OMIM:168601 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Myoclonic seizure, Low frustration tolerance, Abnormal repetitive mannerisms, Hyperactivity, Atax... |
ORPHA:168491 |
Striatal Degeneration, Autosomal Dominant 1 |
|
Bradykinesia, Dysdiadochokinesis, Gait disturbance, Hypokinesia |
OMIM:609161 |
Pyruvate Dehydrogenase E3 Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Elevated circulating branched cha... |
ORPHA:2394 |
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures |
|
Respiratory distress, Inability to walk, Spastic paraplegia, Focal tonic seizure, Spastic tetrapl... |
OMIM:617977 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type |
|
Obesity |
OMIM:309585 |
Van Der Woude Syndrome 2 |
|
Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia |
OMIM:606713 |
Late-Onset Distal Myopathy, Markesbery-Griggs Type |
|
Heart block, Abnormal left ventricular function, Cardiomyopathy, Gait disturbance, Loss of ambula... |
ORPHA:98912 |
Hyperekplexia 1 |
|
Exaggerated startle response, Apnea, Hypertonia, Myoclonus, Aspiration, Frequent falls |
OMIM:149400 |
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders |
|
Overweight, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:620065 |
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome |
|
Chorea, Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence... |
ORPHA:79137 |
Cocaine Intoxication |
|
Respiratory distress, Prolonged QT interval, Tachycardia, Fever, Prolonged QRS complex, Myocardia... |
ORPHA:90068 |
Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Cirrhosis, Hypercholesterolemia, Hepa... |
ORPHA:75234 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Childhood-onset truncal obesity, Obesity, Increased adipose tissue |
ORPHA:71529 |
Spastic Paraplegia 6, Autosomal Dominant |
|
Lower limb spasticity, Clonus, Tremor, Babinski sign, Spastic paraplegia, Impaired vibration sens... |
OMIM:600363 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Neonatal respiratory distress, Nonspecific interstitial pneumonia, Apnea, F... |
OMIM:610921 |
Familial Thyroid Dyshormonogenesis |
|
Lethargy, Bradycardia, Hypothermia |
ORPHA:95716 |
Deafness-Infertility Syndrome |
|
Male infertility, Azoospermia |
ORPHA:94064 |
Juvenile Absence Epilepsy |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizur... |
ORPHA:1941 |
Rasmussen Subacute Encephalitis |
|
Epilepsia partialis continua, Epileptic spasm, Repeated focal motor seizures, Bilateral tonic-clo... |
ORPHA:1929 |
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Apnea, Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Ataxia, Focal-onset seizure... |
ORPHA:395 |
Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Elevated circulating creatine kinase concentration, Tremor, Inability to walk, Impaired distal vi... |
ORPHA:276435 |
X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Ataxia, Impaired pain sensation, Tremor, Kyphosis, Gait disturbance, Scoliosis |
ORPHA:101078 |
Cerebellar Atrophy, Developmental Delay, And Seizures |
|
Bilateral tonic-clonic seizure with focal onset, Myoclonic seizure |
OMIM:617643 |
Spermatogenic Failure 20 |
|
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:617593 |
Combined Oxidative Phosphorylation Deficiency 23 |
|
Congestive heart failure, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Arrhythmia |
OMIM:616198 |
Mitochondrial Complex I Deficiency, Nuclear Type 28 |
|
Generalized-onset seizure, Akinesia, Choreoathetosis, Truncal ataxia, Failure to thrive |
OMIM:618249 |
2-Methylbutyryl-Coa Dehydrogenase Deficiency |
|
Lethargy, Apneic episodes in infancy |
OMIM:610006 |
Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Parkinsonism, Tremor, Babinski sign, Scissor gait, Ankle clonus, Bradykinesia, Dystonia, Oromandi... |
ORPHA:521406 |
Cortical Dysplasia, Complex, With Other Brain Malformations 2 |
|
Clonic seizure, Spastic tetraplegia, Seizure, Self-injurious behavior, Hypertonia, Abnormal repet... |
OMIM:615282 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Respiratory distress, Apnea, Prolonged QRS complex, Left axis deviation, Congestive heart failure... |
OMIM:261740 |
Myasthenic Syndrome, Congenital, 24, Presynaptic |
|
Oculomotor apraxia, Apnea, Respiratory insufficiency |
OMIM:618198 |
Developmental And Epileptic Encephalopathy 47 |
|
Bilateral tonic-clonic seizure, Ataxia, Tonic seizure, Focal-onset seizure, Inability to walk, Li... |
OMIM:617166 |
Cerebral Creatine Deficiency Syndrome 2 |
|
Lower limb spasticity, Bilateral tonic-clonic seizure, Ataxia, Aggressive behavior, Tremor, Rigid... |
OMIM:612736 |
Ethylene Glycol Poisoning |
|
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Hypothermia, Congestive heart fai... |
ORPHA:31826 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Hepatomegaly, Ataxia, Paraparesis, Hyperammonemia, Respiratory insufficiency, Choreoathetosis, Te... |
ORPHA:27 |
Optic Atrophy 3, Autosomal Dominant |
|
Tremor, Abnormality of extrapyramidal motor function |
OMIM:165300 |
Spermatogenic Failure 30 |
|
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest |
OMIM:618110 |
Glutamine Deficiency, Congenital |
|
Neonatal respiratory distress, Apnea, Bradycardia |
OMIM:610015 |
Spermatogenic Failure 33 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618152 |
Spermatogenic Failure 18 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:617576 |
Spermatogenic Failure 46 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:619095 |
Spermatogenic Failure 37 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618429 |
Spermatogenic Failure 27 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:617965 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Delayed eruption of teeth, Increased body mass index, Broad-based gait, Increased T3/T4 ratio, In... |
OMIM:614450 |
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity |
|
Choreoathetosis, Episodic ataxia, Bilateral tonic-clonic seizure, Paresthesia |
ORPHA:53583 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14 |
|
Prolonged QT interval |
OMIM:615351 |
Cardiomyopathy, Familial Hypertrophic, 20 |
|
Reduced left ventricular ejection fraction, Hypertrophic cardiomyopathy, Atrial fibrillation |
OMIM:613876 |
Cyclic Vomiting Syndrome |
|
Ataxia, Anorexia, Attention deficit hyperactivity disorder, Cognitive impairment, Lethargy |
OMIM:500007 |
Neurodegeneration With Brain Iron Accumulation 3 |
|
Dystonia, Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Subcorti... |
OMIM:606159 |
Supranuclear Palsy, Progressive, 1 |
|
Limb dystonia, Axial dystonia, Akinesia, Tremor, Bradykinesia, Irritability, Falls, Gait imbalanc... |
OMIM:601104 |
Tuberculosis |
|
Weight loss, Cough |
ORPHA:3389 |
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
|
Hyperactivity, Generalized-onset seizure, Bilateral tonic-clonic seizure, Impulsivity, Aggressive... |
OMIM:604317 |
Generalized Epilepsy With Febrile Seizures Plus, Type 4 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... |
OMIM:609800 |
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10 |
|
Generalized myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bil... |
OMIM:617924 |
Spinocerebellar Ataxia Type 40 |
|
Broad-based gait, Unsteady gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spastic paraparesis,... |
ORPHA:423275 |
Severe Intellectual Disability And Progressive Spastic Paraplegia |
|
Waddling gait, Shyness, Babinski sign, Spastic dysarthria, Seizure, Difficulty walking, Dystonia,... |
ORPHA:280763 |
Idiopathic Achalasia |
|
Wheezing, Weight loss, Recurrent aspiration pneumonia, Cough |
ORPHA:930 |
Febrile Infection-Related Epilepsy Syndrome |
|
EEG abnormality, Lethargy |
ORPHA:163703 |
Pitt-Hopkins-Like Syndrome 1 |
|
Hyperactivity, Generalized-onset seizure, Ataxia, Bilateral tonic-clonic seizure with focal onset... |
OMIM:610042 |
Bardet-Biedl Syndrome 10 |
|
Obesity |
OMIM:615987 |
Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion |
|
Seizure precipitated by febrile infection, Takotsubo cardiomyopathy, Bilateral tonic-clonic seizu... |
ORPHA:363549 |
Late-Infantile/Juvenile Krabbe Disease |
|
Tremor, Neuromuscular dysphagia, Loss of ambulation, Ataxia, Clumsiness, Impaired tactile sensati... |
ORPHA:206443 |
Ceroid Lipofuscinosis, Neuronal, 3 |
|
Psychomotor deterioration, Bilateral tonic-clonic seizure, Seizure, Dementia, Myoclonus, Loss of ... |
OMIM:204200 |
Intellectual Developmental Disorder, Autosomal Dominant 56 |
|
Bradyphrenia, Short attention span, Broad-based gait, Ataxia, Impulsivity, Inability to walk, Bra... |
OMIM:617854 |
Epilepsy, Familial Temporal Lobe, 6 |
|
Bilateral tonic-clonic seizure with focal onset, Focal impaired awareness seizure, Status epilept... |
OMIM:615697 |
Short Stature Due To Primary Acid-Labile Subunit Deficiency |
|
Growth delay, Truncal obesity, Delayed puberty |
ORPHA:140941 |
Developmental And Epileptic Encephalopathy 108 |
|
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure with focal ... |
OMIM:620115 |
Muscular Dystrophy, Congenital, With Or Without Seizures |
|
Respiratory distress, Generalized-onset seizure, Ataxia, Focal-onset seizure, Mental deterioratio... |
OMIM:620166 |
Lissencephaly 3 |
|
Seizure, Bilateral tonic-clonic seizure, Ataxia, Generalized tonic seizure |
OMIM:611603 |
Parkinsonism-Dystonia 3, Childhood-Onset |
|
Ataxia, Parkinsonism, Aggressive behavior, Tremor, Chorea, Dysphagia, Hypertonia, Hyperkinetic mo... |
OMIM:619738 |
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type |
|
Arrhythmia |
ORPHA:1808 |
Autism, Susceptibility To, X-Linked 6 |
|
Obesity |
OMIM:300872 |
Pelizaeus-Merzbacher Disease |
|
Writer's cramp, Tremor, Abnormal pyramidal sign, Congenital laryngeal stridor, Choreoathetosis, I... |
OMIM:312080 |
Kcnq2-Related Epileptic Encephalopathy |
|
Epileptic spasm, Apnea, Inability to walk, Seizure, Generalized tonic seizure |
ORPHA:439218 |
Combined Oxidative Phosphorylation Deficiency 6 |
|
Seizure, Generalized-onset seizure, Irritability, Hypokinesia |
OMIM:300816 |
Spermatogenic Failure 65 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619712 |
Propionic Acidemia |
|
Apnea, Tachypnea, Lethargy, Failure to thrive, Limb hypertonia |
OMIM:606054 |
Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Respiratory failure requiring assisted ventilation, Tricuspid regurgitation, Small ... |
ORPHA:555874 |
Bilateral Generalized Polymicrogyria |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Oculogyric crisis, Infantile spasms, O... |
ORPHA:208447 |
Spermatogenic Failure 17 |
|
Male infertility |
OMIM:617214 |
Myxopapillary Ependymoma |
|
Unsteady gait, Autonomic bladder dysfunction |
ORPHA:251643 |
Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Hypercholesterolemia |
OMIM:301033 |
Developmental And Epileptic Encephalopathy 102 |
|
Hepatomegaly, Atrial septal defect, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizur... |
OMIM:619881 |
Autism, Susceptibility To, X-Linked 2 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:300495 |
Dystonia 24 |
|
Torticollis, Limb tremor, Blepharospasm, Arm dystonia, Head tremor, Oromandibular dystonia |
OMIM:615034 |
Lamb-Shaffer Syndrome |
|
Hyperactivity, Ataxia, Fused cervical vertebrae, Seizure, Thoracic kyphosis, Scoliosis, Abnormal ... |
ORPHA:530983 |
Oxoglutarate Dehydrogenase Deficiency |
|
Bilateral tonic-clonic seizure, Unsteady gait, Dysmetria, Gait ataxia, Falls |
OMIM:203740 |
Peripartum Cardiomyopathy |
|
Crackles, Ventricular tachycardia, Left bundle branch block, Abnormal T-wave, Dilated cardiomyopa... |
ORPHA:563 |
X-Linked Dystonia-Parkinsonism |
|
Resting tremor, Chorea, Torsion dystonia, Hand tremor, Focal dystonia, Blepharospasm, Bradykinesi... |
ORPHA:53351 |
Epilepsy, Juvenile Absence, Susceptibility To, 1 |
|
Generalized myoclonic seizure, Bilateral tonic-clonic seizure on awakening, Generalized non-motor... |
OMIM:607631 |
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Self-injurious behavior, Hyperactivity, Aggressive behavior |
OMIM:619031 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Truncal obesity, Bilateral tonic-clonic seizure, Obesity, Large for gestational age |
OMIM:240900 |
Hypobetalipoproteinemia, Familial, 1 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Ataxia, Elevated circulating aspar... |
OMIM:615558 |
Severe Canavan Disease |
|
Inability to walk, Lethargy, Irritability, Oral-pharyngeal dysphagia |
ORPHA:314911 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Waddling gait, Ventricular escape rhythm, Supraventricular arrhythmia, Sudden cardiac death, Dila... |
ORPHA:98855 |
Perry Syndrome |
|
Parkinsonism, Central hypoventilation, Tremor, Weight loss, Depression, Dementia, Abnormality of ... |
ORPHA:178509 |
Spermatogenic Failure 19 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:617592 |
Spermatogenic Failure 82 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... |
OMIM:620353 |
Spermatogenic Failure 43 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618751 |
Spermatogenic Failure 49 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619144 |
Spermatogenic Failure 45 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619094 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 11 |
|
Generalized myoclonic seizure, Bilateral tonic-clonic seizure on awakening, Generalized non-motor... |
OMIM:607628 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type |
|
Hyperactivity, Kyphosis, Seizure, Scoliosis, Bruxism, Hirsutism |
OMIM:300434 |
Idiopathic Bronchiectasis |
|
Cachexia, Crackles, Productive cough, Dyspnea, Wheezing, Bronchiectasis, Abnormal respiratory sys... |
ORPHA:60033 |
Congenital Myopathy 14 |
|
Respiratory insufficiency due to muscle weakness, Respiratory failure, Apnea |
OMIM:618414 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Aortic regurgitation, Tricuspid regurgitation, First degree atrioventricular block, Congestive he... |
OMIM:620066 |
Seizures, Benign Familial Neonatal, 1 |
|
Febrile seizure (within the age range of 3 months to 6 years), Focal clonic seizure, Bilateral to... |
OMIM:121200 |
Muscular Dystrophy, Cardiac Type |
|
Abnormal EKG, Cardiomyopathy |
OMIM:309930 |
Spinocerebellar Ataxia 7 |
|
Tremor, Chorea, Babinski sign, Dysmetria, Progressive cerebellar ataxia, Abnormality of extrapyra... |
OMIM:164500 |
Autosomal Dominant Spastic Paraplegia Type 6 |
|
Impaired vibratory sensation, Bilateral tonic-clonic seizure, Gait disturbance |
ORPHA:100988 |
Spermatogenic Failure 56 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619515 |
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome |
|
Truncal obesity, Spasticity, Childhood-onset truncal obesity |
OMIM:610156 |
Lafora Disease |
|
Ataxia, Confusion, Focal sensory seizure with visual features, Depression, Seizure, Gait disturba... |
ORPHA:501 |
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Tremor, Ataxia, Exercise-induced muscle fatigue |
ORPHA:713 |
Intellectual Developmental Disorder, X-Linked 100 |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure |
OMIM:300923 |
Unilateral Focal Polymicrogyria |
|
Bilateral tonic-clonic seizure with focal onset, Simple febrile seizure, Aggressive behavior, Foc... |
ORPHA:268947 |
Partial Chromosome Y Deletion |
|
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... |
ORPHA:1646 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Micrognathia, Obesity, Poor fine motor coordination, High palate, Short philtrum, Hypercholestero... |
ORPHA:254531 |
Propionic Acidemia |
|
Cardiomyopathy, Arrhythmia |
ORPHA:35 |
Temple Syndrome |
|
Hypertriglyceridemia, Small for gestational age, Micrognathia, Overweight, Obesity, Cleft palate,... |
OMIM:616222 |
Alexander Disease Type I |
|
Ataxia, Cachexia, Abnormal pyramidal sign, Spasticity, Palatal tremor, Failure to thrive |
ORPHA:363717 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Hyperactivity, Bilateral tonic-clonic seizure, Inflexible adherence to routines |
OMIM:301076 |
Simpson-Golabi-Behmel Syndrome, Type 2 |
|
Neonatal respiratory distress, Obesity |
OMIM:300209 |
Leukoencephalopathy With Vanishing White Matter 1 |
|
Unsteady gait, Emotional lability, Gait disturbance, Memory impairment, Lethargy |
OMIM:603896 |
Dopamine Beta-Hydroxylase Deficiency |
|
Abnormal EKG, Orthostatic hypotension, Hypothermia, Dyspnea, Rhinitis, Orthostatic syncope, Syncope |
ORPHA:230 |
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Ataxia, Tremor, Oculomotor apraxia, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Limb ataxia,... |
OMIM:617145 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia |
OMIM:610947 |
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability |
|
Lower limb spasticity, Spinal rigidity, Hyperlordosis, Kyphosis, Seizure, Tip-toe gait, Gait dist... |
OMIM:617404 |
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type) |
|
Rigidity, Inability to walk, Chorea, Babinski sign, Abnormal pyramidal sign, Paraparesis, Truncal... |
OMIM:607483 |
Spastic Paraplegia 46, Autosomal Recessive |
|
Impaired vibratory sensation, Lower limb spasticity, Kyphosis, Babinski sign, Spastic paraplegia,... |
OMIM:614409 |
Oromandibular Dystonia |
|
Respiratory distress, Torticollis, Generalized dystonia, Abnormality of the temporomandibular joi... |
ORPHA:93958 |
Emery-Dreifuss Muscular Dystrophy |
|
Ventricular escape rhythm, Sudden cardiac death, Supraventricular arrhythmia, Respiratory insuffi... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Ventricular escape rhythm, Sudden cardiac death, Supraventricular arrhythmia, Respiratory insuffi... |
ORPHA:98853 |
Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
Bilateral tonic-clonic seizure, Inability to walk, Generalized non-motor (absence) seizure, Dysme... |
OMIM:617810 |
Meningococcal Meningitis |
|
Shock, Fever, Neonatal respiratory distress, Hypothermia, Hypotension |
ORPHA:33475 |
Liddle Syndrome |
|
Hypertension, Arrhythmia, Cerebral ischemia |
ORPHA:526 |
Xeroderma Pigmentosum, Complementation Group G |
|
Small for gestational age, Ataxia, Infantile spasms, Tremor, Growth delay, Spasticity |
OMIM:278780 |
48,Xxyy Syndrome |
|
Apnea, Ataxia, Asthma, Depression, Seizure, Attention deficit hyperactivity disorder, Abnormal re... |
ORPHA:10 |
Riboflavin Transporter Deficiency |
|
Ataxia, Cachexia, Tremor, Respiratory insufficiency, Myoclonus |
ORPHA:97229 |
Developmental And Epileptic Encephalopathy 91 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Unsteady gait, Focal motor seizur... |
OMIM:617711 |
Riboflavin Deficiency |
|
Lethargy, Hypothermia |
OMIM:615026 |
Nemaline Myopathy 2 |
|
Waddling gait, Apnea, Respiratory insufficiency due to muscle weakness, Inability to walk, Steppa... |
OMIM:256030 |
2Q24 Microdeletion Syndrome |
|
Central apnea, Failure to thrive, Small for gestational age |
ORPHA:1617 |
Rubinstein-Taybi Syndrome 2 |
|
Short stature, Micrognathia, Carious teeth, Talon cusp, Dental malocclusion, Narrow palate, High ... |
OMIM:613684 |
Body Mass Index Quantitative Trait Locus 20 |
|
Polyphagia, Obesity, Tall stature |
OMIM:618406 |
Glycogen Storage Disease Ixa1 |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hyperuricemia, H... |
OMIM:306000 |
Trichothiodystrophy 9, Nonphotosensitive |
|
High, narrow palate, Dental malocclusion, Ataxia |
OMIM:619692 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Small for gestational age, Episodic tachypnea |
OMIM:615160 |
Unilateral Hemispheric Polymicrogyria |
|
Bilateral tonic-clonic seizure, Infantile spasms, Focal atonic seizure, Focal-onset seizure, Gene... |
ORPHA:101071 |
Parkinson Disease 4, Autosomal Dominant |
|
Orthostatic hypotension, Abnormal autonomic nervous system physiology |
OMIM:605543 |
Intellectual Developmental Disorder, X-Linked 108 |
|
Thin upper lip vermilion, Broad-based gait, Overweight, Babinski sign, Difficulty walking, Long p... |
OMIM:301024 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder |
OMIM:301008 |
Syndromic X-Linked Intellectual Disability 7 |
|
Hypoplasia of penis, Abnormal dental morphology, Cryptorchidism, Tooth malposition, Obesity, Hypo... |
ORPHA:85274 |
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome |
|
Small for gestational age, Ataxia, Decreased response to growth hormone stimulation test, Abnorma... |
ORPHA:3363 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Hypertrophic cardiomyopathy, Pleural effusion, Bradycardia |
OMIM:614702 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Hepatomegaly, Respiratory insufficiency, Large for gestational age |
ORPHA:2432 |
Childhood Disintegrative Disorder |
|
Social and occupational deterioration, Dementia, Abnormal emotion, Progressive language deteriora... |
ORPHA:168782 |
Spinocerebellar Ataxia, Autosomal Recessive 8 |
|
Optic atrophy, Limb ataxia, Dysmetria, Gait ataxia, Abnormal autonomic nervous system physiology |
OMIM:610743 |
Paroxysmal Non-Kinesigenic Dyskinesia |
|
Torticollis, Involuntary movements, Rigidity, Dyspnea, Chorea, Choreoathetosis, Hyperkinetic move... |
ORPHA:98810 |
Acquired Methemoglobinemia |
|
Respiratory distress, Tachycardia, Dyspnea, Hypoxemia, Syncope, Palpitations, Arrhythmia |
ORPHA:464453 |
Auriculocondylar Syndrome 1 |
|
Dental crowding, Micrognathia, Dental malocclusion, Cleft palate, Mandibular condyle hypoplasia, ... |
OMIM:602483 |
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome |
|
Ataxia, Cryptorchidism, Gait disturbance, Hypodontia, Microdontia |
ORPHA:1174 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Elevated circulating creatine kinase concentration, Hyperamylasemia, Elevated circulating asparta... |
OMIM:619386 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Fever, Hyperpyrexia, Neonatal respiratory distress, Tachycardia, Apnea, Retinal hemorrhage, Strid... |
OMIM:614653 |
Spinocerebellar Ataxia 19 |
|
Postural tremor, Limb ataxia, Cogwheel rigidity, Gait ataxia, Progressive cerebellar ataxia, Dysp... |
OMIM:607346 |
Congenital Neuronal Ceroid Lipofuscinosis |
|
Neonatal respiratory distress, Apnea, Myoclonic seizure, Seizure, Respiratory failure, Status epi... |
ORPHA:168486 |
Spermatogenic Failure, X-Linked, 3 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... |
OMIM:301059 |
Non-Specific Early-Onset Epileptic Encephalopathy |
|
Ataxia, Short stature, Impulsivity, Abnormality of coordination, Tremor, Involuntary movements, R... |
ORPHA:442835 |
Severe X-Linked Mitochondrial Encephalomyopathy |
|
Respiratory distress, Involuntary movements, Respiratory insufficiency, Irritability, Tongue fasc... |
ORPHA:238329 |
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type |
|
Methylmalonic acidemia, Hypomethioninemia, Hyperhomocystinemia, Hypertonia, Gait disturbance, Hyp... |
OMIM:236270 |
Roussy-Lévy Syndrome |
|
Impaired vibratory sensation, Somatic sensory dysfunction, Postural tremor, Kyphoscoliosis, Impai... |
ORPHA:3115 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Dysphagia, Lethargy, Fail... |
OMIM:613561 |
Intellectual Developmental Disorder With Severe Speech And Ambulation Defects |
|
Inability to walk, Broad-based gait, Bilateral tonic-clonic seizure, Infantile spasms |
OMIM:618470 |
Morgagni-Stewart-Morel Syndrome |
|
Obesity, Depression, Hyperuricemia, Hypercholesterolemia, Action tremor |
ORPHA:77296 |
Classic Galactosemia |
|
Speech apraxia, Hepatomegaly, Elevated hepatic transaminase, Incoordination, Ataxia, Postural tre... |
ORPHA:79239 |
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Slender build, Ataxia, Cachexia, Weight loss |
OMIM:613662 |
Spermatogenic Failure 48 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia |
OMIM:619108 |
Developmental And Epileptic Encephalopathy 63 |
|
Epileptic spasm, Generalized-onset seizure, Bilateral tonic-clonic seizure, Inability to walk, My... |
OMIM:617976 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type |
|
Parkinsonism, Rigidity, Babinski sign, Slurred speech, Impaired tandem gait, Bradykinesia, Gait d... |
OMIM:300423 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypertyrosinemia, Decreased HDL cholesterol concentration, Failure to thrive, Hypertriglyceridemi... |
OMIM:605814 |
Spermatogenic Failure 83 |
|
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... |
OMIM:620354 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Lethargy, Agitation, Increased body weight, Progressive neurologic deterioration |
ORPHA:276608 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Ventricular escape rhythm, Sudden cardiac death, Supraventricular arrhythmia, Respiratory insuffi... |
ORPHA:98863 |
Laryngeal Neuroendocrine Tumor |
|
Weight loss, Adrenocorticotropic hormone excess, Increased serum serotonin, Elevated circulating ... |
ORPHA:100083 |
Neuronal Intranuclear Inclusion Disease |
|
Somatic sensory dysfunction, Ataxia, Tremor, Rigidity, Seizure, Dementia, Gait disturbance, Cogni... |
OMIM:603472 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatosplenomegaly, Hypocalcemia, Hypercholeste... |
OMIM:612526 |
Malaria |
|
Respiratory distress, Gait imbalance, Cognitive impairment |
ORPHA:673 |
Birk-Aharoni Syndrome |
|
Micrognathia, Inability to walk, Chorea, Cryptorchidism, Spastic tetraplegia, Micropenis, Failure... |
OMIM:620071 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Growth delay, Short stature, Obesity |
ORPHA:171706 |
Gaucher Disease, Perinatal Lethal |
|
Akinesia, Progressive neurologic deterioration, Opisthotonus, Seizure, Dysphagia, Decreased body ... |
OMIM:608013 |
Spermatogenic Failure 29 |
|
Male infertility, Non-obstructive azoospermia, Immotile sperm |
OMIM:618091 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Hyperlipidemia, Hand tremor, Tetraplegia, Distal sensory impairment, Gait disturbance, Fasciculat... |
OMIM:604484 |
Systemic Primary Carnitine Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Bilateral tonic-clonic seizure with focal onset |
ORPHA:158 |
X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Kyphosis, Hyperactivity, Seizure, Hirsutism |
ORPHA:85288 |
Chronic Hiccup |
|
Weight loss, Depression |
ORPHA:396 |
Atypical Progressive Supranuclear Palsy Syndrome |
|
Speech apraxia, Freezing of gait, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidit... |
ORPHA:99750 |
Adult-onset autosomal dominant leukodystrophy (ADLD) |
|
Abnormal autonomic nervous system physiology |
DECIPHER:59 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Cerebellar dysplasia |
OMIM:615041 |
Familial Hyperaldosteronism Type Iii |
|
Prolonged QT interval, Hypertension, Epistaxis, Intracranial hemorrhage |
ORPHA:251274 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2 |
|
Thoracic scoliosis, Broad-based gait, Ataxia, Tremor, Dysmetria, Gait ataxia, Dysdiadochokinesis,... |
OMIM:610185 |
Developmental And Epileptic Encephalopathy 90 |
|
Ankle clonus, Babinski sign, Apneic episodes in infancy, Limb hypertonia |
OMIM:301058 |
Spastic Paraplegia 47, Autosomal Recessive |
|
Waddling gait, Overweight, Inability to walk, Babinski sign, Spastic paraplegia, Wide mouth, Hype... |
OMIM:614066 |
Spermatogenic Failure 25 |
|
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia |
OMIM:617960 |
Cog4-Cdg |
|
Elevated hepatic transaminase, Fatal liver failure in infancy, Ataxia, Failure to thrive in infan... |
ORPHA:263501 |
Cardiomyopathy, Familial Hypertrophic, 18 |
|
Hypertrophic cardiomyopathy, Paroxysmal atrial fibrillation, Atrial fibrillation |
OMIM:613874 |
Necrotizing Enterocolitis |
|
Shock, Apnea, Bradycardia, Hypotension, Temperature instability |
ORPHA:391673 |
Inherited Creutzfeldt-Jakob Disease |
|
Tremor, Chorea, Abnormal pyramidal sign, Gait ataxia, Spastic dysarthria, Progressive extrapyrami... |
ORPHA:282166 |
Neurodevelopmental Disorder With Involuntary Movements |
|
Bilateral tonic-clonic seizure, Infantile spasms, Chorea, Athetosis, Self-injurious behavior, Foc... |
OMIM:617493 |
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness |
|
Small for gestational age, Akinesia, Seizure, Failure to thrive, Generalized tonic seizure |
OMIM:619147 |
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
ST segment elevation, Ventricular tachycardia, Right bundle branch block, Cardiomyopathy, T-wave ... |
ORPHA:263297 |
Bardet-Biedl Syndrome 5 |
|
Obesity |
OMIM:615983 |
Febrile Seizures, Familial, 11 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo... |
OMIM:614418 |
Naxos Disease |
|
Sudden cardiac death, Congestive heart failure, Cardiomyopathy, Paroxysmal ventricular tachycardi... |
ORPHA:34217 |
Chromosome 22Q13 Duplication Syndrome |
|
Short attention span, Bilateral tonic-clonic seizure, Impulsivity, Status epilepticus, Attention ... |
OMIM:615538 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive in infancy, Hyperprolinemia, Pulmo... |
OMIM:619064 |
Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Generalized-onset seizure, Ataxia, Abnormal eating behavior, Tremor, Poor coordination, Obsessive... |
ORPHA:544254 |
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Thick hair, Kyphosis, Synophrys, Low posterior hairline, Seizure, Gait disturbance, Scoliosis, Sp... |
ORPHA:2429 |
Fragile X Tremor/Ataxia Syndrome |
|
Resting tremor, Postural tremor, Parkinsonism, Action tremor, Impaired distal vibration sensation... |
OMIM:300623 |
Acute Interstitial Pneumonia |
|
Crackles, Nonproductive cough, Dyspnea, Tachypnea, Bronchiectasis, Hypoxemia, Respiratory failure... |
ORPHA:79126 |
Obesity And Hypopigmentation |
|
Overgrowth, Polyphagia, Obesity |
OMIM:620195 |
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome |
|
Ataxia, Kyphosis, Synophrys, Seizure, Gait disturbance, Scoliosis, Hypertrichosis |
ORPHA:85317 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Pulmonary arterial hypertension, Failure to thrive, Tachypnea, Lethargy |
OMIM:614857 |
Spermatogenic Failure 80 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... |
OMIM:620222 |
Spermatogenic Failure 40 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... |
OMIM:618664 |
Spermatogenic Failure 76 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... |
OMIM:620084 |
Developmental And Epileptic Encephalopathy 41 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Inability to walk, Focal tonic seizure, Myocloni... |
OMIM:617105 |
Spermatogenic Failure 58 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... |
OMIM:619585 |
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Elevated hepatic transaminase, Abnormal EKG, Prolonged QT interval, Multifocal seizures, Bilatera... |
ORPHA:480864 |
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement |
|
Torticollis, Upper limb postural tremor, Hand tremor, Blepharospasm, Myoclonus, Limb dystonia, Or... |
ORPHA:420485 |
11P15.4 Microduplication Syndrome |
|
Obesity, Aggressive behavior |
ORPHA:300305 |
Combined Oxidative Phosphorylation Deficiency 45 |
|
Tremor, Seizure, Failure to thrive, Ataxia |
OMIM:618951 |
Spermatogenic Failure 54 |
|
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... |
OMIM:619379 |
Avian Influenza |
|
Respiratory distress, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Tachypnea, Pneum... |
ORPHA:454836 |
Myasthenic Syndrome, Congenital, 3C, Associated With Acetylcholine Receptor Deficiency |
|
Increased muscle fatiguability |
OMIM:616323 |
Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Arrhythmia |
OMIM:616949 |
Chromosome 3Q29 Deletion Syndrome |
|
Hyperactivity, Small for gestational age, Aggressive behavior, Gait ataxia, Failure to thrive, Ab... |
OMIM:609425 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Obesity, Impaired social interactions |
ORPHA:329249 |
Autosomal Recessive Myogenic Arthrogryposis Multiplex Congenita |
|
Small for gestational age, Fatiguable weakness of proximal limb muscles, Inability to walk, Crypt... |
ORPHA:319332 |
Typhoid |
|
Hepatomegaly, Ataxia, Epistaxis, Tremor, Splenomegaly, Hypertonia, Cough, Lethargy |
ORPHA:99745 |
Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Short stature, Dental malocclusion |
OMIM:615541 |
Joubert Syndrome |
|
Apnea, Episodic tachypnea, Ataxia, Tremor, Gait disturbance, Oculomotor apraxia, Abnormal pattern... |
ORPHA:475 |
Central Hypoventilation Syndrome, Congenital, 1 |
|
Hypoventilation, Abnormality of temperature regulation, Apnea, Central hypoventilation, Hypercapn... |
OMIM:209880 |
Galactokinase Deficiency |
|
Speech apraxia, Hepatomegaly, Small for gestational age, Neonatal asphyxia, Hepatosplenomegaly, I... |
ORPHA:79237 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Tremor, Babinski sign, Distal sensory impairment, Steppage gait, Hypertonia, Mental deterioration... |
OMIM:609260 |
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Decreased nerve conduction velocity, Arrhythmia, Gait disturbance |
ORPHA:2928 |
Orthostatic Hypotension 1 |
|
Orthostatic hypotension, Atrial fibrillation, Intermittent hypothermia |
OMIM:223360 |
Pseudo-Torch Syndrome 3 |
|
Apnea, Cerebral hemorrhage, Respiratory insufficiency, Hypertension, Recurrent fever |
OMIM:618886 |
Pure Autonomic Failure |
|
Orthostatic hypotension, Syncope, Abnormal autonomic nervous system physiology |
ORPHA:441 |
Spinocerebellar Ataxia With Epilepsy |
|
Bilateral tonic-clonic seizure with focal onset, Progressive neurologic deterioration, Tremor, Dy... |
ORPHA:254881 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Elevated hepatic transaminase, Lethargy, Hyperlipidemia, Failure to thrive |
ORPHA:2089 |
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome |
|
Hernia of the abdominal wall, Obesity |
ORPHA:3055 |
Epilepsy, Familial Adult Myoclonic, 2 |
|
Ataxia, Bilateral tonic-clonic seizure, Dementia, Myoclonus, Cognitive impairment |
OMIM:607876 |
Cardiogenic Shock |
|
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... |
ORPHA:97292 |
Hypertriglyceridemia 1 |
|
Hypertriglyceridemia, Increased VLDL cholesterol concentration |
OMIM:145750 |
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Small for gestational age, Focal-onset seizure, ... |
ORPHA:289266 |
Sarcosinemia |
|
Emotional lability, Bilateral tonic-clonic seizure, Ataxia |
ORPHA:3129 |
Pachygyria With Impaired Intellectual Development, Seizures, And Arachnoid Cysts |
|
Bilateral tonic-clonic seizure, Atypical absence seizure |
OMIM:600176 |
X-Linked Intellectual Disability, Hedera Type |
|
Extrapyramidal muscular rigidity, Inability to walk, Unsteady gait, Slurred speech, Obesity, Dysm... |
ORPHA:93952 |
Biotinidase Deficiency |
|
Lethargy, Tachypnea, Apnea, Ataxia |
OMIM:253260 |
Hypermanganesemia With Dystonia 2 |
|
Generalized dystonia, Dystonia, Progressive neurologic deterioration, Tremor, Inability to walk, ... |
OMIM:617013 |
Mulibrey Nanism |
|
Intrauterine growth retardation, Short stature, Cachexia |
ORPHA:2576 |
Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Failure to thrive, Spastic tetraparesis, Respiratory insufficiency, Opisthotonus, Elevated circul... |
OMIM:605711 |
Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Respiratory insufficiency, Gait disturbance, Cachexia |
ORPHA:157973 |
Spermatogenic Failure 42 |
|
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... |
OMIM:618745 |
Idiopathic Intracranial Hypertension |
|
Lethargy, Abnormal emotion, Obesity, Depression |
ORPHA:238624 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Ataxia, Elevated circulating creatine kinase concent... |
ORPHA:42 |
Holocarboxylase Synthetase Deficiency |
|
Hypertonia, Lethargy, Tachypnea, Hyperventilation |
OMIM:253270 |
Spermatogenic Failure 22 |
|
Male infertility, Non-obstructive azoospermia, Cryptozoospermia |
OMIM:617706 |
2Q23.1 Microdeletion Syndrome |
|
Hyperactivity, Ataxia, Highly arched eyebrow, Cryptorchidism, Synophrys, Paroxysmal bursts of lau... |
ORPHA:228402 |
Bardet-Biedl Syndrome 16 |
|
Respiratory distress, Short stature, Obesity |
OMIM:615993 |
Intellectual Developmental Disorder, Autosomal Recessive 46 |
|
Mandibular prognathia, Ataxia, Large for gestational age, Protruding ear, Widely spaced teeth |
OMIM:616116 |
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Acute hyperammonemia, Apnea, Opisthotonus, Acute hepatic steatosis, Lethargy, Failure to thrive |
OMIM:210200 |
Pontocerebellar Hypoplasia, Type 11 |
|
Broad-based gait, Ataxia, Inability to walk, Poor coordination, Limb ataxia, Seizure, Self-injuri... |
OMIM:617695 |
Beta-Propeller Protein-Associated Neurodegeneration |
|
Dystonia, Parkinsonism, Aggressive behavior, Tremor, Rigidity, Bradykinesia, Seizure, Dementia, S... |
ORPHA:329284 |
Maxillonasal Dysplasia, Binder Type |
|
Dental malocclusion |
OMIM:155050 |
Saccharopinuria |
|
Short stature, Tremor, Spastic diplegia, Distal sensory impairment, Gait ataxia, Seizure, Cogniti... |
ORPHA:3124 |
Developmental And Epileptic Encephalopathy 103 |
|
Epileptic spasm, Hyperactivity, Bilateral tonic-clonic seizure, Ataxia, Tonic seizure, Tonic stat... |
OMIM:619913 |
Spermatogenic Failure 39 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... |
OMIM:618643 |
Pontocerebellar Hypoplasia, Type 16 |
|
Apnea, Spastic tetraplegia, Abnormality of extrapyramidal motor function, Limb hypertonia |
OMIM:619527 |
Creatine Phosphokinase, Elevated Serum |
|
Increased muscle fatiguability |
OMIM:123320 |
Cortisone Reductase Deficiency 2 |
|
Obesity |
OMIM:614662 |
Dihydropyrimidinase Deficiency |
|
Elevated circulating dihydrouracil concentration, Elevated circulating uracil concentration, Abno... |
OMIM:222748 |
D-2-Hydroxyglutaric Aciduria 1 |
|
Apnea, Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Myoclonic seizure, Seizur... |
OMIM:600721 |
Mulibrey Nanism |
|
Short stature, Dental crowding, Absent frontal sinuses, Hypoplastic frontal sinuses, Dental maloc... |
OMIM:253250 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Myocardial infarction, Cerebral hemorrhage, Progressive neurologic deterioration, Congestive hear... |
ORPHA:90065 |
Hyperlipidemia, Familial Combined, 3 |
|
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... |
OMIM:144250 |
Coproporphyria, Hereditary |
|
Hypertension, Tachycardia, Respiratory paralysis |
OMIM:121300 |
Aapoaiv Amyloidosis |
|
Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Cardiac conduction ab... |
ORPHA:439232 |
Cardiomyopathy, Dilated, 1Y |
|
Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact... |
OMIM:611878 |
Lichtenstein-Knorr Syndrome |
|
Ataxia, Limb ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Action tremor |
OMIM:616291 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Speech apraxia, Impaired vibratory sensation, Hepatomegaly, Elevated hepatic transaminase, Failur... |
ORPHA:415 |
Congenital Myopathy 10A, Severe Variant |
|
Respiratory distress, Diaphragmatic paralysis, Respiratory insufficiency, Seizure, Restrictive ve... |
OMIM:614399 |
Hemiparkinsonism-Hemiatrophy Syndrome |
|
Dystonia, Parkinsonism, Tremor, Depression, Bradykinesia, Hemiparesis, Difficulty walking, Scoliosis |
ORPHA:306669 |
Atrial Fibrillation, Familial, 12 |
|
Paroxysmal atrial fibrillation |
OMIM:614050 |
Spermatogenic Failure 47 |
|
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella |
OMIM:619102 |
Cholesteryl Ester Storage Disease |
|
Acute hepatic failure, Decreased HDL cholesterol concentration, Hepatic fibrosis, Hepatic steatos... |
OMIM:278000 |
Intellectual Developmental Disorder, Autosomal Recessive 73 |
|
Impulsivity, Poor coordination, Gait ataxia, Irritability, Scoliosis, Recurrent hand flapping |
OMIM:619717 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Exaggerated startle response, Apnea, Oculogyric crisis, Babinski sign, Limb tremor, ... |
OMIM:608643 |
Smith-Magenis Syndrome |
|
Mandibular prognathia, Everted upper lip vermilion, Hypertriglyceridemia, Abnormality of the dent... |
OMIM:182290 |
Lethal Infantile Mitochondrial Myopathy |
|
Lethargy, Neonatal respiratory distress |
ORPHA:254857 |
Atrial Fibrillation, Familial, 2 |
|
Atrial fibrillation |
OMIM:608988 |
Atrial Fibrillation, Familial, 5 |
|
Atrial fibrillation |
OMIM:611494 |
Atrial Fibrillation, Familial, 1 |
|
Atrial fibrillation |
OMIM:608583 |
Hernández-Aguirre Negrete Syndrome |
|
Obesity, Delayed puberty |
ORPHA:2139 |
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities |
|
Bilateral tonic-clonic seizure, Severe temper tantrums, Obesity, Generalized non-motor (absence) ... |
OMIM:619854 |
Laron Syndrome |
|
Delayed eruption of teeth, Micrognathia, Tooth agenesis, Truncal obesity, Microdontia, Hyperchole... |
ORPHA:633 |
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To |
|
Lethargy, Failure to thrive, Ataxia, Irritability |
OMIM:237300 |
Progressive Nodular Histiocytosis |
|
Cachexia |
ORPHA:158022 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Small for gestational age, Micrognathia, Obesity, Cleft palate, Poor fine motor coordination, Tru... |
ORPHA:96184 |
Intellectual Developmental Disorder, X-Linked 91 |
|
Obesity |
OMIM:300577 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Micrognathia, Respiratory insufficiency due to muscle weakness, Inability to walk, Cryptorchidism... |
OMIM:611890 |
4H Leukodystrophy |
|
Dystonia, Ataxia, Short stature, Tremor, Dysmetria, Seizure, Dysdiadochokinesis, Progressive gait... |
ORPHA:289494 |
Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Respiratory distress, Pulmonary arterial hypertension, Bradycardia |
OMIM:619272 |
Mitochondrial Complex I Deficiency, Nuclear Type 2 |
|
Apnea, Hypercapnia, Respiratory insufficiency, Seizure, Apneic episodes in infancy, Falls, Diffic... |
OMIM:618222 |
Alpers-Huttenlocher Syndrome |
|
Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Choreoathetosis, Myoclonus |
ORPHA:726 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Hepatomegaly, Impaired pain sensation, Tremor, Hepatic bridging fibrosis, Splenomegaly, Limb atax... |
OMIM:616719 |
Epilepsy, Childhood Absence, Susceptibility To, 1 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... |
OMIM:600131 |
Febrile Seizures, Familial, 8 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... |
OMIM:607681 |
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency |
|
Cerebral palsy, Small for gestational age, Oculogyric crisis, Tremor, Rigidity, Bradykinesia, Sei... |
ORPHA:70594 |
Anemia, Sideroblastic, And Spinocerebellar Ataxia |
|
Clonus, Babinski sign, Dysmetria, Dysdiadochokinesis, Nonprogressive cerebellar ataxia, Intention... |
OMIM:301310 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Torticollis, Generalized dystonia, Writer's cramp, Hyperlordosis, Tremor, Inability to walk, Kyph... |
OMIM:128100 |
Spermatogenic Failure 70 |
|
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia |
OMIM:619828 |
Brain-Lung-Thyroid Syndrome |
|
Respiratory distress, Chorea, Abnormal drinking behavior, Choreoathetosis, Compulsive behaviors, ... |
ORPHA:209905 |
Ataxia-Oculomotor Apraxia Type 4 |
|
Somatic sensory dysfunction, Ataxia, Obesity, Dystonia |
ORPHA:459033 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Exaggerated startle response, Apnea, Tremor, Truncal titubation, Dysmetria, Gait ataxia, Hyperton... |
OMIM:618056 |
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia |
|
Decreased motor nerve conduction velocity, Gait disturbance, Abnormal autonomic nervous system ph... |
ORPHA:139578 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Fever, Tachycardia, Heart block, Tachypnea, Capillary leak, Hypoxemia, Respiratory failure, Reduc... |
ORPHA:542323 |
Alternating Hemiplegia Of Childhood |
|
Respiratory distress, Apnea, Anorexia, Oral-pharyngeal dysphagia, Progressive neurologic deterior... |
ORPHA:2131 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Ataxia, Kyphosis, Synophrys, Unsteady gait, Seizure, Scoliosis, Hirsutism |
OMIM:300861 |
Spinocerebellar Ataxia 8 |
|
Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Dysphagia, Spasti... |
OMIM:608768 |
Developmental And Epileptic Encephalopathy 32 |
|
Ataxia, Tremor, Myoclonic seizure, Seizure, Myoclonus, Febrile seizure (within the age range of 3... |
OMIM:616366 |
Hyperlysinuria With Hyperammonemia |
|
Growth delay, Lethargy |
OMIM:238750 |
Carnitine Palmitoyl Transferase 1A Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hemiplegia/hemiparesis, Transient hyperlipidemia, Le... |
ORPHA:156 |
Hepatic Veno-Occlusive Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Increased body weight, Respiratory failure... |
ORPHA:890 |
Benign Samaritan Congenital Myopathy |
|
Abnormal respiratory system physiology, Lethargy, Fasciculations, Narrow mouth |
ORPHA:324581 |
Pelizaeus-Merzbacher Disease |
|
Ataxia, Failure to thrive in infancy, Cachexia, Respiratory insufficiency, Choreoathetosis, Gait ... |
ORPHA:702 |
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures |
|
Hyperactivity, Bilateral tonic-clonic seizure, Aggressive behavior, Seizure, Status epilepticus, ... |
OMIM:620292 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Tachycardia, Malignant hyperthermia, Hypotension |
OMIM:145600 |
X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Ataxia, Impaired pain sensation, Tremor, Kyphosis, Paraparesis, Gait disturbance, Scoliosis |
ORPHA:99014 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Infantile spasms, Inability to walk, Synophrys, Abnormal repetitive mannerisms, Low anterior hair... |
ORPHA:411986 |
Loeffler Endocarditis |
|
Abnormal cardiomyocyte morphology, Endocardial fibrosis, Cough, Abnormal morphology of the chorda... |
ORPHA:75566 |
Developmental And Epileptic Encephalopathy 64 |
|
Paroxysmal dystonia, Highly arched eyebrow, Sparse eyebrow, Inability to walk, Chorea, Low anteri... |
OMIM:618004 |
Scheuermann Disease |
|
Kyphosis, Morbus Scheuermann |
OMIM:181440 |
Dk1-Cdg |
|
Elevated hepatic transaminase, Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seiz... |
ORPHA:91131 |
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome |
|
Seizure, Self-injurious behavior, Hyperkinetic movements, Impaired social interactions, Stereotyp... |
ORPHA:397933 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Ataxia, Elevated circulating creatine kinase concentration, Tremor, Dysmetria, Gait ataxia, Dista... |
OMIM:618387 |
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia |
|
Babinski sign, Disinhibition, Dysphagia, Spasticity, Abnormal repetitive mannerisms |
OMIM:612069 |
Hjv Or Hamp-Related Hemochromatosis |
|
Elevated hepatic transaminase, Increased circulating ferritin concentration, Elevated transferrin... |
ORPHA:79230 |
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Tachycardia |
OMIM:221400 |
Horizontal Gaze Palsy With Progressive Scoliosis |
|
Kyphosis, Seizure, Scoliosis, Short neck |
ORPHA:2744 |
X-Linked Charcot-Marie-Tooth Disease Type 3 |
|
Somatic sensory dysfunction, Tremor, Inability to walk, Restrictive ventilatory defect, Gait dist... |
ORPHA:101077 |
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Infantile spasms... |
OMIM:619428 |
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy |
|
Cachexia |
ORPHA:1216 |
Orofaciodigital Syndrome Xvi |
|
Oculomotor apraxia, Inability to walk, Apnea, Ataxia |
OMIM:617563 |
Neurodegeneration With Brain Iron Accumulation 7 |
|
Lower limb spasticity, Ataxia, Tremor, Dysmetria, Increased circulating very long-chain fatty aci... |
OMIM:617916 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Apneic episodes in infancy, Episodic tachypnea |
ORPHA:163961 |
Gaucher Disease Type 2 |
|
Respiratory distress, Cough, Dysphagia, Dystonia, Generalized myoclonic seizure, Spasticity, Abno... |
ORPHA:77260 |
Thyroid Dyshormonogenesis 1 |
|
Growth delay, Macroglossia, Lethargy |
OMIM:274400 |
Myoclonic-Astatic Epilepsy |
|
Epileptic spasm, Hyperactivity, Bilateral tonic-clonic seizure with generalized onset, Ataxia, Si... |
ORPHA:1942 |
Familial Infantile Myoclonic Epilepsy |
|
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure, Simple feb... |
ORPHA:352582 |
Developmental And Epileptic Encephalopathy 78 |
|
Inability to walk, Hypothermia |
OMIM:618557 |
Isolated Atp Synthase Deficiency |
|
Respiratory distress, Hepatomegaly, Ataxia, Spastic paraplegia, Tetraplegia, Hyperammonemia, Dyst... |
ORPHA:254913 |
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Sinus bradycardia |
OMIM:126320 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Prolonged QT interval, Bidirectional ventricular ectopy, Syncope, Palpitations, Prominent U wave,... |
OMIM:170390 |
Ankylosing Vertebral Hyperostosis With Tylosis |
|
Obesity |
ORPHA:2206 |
Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Tremor, Ataxia, Dysphagia |
OMIM:618637 |
Bardet-Biedl Syndrome 22 |
|
Polyphagia, Obesity, Large for gestational age |
OMIM:617119 |
Developmental And Epileptic Encephalopathy 66 |
|
Broad-based gait, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset... |
OMIM:618067 |
Developmental And Epileptic Encephalopathy 93 |
|
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Clonic seizure, Focal-onset seiz... |
OMIM:618012 |
Pseudo-Torch Syndrome 2 |
|
Acute respiratory distress syndrome, Cerebral hemorrhage, Respiratory insufficiency, Bradycardia,... |
OMIM:617397 |
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Atrial fibrillation, Prolonged PR interval |
OMIM:108900 |
Cubitus Valgus With Impaired Intellectual Development And Unusual Facies |
|
Truncal obesity |
OMIM:300471 |
Holt-Oram Syndrome |
|
Paroxysmal atrial fibrillation, Atrioventricular block, First degree atrioventricular block |
ORPHA:392 |
Neuroectodermal Melanolysosomal Disease |
|
Hypopigmentation of hair, Ataxia, Tremor, Rigidity, Premature graying of hair, Seizure, Hypertoni... |
ORPHA:33445 |
Myotonia Fluctuans |
|
Stridor, Apnea, Spasticity of facial muscles, Gait disturbance |
ORPHA:99734 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Hyperactivity, Cerebral palsy, Highly arched eyebrow, Cryptorchidism, Kyphosis, Repetitive compul... |
ORPHA:352490 |
Dpagt1-Cdg |
|
Epileptic spasm, Ataxia, Akinesia, Aggressive behavior, Tremor, Inability to walk, Focal motor se... |
ORPHA:86309 |
Spermatogenic Failure 79 |
|
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia |
OMIM:620196 |
Corticosteroid-Binding Globulin Deficiency |
|
Increased muscle fatiguability |
OMIM:611489 |
Spermatogenic Failure 55 |
|
Male infertility, Reduced sperm motility |
OMIM:619380 |
Spermatogenic Failure 3 |
|
Male infertility, Reduced sperm motility |
OMIM:606766 |
Spermatogenic Failure, Y-Linked, 1 |
|
Male infertility, Reduced sperm motility |
OMIM:400042 |
Idiopathic/Heritable Pulmonary Arterial Hypertension |
|
Tricuspid regurgitation, Abnormal cardiovascular system physiology, Heart murmur, Syncope, Palpit... |
ORPHA:422 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Hypertriglyceridemia, Hepatosplenomegaly |
OMIM:608898 |
Spermatogenic Failure 7 |
|
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia |
OMIM:612997 |
Otodental Dysplasia |
|
Delayed eruption of teeth, Agenesis of premolar, Sensorineural hearing impairment, Tooth ankylosi... |
OMIM:166750 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
OMIM:600649 |
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant |
|
Cardiomyopathy, Arrhythmia |
OMIM:612999 |
Classic Phenylketonuria |
|
Hypopigmentation of hair, Tremor, Paraplegia, Depression, Growth delay, Seizure, Self-injurious b... |
ORPHA:79254 |
Joubert Syndrome With Oculorenal Defect |
|
Tachypnea, Apnea, Ataxia |
ORPHA:2318 |
Carnitine Palmitoyltransferase I Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
OMIM:255120 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Myocarditis, Atrioventricular block, Cardiorespiratory arrest, Respiratory insufficiency, Arrhythmia |
ORPHA:93317 |
Spermatogenic Failure 10 |
|
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia |
OMIM:614822 |
Spermatogenic Failure 11 |
|
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia |
OMIM:615081 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vii |
|
Abnormal autonomic nervous system physiology |
OMIM:615548 |
Male Infertility Due To Acephalic Spermatozoa |
|
Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re... |
ORPHA:529970 |
Congenital Enterovirus Infection |
|
Respiratory distress, Fever, Hypothermia, Myocarditis, Cardiomyopathy, Hypotension, Pleural effusion |
ORPHA:292 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Cardiomyopathy, Arrhythmia, Bradycardia |
OMIM:609286 |
Morm Syndrome |
|
Truncal obesity, Hyperactivity, Aggressive behavior |
ORPHA:75858 |
Microcephaly 16, Primary, Autosomal Recessive |
|
Micrognathia, Cryptorchidism, Spastic tetraplegia, Decreased body weight, Spasticity, Open mouth |
OMIM:616681 |
Dystonia 7, Torsion |
|
Torticollis, Writer's cramp, Torsion dystonia, Hand tremor, Clumsiness, Blepharospasm, Oromandibu... |
OMIM:602124 |
Dentinogenesis Imperfecta |
|
Generalized hypoplasia of dental enamel, Odontodysplasia, Pulp obliteration, Selective tooth agen... |
ORPHA:49042 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Large for gestational age |
OMIM:256450 |
Hypokalemic Periodic Paralysis |
|
Periodic hypokalemic paresis, Respiratory paralysis, Exercise-induced muscle fatigue, Paralysis |
ORPHA:681 |
Spermatogenic Failure 63 |
|
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia |
OMIM:619689 |
Spastic Paraplegia 11, Autosomal Recessive |
|
Lower limb spasticity, Ataxia, Babinski sign, Spastic paraplegia, Obesity, Impaired vibration sen... |
OMIM:604360 |
Xq27.3Q28 Duplication Syndrome |
|
Truncal obesity, Failure to thrive, Short stature, Intrauterine growth retardation |
ORPHA:261483 |
Glutaric Acidemia Type 3 |
|
Lethargy, Failure to thrive, Impulsivity |
ORPHA:35706 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Kyphosis, Difficulty walking, Scoliosis, Distal sensory impairment |
OMIM:617087 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Prolonged QT interval, Tachycardia, Atrial fibrillation, Recurrent pneumonia, Bradycardia |
OMIM:613327 |
Coenzyme Q10 Deficiency, Primary, 2 |
|
Overweight, Pulmonary arterial hypertension, Bulimia, Obesity |
OMIM:614651 |
Spermatogenic Failure 41 |
|
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella |
OMIM:618670 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Wolff-Parkinson-White syndrome, First degree atrioventricular block, Heart block, Ventricular tac... |
ORPHA:216694 |
Intellectual Developmental Disorder, Autosomal Dominant 7 |
|
Hyperactivity, Incoordination, Ataxia, Seizure, Gait disturbance, Inappropriate laughter, Febrile... |
OMIM:614104 |
Hepatic Lipase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration |
OMIM:614025 |
Proliferating Trichilemmal Cyst |
|
Sparse scalp hair, Skin ulcer |
ORPHA:492 |
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development |
|
Premature ovarian insufficiency, Ataxia, Impaired pain sensation, High, narrow palate, Unsteady g... |
OMIM:618124 |
Mahvash Disease |
|
Palpitations |
OMIM:619290 |
Cardiac Diverticulum |
|
Abnormal EKG, Mitral stenosis, Angina pectoris, Tricuspid stenosis, Congestive heart failure, Ven... |
ORPHA:1686 |
Polymyositis |
|
Gastrointestinal hemorrhage, Fever, Pericarditis, Abnormal atrioventricular conduction, Myocardia... |
ORPHA:732 |
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome |
|
Short stature, Micrognathia, Diastema, Dental malocclusion, Malar flattening |
ORPHA:436245 |
Cardiomyopathy, Dilated, 1I |
|
Reduced systolic function, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Reduce... |
OMIM:604765 |
Spinocerebellar Ataxia, Autosomal Recessive 31 |
|
Ataxia, Tremor, Bruxism, Dysphagia, Choreoathetosis, Seizure, Lumbar kyphoscoliosis, Dystonia, Se... |
OMIM:619422 |
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Waddling gait, Lower limb spasticity, Dystonia, Bilateral tonic-clonic seizure, Ataxia, Kyphosis,... |
ORPHA:464282 |
Ataxia-Telangiectasia |
|
Hypopigmentation of hair, Ataxia, Short stature, Tremor, Premature graying of hair, Seizure, Gait... |
ORPHA:100 |
Dyskinesia With Orofacial Involvement, Autosomal Dominant |
|
Resting tremor, Involuntary movements, Chorea, Paroxysmal dyskinesia, Choreoathetosis, Myoclonus,... |
OMIM:606703 |
Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Irritability, Failure to thrive, Bilateral tonic-clonic seizure |
OMIM:618237 |
Isolated Right Ventricular Hypoplasia |
|
Tricuspid regurgitation, Abnormal atrioventricular conduction, Right ventricular failure, Dyspnea... |
ORPHA:439 |
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Seizure, Apnea, Infantile spasms |
OMIM:619797 |
Carnitine Deficiency, Systemic Primary |
|
Respiratory distress, Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated ... |
OMIM:212140 |
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency |
|
Exercise-induced muscle fatigue |
ORPHA:2364 |
Immunodeficiency 109 With Lymphoproliferation |
|
Splenomegaly, Hypertriglyceridemia, Bronchiectasis, Recurrent sinusitis |
OMIM:620282 |
Hemochromatosis, Type 2A |
|
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Increased serum iron, C... |
OMIM:602390 |
Xp21 Deletion Syndrome |
|
Increased muscle fatiguability, Spasticity, Growth delay, Confusion |
ORPHA:261476 |
Kallmann Syndrome With Spastic Paraplegia |
|
Eunuchoid habitus, Hypothalamic gonadotropin-releasing hormone deficiency, Ataxia, Hypogonadotrop... |
OMIM:308750 |
Shukla-Vernon Syndrome |
|
Broad-based gait, Impulsivity, Aggressive behavior, Seizure, Attention deficit hyperactivity diso... |
OMIM:301029 |
Infantile Dystonia-Parkinsonism |
|
Oculogyric crisis, Chorea, Bradykinesia, Irritability, Dystonia, Hypokinesia |
ORPHA:238455 |
Acitretin/Etretinate Embryopathy |
|
Third degree atrioventricular block, Bradycardia |
ORPHA:40366 |
Leptin Deficiency Or Dysfunction |
|
Recurrent pneumonia, Polyphagia, Obesity |
OMIM:614962 |
Intellectual Developmental Disorder, X-Linked 30 |
|
Short attention span, Hyperactivity, Restlessness, Bilateral tonic-clonic seizure, Aggressive beh... |
OMIM:300558 |
Lipase Deficiency, Combined |
|
Hypertriglyceridemia, Pancreatitis |
OMIM:246650 |
Crigler-Najjar Syndrome Type 1 |
|
Tremor, Biliary tract abnormality, Abnormality of the liver, Unconjugated hyperbilirubinemia, Pro... |
ORPHA:79234 |
Leukodystrophy, Hypomyelinating, 11 |
|
Ataxia, Tremor, Myoclonus, Spasticity, Failure to thrive |
OMIM:616494 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Hepatomegaly, Ataxia, Tremor, Splenomegaly, Hypogeusia, Decreased serum zinc, Lethargy, Failure t... |
OMIM:201100 |
Congenital Myopathy 19 |
|
Posteriorly rotated ears, Micrognathia, Respiratory insufficiency due to muscle weakness, Cryptor... |
OMIM:618578 |
Pure Mitochondrial Myopathy |
|
Loss of ambulation, Waddling gait, Exercise-induced muscle fatigue |
ORPHA:254854 |
Intellectual Developmental Disorder, X-Linked, Syndromic 12 |
|
Mandibular prognathia, Postnatal growth retardation, Thick lower lip vermilion, Wide mouth, Thick... |
OMIM:309545 |
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies |
|
Ataxia, Tremor, Inability to walk, Seizure, Hypertonia, Attention deficit hyperactivity disorder,... |
OMIM:619556 |
Hypermanganesemia With Dystonia 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Hypermanganesemia, Dystonia, Parkinsonism, Tremor, R... |
OMIM:613280 |
Christianson Syndrome |
|
Generalized-onset seizure, Dystonia, Dysphagia, Gait ataxia, Inappropriate laughter, Truncal atax... |
ORPHA:85278 |
Familial Dyskinesia And Facial Myokymia |
|
Resting tremor, Chorea, Myoclonus, Difficulty walking, Dystonia, Limb hypertonia |
ORPHA:324588 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Fever, Tachycardia, Exertional dyspnea |
ORPHA:90036 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Obesity, Growth delay, Delayed puberty, Failure to thrive, Polyphagia, Childhood-onset truncal ob... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Obesity, Growth delay, Delayed puberty, Failure to thrive, Polyphagia, Childhood-onset truncal ob... |
ORPHA:71526 |
Crigler-Najjar Syndrome |
|
Memory impairment, Lethargy, Cognitive impairment |
ORPHA:205 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Hypertension, Arrhythmia, Cardiomyopathy |
ORPHA:3222 |
Brain Dopamine-Serotonin Vesicular Transport Disease |
|
Dystonia, Ataxia, Parkinsonism, Abnormality of coordination, Spastic tetraparesis, Tremor, Oculog... |
ORPHA:352649 |
Pontocerebellar Hypoplasia, Type 14 |
|
Focal-onset seizure, Bilateral tonic-clonic seizure, Infantile spasms, Myoclonic seizure |
OMIM:619301 |
Spinocerebellar Ataxia 50 |
|
Postural tremor, Ataxia, Chorea, Myoclonus, Head tremor, Apraxia, Action tremor |
OMIM:620158 |
Parkinson Disease 14, Autosomal Recessive |
|
Tremor, Hand tremor, Loss of ambulation, Eyelid apraxia, Parkinsonism, Depression, Clumsiness, Up... |
OMIM:612953 |
Spinocerebellar Ataxia 15 |
|
Postural tremor, Limb ataxia, Gait ataxia, Truncal ataxia, Action tremor |
OMIM:606658 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Ataxia... |
OMIM:267700 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Hyperactivity, Broad-based gait, Ataxia, Obesity, Inappropriate laughter, Polyphagia |
ORPHA:411515 |
Kearns-Sayre Syndrome |
|
Cardiomyopathy, Arrhythmia, Third degree atrioventricular block |
OMIM:530000 |
Serotonin Syndrome |
|
Restlessness, Confusion, Tachypnea, Irritability, Seizure, Agitation, Myoclonus, Mental deteriora... |
ORPHA:43116 |
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures |
|
Obesity, Attention deficit hyperactivity disorder |
OMIM:618725 |
Developmental And Epileptic Encephalopathy 1 |
|
Dystonia, Infantile spasms, Tonic seizure, Spastic tetraparesis, Focal-onset seizure, Dyspnea, Ab... |
OMIM:308350 |
Encephalitis Lethargica |
|
Fever, Bradycardia, Hyperventilation |
ORPHA:83600 |
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome |
|
Spastic ataxia, Impaired distal proprioception, Tremor, Unsteady gait, Impaired vibration sensati... |
ORPHA:137898 |
Developmental And Epileptic Encephalopathy 23 |
|
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Focal impaired awareness seizure... |
OMIM:615859 |
Sandhoff Disease |
|
Kyphosis, Seizure, Ataxia |
ORPHA:796 |
Sepsis In Premature Infants |
|
Fever, Tachycardia, Abnormal mucociliary clearance, Dyspnea, Nasal flaring, Abnormal respiratory ... |
ORPHA:90051 |
Multicentric Reticulohistiocytosis |
|
Cachexia |
ORPHA:139436 |
Lecithin:Cholesterol Acyltransferase Deficiency |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:245900 |
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome |
|
Cryptorchidism, Increased body weight, Hand tremor, Thin vermilion border, Gait disturbance, Long... |
ORPHA:589905 |
Mental Retardation, Keratoconus, Febrile Seizures, And Sinoatrial Block |
|
Sinoatrial block, Abnormal electrophysiology of sinoatrial node origin |
OMIM:609438 |
Amelogenesis Imperfecta, Type Ia |
|
Dental enamel pits, Taurodontia, Generalized microdontia, Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:104530 |
Combined Oxidative Phosphorylation Deficiency 38 |
|
Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, Respiratory insufficiency |
OMIM:618378 |
Autosomal Spastic Paraplegia Type 58 |
|
Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Unst... |
ORPHA:397946 |
Laurence-Moon Syndrome |
|
Low-set, posteriorly rotated ears, Hypoplasia of penis, Ataxia, Cryptorchidism, Sensorineural hea... |
ORPHA:2377 |
Peroxisome Biogenesis Disorder 11A (Zellweger) |
|
Failure to thrive, Apnea |
OMIM:614883 |
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy |
|
Generalized-onset seizure, Apnea, Febrile status epilepticus, Tonic seizure, Seizure, Status epil... |
OMIM:612949 |
Three M Syndrome 2 |
|
Delayed eruption of teeth, Severe short stature, Short stature, Small for gestational age, Dental... |
OMIM:612921 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, J... |
OMIM:603552 |
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency |
|
Mandibular prognathia, High palate, Dental malocclusion |
OMIM:608931 |
Monomelic Amyotrophy |
|
Tremor, Fasciculations |
ORPHA:65684 |
Microduplication Xp11.22P11.23 Syndrome |
|
Obesity |
ORPHA:217377 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Congestive heart failure, Tachycardia, Exertional dyspnea |
ORPHA:90037 |
Spermatogenic Failure 78 |
|
Male infertility, Microcephalic sperm head, Tapered sperm head |
OMIM:620170 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2 |
|
Right bundle branch block |
OMIM:613158 |
Spermatogenic Failure, X-Linked, 6 |
|
Male infertility, Coiled sperm flagella, Reduced sperm motility, Absent sperm axoneme central pai... |
OMIM:301101 |
Atrophoderma Vermiculata |
|
Heart block |
ORPHA:79100 |
Progressive Supranuclear Palsy |
|
Dystonia, Impulsivity, Tremor, Rigidity, Unsteady gait, Depression, Bradykinesia, Blepharospasm, ... |
ORPHA:683 |
Intellectual Developmental Disorder, Autosomal Recessive 41 |
|
Hepatomegaly, Generalized-onset seizure, Bilateral tonic-clonic seizure, Splenomegaly, Recurrent ... |
OMIM:615637 |
Intellectual Developmental Disorder, Autosomal Dominant 5 |
|
Seizure, Bilateral tonic-clonic seizure, Myoclonic absence seizure |
OMIM:612621 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hepatomegaly, Bilateral tonic-clonic seizure with focal onset, Hypersplenism, Clonic seizure, Spl... |
OMIM:610539 |
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive |
|
Right axis deviation, Elevated jugular venous pressure, Congestive heart failure, Dilated cardiom... |
OMIM:255160 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Bilateral tonic-clonic seizure, Tremor, Self-mutilation, Depression, Seizure, Hyperkinetic moveme... |
ORPHA:457240 |
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome |
|
Cachexia |
ORPHA:1144 |
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Hypoventilation, Apnea, Sinus bradycardia, Hypopnea, Restrictive ventilatory defect, Aspiration p... |
OMIM:619482 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Increased serum pyruvate, Hepatomegaly, Respiratory distress, High palate, Limb dystonia, Letharg... |
OMIM:604377 |
Congenital Myopathy 12 |
|
Small for gestational age, Akinesia |
OMIM:612540 |
Intellectual Developmental Disorder, X-Linked 12 |
|
Increased body mass index, Small for gestational age, Tremor, Cryptorchidism, Sensorineural heari... |
OMIM:300957 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant |
|
Waddling gait, Lower limb spasticity, Broad-based gait, Hyperlordosis, Kyphosis, Babinski sign, S... |
OMIM:615290 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Pulmonary arterial hypertension, Second degree atrioventricular block, Hypertension, Respiratory ... |
OMIM:617021 |
Beta-Ketothiolase Deficiency |
|
Ataxia, Tachypnea, Weight loss, Extrapyramidal dyskinesia, Cough, Spasticity |
ORPHA:134 |
Rett Syndrome, Congenital Variant |
|
Dystonia, Kyphosis, Chorea, Tongue thrusting, Bruxism, Seizure, Athetosis, Irritability, Impaired... |
OMIM:613454 |
Isochromosomy Yp |
|
Male infertility, Azoospermia, Decreased testicular size |
ORPHA:98797 |
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome |
|
Broad-based gait, Tremor, Babinski sign, Spastic paraplegia, Seizure, Difficulty walking, Febrile... |
ORPHA:477673 |
Myasthenic Syndrome, Congenital, 20, Presynaptic |
|
Hypoventilation, Apnea, Stridor, Fatigable weakness, Dysphagia |
OMIM:617143 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 5 |
|
Broad-based gait, Ataxia, Mildly reduced left ventricular ejection fraction, Dysmetria, Arrhythmia |
OMIM:618098 |
Parkinsonism With Polyneuropathy |
|
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk... |
OMIM:619279 |
Spermatogenic Failure 1 |
|
Male infertility, Cryptozoospermia, Oligozoospermia |
OMIM:258150 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Tachycardia, Palpitations |
OMIM:188580 |
Intellectual Developmental Disorder With Seizures And Language Delay |
|
Bilateral tonic-clonic seizure, Myoclonic absence seizure, Myoclonic seizure |
OMIM:619000 |
Chylomicron Retention Disease |
|
Elevated hepatic transaminase, Hepatic steatosis, Hypertriglyceridemia, Impaired proprioception, ... |
ORPHA:71 |
Xq28 (MECP2) duplication |
|
Inability to walk, Gait ataxia, Depression, Seizure, Progressive spasticity, Dysphagia, Abnormal ... |
DECIPHER:45 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
Mandibular prognathia, Short stature, Open bite, Abnormality of dental eruption, Dental malocclus... |
ORPHA:1327 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Fever, Apnea, Cardiac conduction abnormality, Hypothermia, Dyspnea, Episodic respiratory distress... |
ORPHA:255210 |
Urocanic Aciduria |
|
Broad-based gait, Ataxia, Gait ataxia, Truncal ataxia, Action tremor |
ORPHA:210128 |
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Male infertility, Abnormal sperm morphology, Immotile sperm |
OMIM:608653 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Eunuchoid habitus, Hypothalamic gonadotropin-releasing hormone deficiency, Small scrotum, Ataxia,... |
OMIM:308700 |
Arthrogryposis Multiplex Congenita 6 |
|
Akinesia |
OMIM:619334 |
Congenital-Onset Steinert Myotonic Dystrophy |
|
Bundle branch block, Neonatal respiratory distress, First degree atrioventricular block |
ORPHA:589821 |
Analbuminemia |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypoalbuminemia, Elevated circulat... |
OMIM:616000 |
Muscular Dystrophy, Duchenne Type |
|
Hypoventilation, Abnormal EKG, Respiratory insufficiency due to muscle weakness, Congestive heart... |
OMIM:310200 |
Neuroferritinopathy |
|
Resting tremor, Dystonia, Writer's cramp, Parkinsonism, Involuntary movements, Chorea, Babinski s... |
ORPHA:157846 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hepatomegaly, Large for gestational age, Decreased circulating free fatty acid level, Diffuse pan... |
ORPHA:276556 |
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Wolff-Parkinson-White syndrome, Congestive heart failure, Abnormal left ventricular function, Hyp... |
OMIM:540000 |
Citrullinemia, Type Ii, Adult-Onset |
|
Hypertriglyceridemia, Portal inflammation, Elevated circulating alanine aminotransferase concentr... |
OMIM:603471 |
Pick Disease Of Brain |
|
Abnormal repetitive mannerisms, Irritability, Disinhibition, Inappropriate laughter, Emotional bl... |
OMIM:172700 |
Parkinson Disease 21 |
|
Tremor, Rigidity, Parkinsonism, Bradykinesia |
OMIM:616361 |
Craniosynostosis 3 |
|
Dental malocclusion |
OMIM:615314 |
Alpha-Mannosidosis |
|
Mandibular prognathia, Craniofacial hyperostosis, Open bite, Dental malocclusion, Gingival overgr... |
ORPHA:61 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Large for gestational age, Tremor, Abnormal circulat... |
ORPHA:263455 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Lethargy, Bradycardia, Hypothermia |
ORPHA:90673 |
Spinocerebellar Ataxia Type 10 |
|
Lower limb spasticity, Generalized-onset seizure, Kinetic tremor, Aggressive behavior, Unsteady g... |
ORPHA:98761 |
Spermatogenic Failure 36 |
|
Male infertility, Abnormal sperm morphology |
OMIM:618420 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Orthostatic hypotension, Ataxia, Abnormal auditory evoked potentials, Hypothermia, Dysmetria, Gai... |
ORPHA:99027 |
Spinocerebellar Ataxia, Autosomal Recessive 30 |
|
Ataxia, Tremor, Unsteady gait, Dysmetria, Titubation, Compulsive behaviors |
OMIM:619405 |
Diencephalic Syndrome |
|
Cachexia, Decreased body weight |
ORPHA:1672 |
Smith-Magenis Syndrome |
|
Mandibular prognathia, Hypertriglyceridemia, Tented upper lip vermilion, Failure to thrive in inf... |
ORPHA:819 |
Coach Syndrome 2 |
|
Hypertension, Apneic episodes in infancy |
OMIM:619111 |
Glut1 Deficiency Syndrome 2 |
|
Ataxia, Tremor, Choreoathetosis, Seizure, Irritability, Dystonia |
OMIM:612126 |
Cardiocranial Syndrome, Pfeiffer Type |
|
Torticollis, Episodic tachypnea |
ORPHA:2872 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hepatomegaly, Large for gestational age, Decreased circulating free fatty acid level, Diffuse pan... |
ORPHA:276575 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Elevated hepatic transaminase, Small for gestational age, Elevated circulating aspartate aminotra... |
OMIM:609015 |
Gitelman Syndrome |
|
Prolonged QT interval, Ventricular tachycardia, Palpitations, Hypotension, Recurrent fever |
OMIM:263800 |
Deafness-Infertility Syndrome |
|
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... |
OMIM:611102 |
Spinocerebellar Ataxia Type 1 |
|
Dystonia, Postural tremor, Chorea, Impaired proprioception, Slurred speech, Dysmetria, Bradykines... |
ORPHA:98755 |
Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
|
Ataxia, Short stature, Poor motor coordination, Tremor, Progressive psychomotor deterioration, Dy... |
ORPHA:1170 |
Succinic Acidemia |
|
Respiratory distress |
OMIM:600335 |
Sporadic Infantile Bilateral Striatal Necrosis |
|
Short attention span, Resting tremor, Dystonia, Parkinsonism, Focal-onset seizure, Chorea, Babins... |
ORPHA:225147 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Fever, Apnea, Cardiac arrest, Hypothermia, Dilated cardiomyopathy, Tachypnea, Hypotension |
ORPHA:20 |
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures |
|
Bilateral tonic-clonic seizure, Chorea, Seizure, Focal impaired awareness seizure, Status epilept... |
OMIM:613970 |
Flynn-Aird Syndrome |
|
Ataxia, Cachexia, Impaired pain sensation, Abnormality of the thyroid gland, Carious teeth, Prima... |
ORPHA:2047 |
Myopathy, X-Linked, With Postural Muscle Atrophy |
|
Hypertrophic cardiomyopathy, Arrhythmia |
OMIM:300696 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:619662 |
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
Elevated hepatic transaminase, Thin upper lip vermilion, Hepatomegaly, Respiratory distress, Elev... |
ORPHA:329178 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hepatomegaly, Small for gestational age, Large for gestational age, Decreased circulating free fa... |
ORPHA:324575 |
Maternally-Inherited Diabetes And Deafness |
|
Hypertension, Hypertrophic cardiomyopathy, Congestive heart failure, Arrhythmia |
ORPHA:225 |
X-Linked Parkinsonism-Spasticity Syndrome |
|
Resting tremor, Babinski sign, Scissor gait, Cogwheel rigidity, Bradykinesia, Ankle clonus, Spast... |
ORPHA:363654 |
Brunet-Wagner Neurodevelopmental Syndrome |
|
Low anterior hairline, Myoclonic seizure, Self-injurious behavior, Thin eyebrow, Abnormal repetit... |
OMIM:619690 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Kinetic tremor, Small for gestational age, Micrognathia, Cryptorchidism, Narrow mouth, Sensorineu... |
OMIM:616817 |
Myoclonic Epilepsy Of Lafora |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Progressive neur... |
OMIM:254780 |
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome |
|
Ataxia, Bilateral tonic-clonic seizure, Dysmetria, Dysdiadochokinesis, Myoclonus, Dysphagia, Gene... |
ORPHA:313772 |
Exercise-Induced Malignant Hyperthermia |
|
Prolonged QT interval, Crackles, Tachypnea, Malignant hyperthermia, ST segment depression, Hypote... |
ORPHA:466650 |
Fabry Disease |
|
Conjunctival telangiectasia, Bundle branch block, Fever, Angina pectoris, Transient ischemic atta... |
ORPHA:324 |
Hypercalcemia, Infantile, 1 |
|
Lethargy, Failure to thrive, Weight loss |
OMIM:143880 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Hepatosplenomeg... |
OMIM:613101 |
Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Incoordination, Ataxia, Short stature, Tremor, Unsteady gait, Limb ataxia, Dysmetria, Gait ataxia... |
OMIM:213200 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Cardiac arrest, Ventricular tachycardia, Torsade de pointes, Hypertrophic cardiomyopathy, Prolong... |
OMIM:616878 |
Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Ataxia, Short stature, Tremor, Inability to walk, Abnormal pyramidal sign, Dysmetria, Gait ataxia... |
OMIM:614831 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Pulmonary arterial hypertension, Tachypnea, Small for gestational age |
OMIM:613320 |
Biotinidase Deficiency |
|
Respiratory distress, Apnea, Bilateral tonic-clonic seizure, Infantile spasms, Ataxia, Focal moto... |
ORPHA:79241 |
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities |
|
Abnormal EKG, Pulmonic stenosis |
OMIM:178650 |
Hyperglycinemia, Lactic Acidosis, And Seizures |
|
Spastic tetraplegia, Apnea, Myoclonus, Respiratory insufficiency |
OMIM:614462 |
Odontotrichoungual-Digital-Palmar Syndrome |
|
Mandibular prognathia, Natal tooth, Thick vermilion border, Dental malocclusion |
OMIM:601957 |
Dentatorubral Pallidoluysian Atrophy |
|
Ataxia, Involuntary movements, Blepharospasm, Dyssynergia, Impaired proprioception, Oromandibular... |
ORPHA:101 |
Pontocerebellar Hypoplasia, Type 15 |
|
Focal-onset seizure, Bilateral tonic-clonic seizure, Infantile spasms, Myoclonic seizure |
OMIM:619302 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Elevated hepatic transaminase, Hypertriglyceridemia, Hepatosplenomegaly, Restrictive ventilatory ... |
OMIM:619013 |
Spinocerebellar Ataxia, Autosomal Recessive 7 |
|
Impaired vibratory sensation, Ataxia, Postural tremor, Truncal titubation, Babinski sign, Dysmetr... |
OMIM:609270 |
Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Obesity, Polyphagia, Self-mutilation, Aggressive behavior |
OMIM:616521 |
Intellectual Disability And Myopathy Syndrome |
|
Widely-spaced maxillary central incisors, Thin upper lip vermilion, Dental malocclusion, Incisor ... |
OMIM:619719 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Hypertriglyceridemia, Hepatitis, Cholestasis, Obesity, Increased LDL cholesterol concentration, A... |
ORPHA:209902 |
Obesity-Hypoventilation Syndrome |
|
Hypoventilation, Obesity |
OMIM:257500 |
Spermatogenic Failure 5 |
|
Male infertility, Multiflagellar spermatozoa, Macrozoospermia |
OMIM:243060 |
Spinocerebellar Ataxia 2 |
|
Impaired vibratory sensation, Ataxia, Parkinsonism, Postural tremor, Rigidity, Unsteady gait, Bab... |
OMIM:183090 |
Lethal Congenital Contracture Syndrome 2 |
|
Akinesia |
OMIM:607598 |
Leptin Receptor Deficiency |
|
Short stature, Abnormal eating behavior, Aggressive behavior, Obesity, Delayed puberty, Polyphagia |
OMIM:614963 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Nonproductive cough, Dyspnea, Chronic pulmonary obstruction, Wheezing, Bronchiectasis, Inspirator... |
ORPHA:79127 |
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Neonatal respiratory distress, Respiratory failure, Hypothermia, Respiratory insufficiency |
OMIM:245400 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Fever, Congestive heart failure, Tachycardia, Exertional dyspnea |
ORPHA:90033 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Large for gestational age |
OMIM:601820 |
Autosomal Recessive Spastic Paraplegia Type 77 |
|
Lower limb spasticity, Sudden episodic apnea, Weakness due to upper motor neuron dysfunction, Pro... |
ORPHA:466722 |
Spermatogenic Failure 21 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617644 |
Masa Syndrome |
|
Lower limb spasticity, Hyperlordosis, Kyphosis, Spastic paraplegia, Paraplegia, Shuffling gait |
OMIM:303350 |
Cataract-Ataxia-Deafness Syndrome |
|
Tremor, Hypertonia, Ataxia |
ORPHA:1368 |
Spermatogenic Failure 44 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:619044 |
Intestinal Dysmotility Syndrome |
|
Failure to thrive, High palate, Broad philtrum, Weight loss |
OMIM:620045 |
Spermatogenic Failure 16 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617187 |
Neuroleptic Malignant Syndrome |
|
Fever, Tachycardia, Hypothermia, Pulmonary embolism, Hypertension, Bradycardia, Hypotension, Abno... |
ORPHA:94093 |
Moynahan Syndrome |
|
Cachexia |
ORPHA:2574 |
Mitochondrial Membrane Protein-Associated Neurodegeneration |
|
Dystonia, Parkinsonism, Rigidity, Babinski sign, Hand tremor, Respiratory insufficiency, Bradykin... |
ORPHA:289560 |
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes |
|
Abnormal EKG, Somatic sensory dysfunction, Cardiomyopathy, Progressive gait ataxia, Progressive c... |
ORPHA:1177 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Delayed eruption of teeth, Short stature, Dental crowding, Micrognathia, Hypoplasia of the maxill... |
OMIM:257850 |
Congenital Disorder Of Glycosylation, Type Im |
|
Aspiration, Dilated cardiomyopathy, Bradycardia |
OMIM:610768 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh |
|
Kyphoscoliosis, Impaired temperature sensation, Tremor, Impaired pain sensation, Impaired distal ... |
OMIM:619574 |
Aicardi-Goutieres Syndrome 6 |
|
Rigidity, Tremor, Irritability, Dystonia, Loss of ambulation, Intrauterine growth retardation |
OMIM:615010 |
Spinocerebellar Ataxia Type 32 |
|
Cerebellar atrophy, Azoospermia, Testicular atrophy, Male infertility |
ORPHA:276183 |
Fetal Akinesia Deformation Sequence |
|
Hypokinesia, Akinesia |
ORPHA:994 |
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia |
|
Impaired vibratory sensation, Broad-based gait, Postural tremor, Babinski sign, Limb ataxia, Dysm... |
ORPHA:284324 |
Mitochondrial Complex I Deficiency, Nuclear Type 29 |
|
Increased muscle fatiguability, Failure to thrive |
OMIM:618250 |
6Q16 Microdeletion Syndrome |
|
Broad-based gait, Micrognathia, Poor coordination, Obesity, Microtia, Low-set ears, Retrognathia |
ORPHA:171829 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypercholesterolemia, Hyperammonemia, Increased C-peptide level |
OMIM:620211 |
Thyrotoxic Periodic Paralysis |
|
Prolonged QT interval, Shortened PR interval, Impaired myocardial contractility, Second degree at... |
ORPHA:79102 |
Low Phospholipid-Associated Cholelithiasis |
|
Elevated hepatic transaminase, Liver abscess, Cholangitis, Overweight, Intrahepatic cholestasis, ... |
ORPHA:69663 |
Acrootoocular Syndrome |
|
Delayed eruption of teeth, Short stature, Small for gestational age, Micrognathia, Grayish enamel... |
ORPHA:2980 |
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Seizure, Akinesia |
OMIM:225790 |
Fabry Disease |
|
Angina pectoris, Transient ischemic attack, Myocardial infarction, Congestive heart failure, Hype... |
OMIM:301500 |
Dentin Dysplasia, Type Ii |
|
Dentinogenesis imperfecta limited to primary teeth, Pulp calcification, Thistle tube shaped pulp |
OMIM:125420 |
Variant Abeta2M Amyloidosis |
|
Reduced left ventricular ejection fraction, Abnormal autonomic nervous system physiology |
ORPHA:314652 |
Infantile Krabbe Disease |
|
Psychomotor deterioration, Lower limb spasticity, Respiratory distress, Cachexia, Progressive neu... |
ORPHA:206436 |
Papular Xanthoma |
|
Hyperlipidemia |
ORPHA:158008 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type |
|
Lower limb spasticity, Pain insensitivity, Ataxia, Tonic seizure, Rigidity, Cryptorchidism, Inabi... |
OMIM:300260 |
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome |
|
Seizure, Bilateral tonic-clonic seizure, Gait imbalance, Gait ataxia |
ORPHA:488635 |
Nipah Virus Disease |
|
Respiratory distress, Anorexia, Tremor, Seizure, Myoclonus, Cough |
ORPHA:99825 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Curly hair, Ataxia, Hyperlordosis, Aggressive behavior, Seizure, Self-injurious behavior, Hyperto... |
OMIM:300986 |
Glossopharyngeal Neuralgia |
|
Cranial nerve compression, Jaw claudication, Abnormal glossopharyngeal nerve morphology, Syncope,... |
ORPHA:221098 |
Postorgasmic Illness Syndrome |
|
Fever, Hypertension, Palpitations |
ORPHA:279947 |
Pseudohypoparathyroidism Type 2 |
|
Prolonged QT interval |
ORPHA:94090 |
Joubert Syndrome With Renal Defect |
|
Apnea, Ataxia, Seizure, Gait disturbance, Abnormal pattern of respiration |
ORPHA:220497 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Mandibular prognathia, Hypospadias, Abnormal pinna morphology, Tremor, Cryptorchidism, Thick lowe... |
OMIM:300354 |
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant |
|
Autonomic bladder dysfunction, Ataxia, Autonomic erectile dysfunction, Orthostatic hypotension du... |
OMIM:169500 |
Proximal Spinal Muscular Atrophy |
|
Hypoventilation, Neonatal respiratory distress, Respiratory insufficiency due to muscle weakness,... |
ORPHA:70 |
Spermatogenic Failure 64 |
|
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... |
OMIM:619696 |
Thrombotic Thrombocytopenic Purpura |
|
Fever, Arrhythmia, Myocardial infarction |
ORPHA:54057 |
Mantle Cell Lymphoma |
|
Weight loss |
ORPHA:52416 |
X-Linked Intellectual Disability, Van Esch Type |
|
Hypergonadotropic hypogonadism, Cryptorchidism, Increased circulating gonadotropin level, Absence... |
ORPHA:163976 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Lethargy, Paresthesia, Anorexia |
ORPHA:49827 |
Myopathy, Myofibrillar, 8 |
|
Reduced vital capacity, Elevated circulating creatine kinase concentration, Micrognathia, Dental ... |
OMIM:617258 |
Neurodegeneration With Brain Iron Accumulation 4 |
|
Generalized dystonia, Ataxia, Parkinsonism, Impulsivity, Tremor, Babinski sign, Mental deteriorat... |
OMIM:614298 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Restlessness, Confusion, Abnormal fear-induced behavior, Respiratory insufficiency, Depression, A... |
ORPHA:100924 |
Perrault Syndrome 4 |
|
Premature ovarian insufficiency, Increased circulating gonadotropin level, Obesity, Secondary ame... |
OMIM:615300 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, H... |
OMIM:300635 |
Combined Oxidative Phosphorylation Deficiency 2 |
|
Elevated hepatic transaminase, Lethargy, Small for gestational age |
OMIM:610498 |
Fanconi Anemia, Complementation Group S |
|
Macrodontia, Short stature, Dental malocclusion, Narrow palate, Failure to thrive, Thick upper li... |
OMIM:617883 |
Spinocerebellar Ataxia Type 36 |
|
Ataxia, Babinski sign, Truncal ataxia, Dysmetria, Hand tremor, Limb ataxia, Dysphagia, Tongue fas... |
ORPHA:276198 |
Caribbean Parkinsonism |
|
Orthostatic hypotension, Bradykinesia, Progressive gait ataxia, Abnormal autonomic nervous system... |
ORPHA:97355 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Respiratory distress, Hypoventilation, Epileptic spasm, Apnea, Bilateral tonic-clonic seizure wit... |
ORPHA:314655 |
Plin1-Related Familial Partial Lipodystrophy |
|
Hepatic steatosis, Hypertriglyceridemia, Hepatic fibrosis |
ORPHA:280356 |
Meier-Gorlin Syndrome 8 |
|
Micrognathia, Bilateral cryptorchidism, Microtia, Thick vermilion border, Low-set ears, Narrow mo... |
OMIM:617564 |
Allergic Bronchopulmonary Aspergillosis |
|
Asthma, Bronchiectasis, Respiratory insufficiency, Weight loss, Cough, Pulmonary arterial hyperte... |
ORPHA:1164 |
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy |
|
Focal hyperkinetic seizure, Bilateral tonic-clonic seizure, Depression, Attention deficit hyperac... |
ORPHA:98784 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Respiratory distress, Tachycardia, Intermittent hyperventilation, Episodic tachypnea, Dyspnea, Ap... |
ORPHA:348 |
Presynaptic Congenital Myasthenic Syndromes |
|
Waddling gait, Sudden episodic apnea, Ataxia, Intermittent episodes of respiratory insufficiency ... |
ORPHA:98914 |
Congenital Myasthenic Syndrome |
|
Waddling gait, Sudden episodic apnea, Ataxia, Intermittent episodes of respiratory insufficiency ... |
ORPHA:590 |
Congenital Lobar Emphysema |
|
Respiratory distress, Emphysema |
ORPHA:1928 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Ataxia, Kyphosis, Abnormal pyramidal sign, Dysmetria, Long eyelashes, Paresthesia, Scoliosis, Abn... |
ORPHA:48431 |
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Dystonia, Ataxia, Short stature, Postural tremor, Tremor, Babinski sign, Dysmetria, Seizure, Dysp... |
OMIM:607694 |
Coenzyme Q10 Deficiency, Primary, 4 |
|
Epilepsia partialis continua, Ataxia, Tremor, Abnormal pyramidal sign, Seizure, Myoclonus, Genera... |
OMIM:612016 |
Congenital Generalized Lipodystrophy |
|
Mandibular prognathia, Hepatomegaly, Hypertriglyceridemia, Macroglossia, Cirrhosis, Hypercholeste... |
ORPHA:528 |
Cardiomyopathy, Dilated, 1S |
|
Tricuspid regurgitation, Sudden cardiac death, Congestive heart failure, Dilated cardiomyopathy, ... |
OMIM:613426 |
Childhood Absence Epilepsy |
|
Bilateral tonic-clonic seizure, Typical absence seizure, Depression, Punding, Attention deficit h... |
ORPHA:64280 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Respiratory distress, Neonatal respiratory distress, Ataxia, Apnea, Hypopnea, Hypertonia, Myoclon... |
OMIM:618426 |
Congenital Disorder Of Glycosylation, Type Ij |
|
Apnea, Infantile spasms, Aggressive behavior, Respiratory insufficiency, Seizure |
OMIM:608093 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Hypopigmentation of hair, Broad-based gait, Ataxia, Hyperactivity, Abnormal eating behavior, Trem... |
ORPHA:98794 |
Dilated Cardiomyopathy With Ataxia |
|
Elevated hepatic transaminase, Prolonged QT interval, Ataxia, Microvesicular hepatic steatosis, M... |
ORPHA:66634 |
Pleural Mesothelioma |
|
Respiratory distress, Dyspnea, Abnormal respiratory system physiology, Weight loss, Cough, Pleura... |
ORPHA:50251 |
Familial Chylomicronemia Syndrome |
|
Acute pancreatitis, Hypertriglyceridemia, Pulmonary embolism, Hyperlipidemia, Jaundice, Depressio... |
ORPHA:444490 |
Mehmo Syndrome |
|
Hypoplasia of penis, Diabetes mellitus, External genital hypoplasia, Cryptorchidism, Obesity, Dow... |
ORPHA:85282 |
Mohr-Tranebjaerg Syndrome |
|
Generalized dystonia, Dystonia, Tremor, Inability to walk, Babinski sign, Abnormal pyramidal sign... |
ORPHA:52368 |
Parkinson Disease 18, Autosomal Dominant, Susceptibility To |
|
Rigidity, Resting tremor, Bradykinesia, Parkinsonism |
OMIM:614251 |
X-Linked Creatine Transporter Deficiency |
|
Ataxia, Cachexia, Chorea, Athetosis, Hypertonia, Dystonia |
ORPHA:52503 |
Tenorio Syndrome |
|
Apnea, Recurrent pneumonia, Seizure, Gait disturbance, Emotional lability |
OMIM:616260 |
Baralle-Macken Syndrome |
|
Inability to walk, Obesity, Dystonia |
OMIM:619255 |
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Microretrognathia, Short stature, Cachexia, Long philtrum, Abnormal palate morphology |
ORPHA:1389 |
Pontocerebellar Hypoplasia, Type 7 |
|
Apnea, Ataxia, Spastic paraplegia, Opisthotonus, Choreoathetosis, Hypertonia, Tongue fasciculatio... |
OMIM:614969 |
Intellectual Developmental Disorder, Autosomal Recessive 44 |
|
Focal-onset seizure, Bilateral tonic-clonic seizure |
OMIM:615942 |
Neurological Conditions Associated With Aminoacylase 1 Deficiency |
|
Seizure, Apnea |
ORPHA:137754 |
Alexander Disease |
|
Ataxia, Facial palsy, Sudden cardiac death, Hypothermia, Hypertension, Gait disturbance, Abnormal... |
ORPHA:58 |
Brown-Vialetto-Van Laere Syndrome 1 |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Ataxia, Dyspnea, Vocal ... |
OMIM:211530 |
Rett Syndrome |
|
Dystonia, Limb apraxia, Inability to walk, Bradykinesia, Seizure, Gait disturbance, Agitation, Sc... |
ORPHA:778 |
Diabetes Mellitus, Permanent Neonatal, 2 |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Myoclonic seizure |
OMIM:618856 |
Bdv Syndrome |
|
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Micrognathia, Cryptor... |
OMIM:619326 |
Early-Onset Autosomal Dominant Alzheimer Disease |
|
Ataxia, Parkinsonism, Seizure, Hypertonia, Agitation, Myoclonus, Disinhibition, Apraxia, Oculomot... |
ORPHA:1020 |
Body Mass Index Quantitative Trait Locus 19 |
|
Hyperlipidemia, Hypertriglyceridemia, Obesity |
OMIM:617885 |
Hypoadrenocorticism, Familial |
|
Seizure, Apnea |
OMIM:240200 |
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss |
|
Wolff-Parkinson-White syndrome, Ataxia, Optic atrophy, Dysmetria, Gait ataxia, Bradykinesia, Trun... |
OMIM:601338 |
Autosomal Recessive Spastic Paraplegia Type 53 |
|
Impaired vibratory sensation, Clonus, Kyphosis, Impaired proprioception, Upper limb hypertonia, L... |
ORPHA:319199 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Delayed eruption of teeth, Short stature, Moderately short stature, Dental malocclusion, High pal... |
OMIM:612350 |
Allan-Herndon-Dudley Syndrome |
|
Ataxia, Failure to thrive in infancy, Small for gestational age, Abnormality of thyroid physiolog... |
ORPHA:59 |
Gm1-Gangliosidosis, Type Iii |
|
Dystonia, Ataxia, Kyphosis, Slurred speech, Platyspondyly, Scoliosis, Anterior beaking of lumbar ... |
OMIM:230650 |
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy |
|
Respiratory insufficiency due to muscle weakness, Cardiomyopathy, Abnormal atrioventricular condu... |
ORPHA:329336 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
|
Reduced forced vital capacity, Cardiomyopathy, Wolff-Parkinson-White syndrome |
OMIM:619566 |
Immunodeficiency 61 |
|
Recurrent sinusitis, Obesity, Attention deficit hyperactivity disorder |
OMIM:300310 |
Menkes Disease |
|
Intracranial hemorrhage, Hypothermia |
OMIM:309400 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Failure to thrive in infancy, Cachexia, Inability to walk, Hypertonia, Spasticity |
OMIM:616801 |
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities |
|
Spasticity, Seizure, Inappropriate laughter, High anterior hairline, Recurrent hand flapping |
OMIM:618859 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F |
|
Tremor, Dysphagia, Distal sensory impairment |
OMIM:607734 |
Intellectual Developmental Disorder, Autosomal Recessive 79 |
|
Broad-based gait, Incoordination, Tongue thrusting, Gait ataxia, Intention tremor |
OMIM:620393 |
4Q21 Microdeletion Syndrome |
|
Short neck, Tremor, Kyphosis, Synophrys, Seizure, Self-injurious behavior, Long eyelashes, Scolio... |
ORPHA:238750 |
Cryptogenic Organizing Pneumonia |
|
Respiratory distress, Bronchial breath sound, Crackles, Nonproductive cough, Dyspnea, Wheezing, P... |
ORPHA:1302 |
D-Glyceric Aciduria |
|
Neonatal respiratory distress, Bradycardia |
OMIM:220120 |
Congenital Muscular Dystrophy With Intellectual Disability |
|
Fatigable weakness of skeletal muscles, Abnormality of the tongue muscle, Cryptorchidism, Poor gr... |
ORPHA:370968 |
Apolipoprotein C-Ii Deficiency |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration... |
OMIM:207750 |
Neuropathy, Congenital Hypomyelinating, 3 |
|
Cachexia, Babinski sign, Respiratory insufficiency, Respiratory failure, Dystonia, Spasticity |
OMIM:618186 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Acute hepatic failure, Elevated hepatic transaminase, Prolonged QT interval, Dilated cardiomyopat... |
ORPHA:71212 |
Tangier Disease |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
OMIM:205400 |
O'Donnell-Luria-Rodan Syndrome |
|
Aggressive behavior, Cryptorchidism, Kyphosis, Self-injurious behavior, Seizure, Skin-picking |
OMIM:618512 |
Autism, Susceptibility To, 3 |
|
Restrictive behavior, Impaired ability to form peer relationships, Seizure, Abnormal repetitive m... |
OMIM:608049 |
Angelman Syndrome Due To A Point Mutation |
|
Broad-based gait, Ataxia, Abnormal eating behavior, Tongue thrusting, Obesity, Inappropriate laug... |
ORPHA:411511 |
Spermatogenic Failure 31 |
|
Male infertility, Acephalic spermatozoa |
OMIM:618112 |
Pyruvate Carboxylase Deficiency |
|
Tremor, Tachypnea, Abnormal pyramidal sign, Hypoglutaminemia, Hepatomegaly, Ataxia, Apathy, Eleva... |
ORPHA:3008 |
Spermatogenic Failure 53 |
|
Male infertility, Tapered sperm head |
OMIM:619258 |
Spermatogenic Failure 26 |
|
Male infertility, Acephalic spermatozoa |
OMIM:617961 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Epistaxis, Intracranial hemorrhage, Hypertension, Second degree atrioventricular block, Pulmonary... |
ORPHA:369929 |
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency |
|
Tremor, Abnormal pyramidal sign, Seizure, Progressive cerebellar ataxia, Myoclonus, Dystonia |
ORPHA:139485 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Hyperactivity, Ataxia, Bilateral tonic-clonic seizure with focal onset, Aggressive behavior, Foca... |
ORPHA:163681 |
Trisomy X |
|
Tremor, Depression, Seizure, Cognitive impairment, Attention deficit hyperactivity disorder |
ORPHA:3375 |
Williams-Beuren Region Duplication Syndrome |
|
Speech apraxia, Small for gestational age, Decreased response to growth hormone stimulation test,... |
OMIM:609757 |
Cataracts, Spastic Paraparesis, And Speech Delay |
|
Complex febrile seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure,... |
OMIM:619338 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Impaired distal proprioception, Dysmetria, Gait ataxia, Progressive gait ataxia, Ataxia, Hypoesth... |
OMIM:607459 |
Visceral Neuropathy, Familial, 1, Autosomal Recessive |
|
Aganglionic megacolon, Abnormal autonomic nervous system physiology, Gait ataxia |
OMIM:243180 |
Laurence-Moon Syndrome |
|
Ataxia, Obesity |
OMIM:245800 |
Congenital Disorder Of Glycosylation, Type Iiy |
|
Bilateral tonic-clonic seizure, Status epilepticus |
OMIM:620200 |
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly |
|
Pain insensitivity, Highly arched eyebrow, Aggressive behavior, Seizure, Scoliosis, Attention def... |
OMIM:618825 |
Parkinson Disease 20, Early-Onset |
|
Eyelid apraxia, Involuntary movements, Parkinsonism, Tremor, Rigidity, Dysphagia, Bradykinesia, G... |
OMIM:615530 |
Aortic Arch Interruption |
|
Respiratory distress, Bicuspid aortic valve, Tachypnea, Aortic valve atresia, Aortopulmonary wind... |
ORPHA:2299 |
Otodental Syndrome |
|
Delayed eruption of teeth, High-frequency sensorineural hearing impairment, Abnormal dental ename... |
ORPHA:2791 |
Insulinoma |
|
Increased body weight, Transient global amnesia, Paresthesia, Abnormality of pain sensation, Leth... |
ORPHA:97279 |
Developmental And Epileptic Encephalopathy 68 |
|
Respiratory distress, Exaggerated startle response, Clonus, Myoclonus, Spasticity, Failure to thrive |
OMIM:618201 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Obesity |
ORPHA:88643 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Wolff-Parkinson-White syndrome, Congestive heart failure, Hypertrophic cardiomyopathy |
OMIM:618234 |
Neurodevelopmental Disorder With Hearing Loss And Spasticity |
|
Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Generalized non-motor (abs... |
OMIM:619616 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Lethargy, Agitation, Polyphagia, Large for gestational age |
ORPHA:276580 |
Pituitary Hormone Deficiency, Combined Or Isolated, 7 |
|
Postnatal growth retardation, Truncal obesity, Abdominal obesity, Short stature |
OMIM:618160 |
Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Apnea, Bilateral tonic-clonic seizure, Ataxia, Aggressive behavior, Inability to walk, Irritabili... |
OMIM:617799 |
11Q22.2Q22.3 Microdeletion Syndrome |
|
Abnormal social behavior, Obesity |
ORPHA:444002 |
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly |
|
Seizure, Failure to thrive, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure |
OMIM:616281 |
Glass Syndrome |
|
Restlessness, Hyperactivity, Broad-based gait, Apnea, Bilateral tonic-clonic seizure, Aggressive ... |
OMIM:612313 |
Maple Syrup Urine Disease |
|
Elevated circulating branched chain amino acid concentration, Ataxia, Hypertonia, Elevated circul... |
OMIM:248600 |
Myotonia, Potassium-Aggravated |
|
Stridor, Apneic episodes in infancy |
OMIM:608390 |
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Elevated hepatic transaminase, Hepatomegaly, Bilateral tonic-clonic seizure, Chorea, Right ventri... |
ORPHA:369840 |
Atrial Septal Defect, Coronary Sinus Type |
|
Bundle branch block, Left-to-right shunt, Abnormally loud pulmonic component of the second heart ... |
ORPHA:99104 |
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers |
|
Short stature, Obesity |
ORPHA:276630 |
Leber Optic Atrophy |
|
Arrhythmia, Ataxia, Optic atrophy, Optic neuropathy |
OMIM:535000 |
Gaucher Disease, Type Ii |
|
Apnea, Rigidity, Stridor, Hypertonia, Cough, Oculomotor apraxia, Spasticity, Failure to thrive, R... |
OMIM:230900 |
Marshall-Smith Syndrome |
|
Apnea, Premature ventricular contraction, Stridor, Hypertension, Aspiration pneumonia, Pulmonary ... |
OMIM:602535 |
Methylmalonic Aciduria, Cbla Type |
|
Methylmalonic acidemia, Hepatomegaly, Respiratory distress, Tremor, Hyperammonemia, Hyperglycinem... |
OMIM:251100 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Dental crowding, Micrognathia,... |
OMIM:615381 |
Citrullinemia, Classic |
|
Hepatomegaly, Ataxia, Hyperglutaminemia, Hyperammonemia, Episodic ammonia intoxication, Cirrhosis... |
OMIM:215700 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Stridor, Bradycardia, Hypothermia |
OMIM:218700 |
Joubert Syndrome With Ocular Defect |
|
Apnea, Ataxia, Seizure, Gait disturbance, Abnormal pattern of respiration |
ORPHA:220493 |
Intellectual Developmental Disorder, Autosomal Recessive 13 |
|
Truncal obesity, Hyperactivity, Recurrent hand flapping, Bruxism |
OMIM:613192 |
Cardiomyopathy, Familial Restrictive, 3 |
|
Abnormal ST segment, Reduced left ventricular ejection fraction, Hypotension, Left axis deviation... |
OMIM:612422 |
Mercury Poisoning |
|
Respiratory distress, Confusion, Anorexia, Tremor, Dyspnea, Seizure, Respiratory failure, Interst... |
ORPHA:330021 |
Ebstein Malformation Of The Tricuspid Valve |
|
Atrial fibrillation, Sudden cardiac death, Congestive heart failure, Right bundle branch block, C... |
ORPHA:1880 |
Autosomal Recessive Frontotemporal Pachygyria |
|
Seizure, Bilateral tonic-clonic seizure |
ORPHA:329329 |
Peroxisome Biogenesis Disorder 5B |
|
Ataxia, Tremor, Unsteady gait, Elevated circulating phytanic acid concentration, Dysmetria, Decre... |
OMIM:614867 |
Combined Oxidative Phosphorylation Defect Type 39 |
|
Optic disc pallor, Decreased nerve conduction velocity, Tip-toe gait, Bradycardia, Loss of ambula... |
ORPHA:565624 |
Pycnodysostosis |
|
Obtuse angle of mandible, Rhizomelia, Delayed eruption of primary teeth, Micrognathia, Hypoplasia... |
ORPHA:763 |
Scrub Typhus |
|
Tremor, Splenomegaly, Dyspnea, Restrictive ventilatory defect, Cough, Lethargy |
ORPHA:83317 |
Kallmann Syndrome |
|
Hypoplasia of penis, Tremor, Micropenis, Ataxia, Hypogonadotropic hypogonadism, Cryptorchidism, O... |
ORPHA:478 |
Nephronophthisis 15 |
|
Obesity |
OMIM:614845 |
Auriculocondylar Syndrome |
|
Abnormality of the temporomandibular joint, Dental crowding, Hamartoma of tongue, Micrognathia, N... |
ORPHA:137888 |
Hijazi-Reis Syndrome |
|
Lower limb spasticity, Ankle clonus, Seizure, Gait disturbance, Abnormal repetitive mannerisms |
OMIM:301094 |
Spinocerebellar Ataxia, Autosomal Recessive 33 |
|
Arrhythmia, Truncal ataxia, Broad-based gait, Gait ataxia |
OMIM:620208 |
Arthrogryposis, Distal, Type 1C |
|
Pursed lips, Cryptorchidism, Cleft lip, Narrow mouth, Cleft palate, Thin vermilion border, High p... |
OMIM:619110 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Hypertrophic cardiomyopathy, Respiratory failure, Hypothermia, Respiratory insufficiency |
OMIM:618329 |
Developmental And Speech Delay Due To Sox5 Deficiency |
|
Vertebral fusion, Thoracic kyphoscoliosis, Lumbar hyperlordosis, Aggressive behavior, Seizure, Se... |
ORPHA:313892 |
Prolactin Deficiency With Obesity And Enlarged Testes |
|
Obesity |
OMIM:264120 |
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures |
|
Multifocal seizures, Bilateral tonic-clonic seizure, Ataxia, Generalized non-motor (absence) seiz... |
OMIM:618170 |
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Incoordination, Tremor, Paraparesis, Babinski sign, Dysmetria, Distal sensory impairment, Hand tr... |
OMIM:302800 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hepatic steatosis, Hyperthreoninemia, H... |
ORPHA:247598 |
Trisomy 5P |
|
Short stature, Obesity |
ORPHA:1742 |
Dentici-Novelli Neurodevelopmental Syndrome |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Inability to walk, Myoclonic seizure, Hypertonia... |
OMIM:619877 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Thin upper lip vermilion, Hepatomegaly, Crackles, Dyspnea, Asthma, Wheezing, Bronchiectasis, Chol... |
OMIM:620233 |
Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Hyperactivity, Aggressive behavior, Unsteady gait, Seizure, Febrile seizure (within the age range... |
OMIM:615516 |
Renal Nutcracker Syndrome |
|
Orthostatic hypotension, Syncope, Tachycardia, Abnormal autonomic nervous system physiology |
ORPHA:71273 |
Cerebral Creatine Deficiency Syndrome 1 |
|
Prolonged QT interval, Aggressive behavior, Attention deficit hyperactivity disorder, Failure to ... |
OMIM:300352 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Methylmalonic acidemia, Hepatomegaly, Respiratory distress, Hyperammonemia, Hyperglycinemia, Leth... |
OMIM:251000 |
Nephrotic Syndrome, Type 11 |
|
Micrognathia, Cleft lip, Cleft palate, High palate, Hypoalbuminemia, Hypercholesterolemia, Smooth... |
OMIM:616730 |
Biemond Syndrome Type 2 |
|
Short stature, Obesity, Delayed puberty |
ORPHA:141333 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Hepatomegaly, Elevated hepatic transaminase, Hypertriglyceridemia, Ataxia, Increase... |
OMIM:603553 |
Peho-Like Syndrome |
|
Bilateral tonic-clonic seizure, Myoclonus, Status epilepticus |
OMIM:617507 |
Hartnup Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:234500 |
Parkinson Disease, Late-Onset |
|
Resting tremor, Dystonia, Parkinsonism, Tremor, Rigidity, Depression, Bradykinesia, Dementia, Dys... |
OMIM:168600 |
Young-Onset Parkinson Disease |
|
Restless legs, Short attention span, Impulsivity, Tremor, Rigidity, Depression, Bradykinesia, Fro... |
ORPHA:2828 |
Developmental And Epileptic Encephalopathy 4 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Choreoathetosis, Status epilepticus, Generalized... |
OMIM:612164 |
Joubert Syndrome 2 |
|
Central apnea, Ataxia, Episodic tachypnea, Oculomotor apraxia, Failure to thrive, Neonatal breath... |
OMIM:608091 |
Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Motor tics, Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder |
OMIM:619927 |
Al Amyloidosis |
|
Gastrointestinal hemorrhage, Abnormal EKG, Jaw claudication, Reduced left ventricular ejection fr... |
ORPHA:85443 |
Sneddon Syndrome |
|
Tremor, Chorea, Hemiparesis, Seizure, Dementia, Mental deterioration, Memory impairment |
ORPHA:820 |
14Q11.2 Microduplication Syndrome |
|
Polyphagia, Obesity, Attention deficit hyperactivity disorder, Aggressive behavior |
ORPHA:261229 |
Ataxia With Vitamin E Deficiency |
|
Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetria, Dysdiadochokinesis, H... |
ORPHA:96 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Wolff-Parkinson-White syndrome, Congestive heart failure, Severely reduced left ventricular eject... |
ORPHA:444013 |
Fixed Subaortic Stenosis |
|
Paroxysmal atrial fibrillation, Bicuspid aortic valve, Cardiomegaly, Bacterial endocarditis, Atri... |
ORPHA:3092 |
Behr Syndrome |
|
Ataxia, Tremor, Babinski sign, Unsteady gait, Dysmetria, Dysphagia, Gait disturbance, Progressive... |
OMIM:210000 |
Multiple Pterygium Syndrome, Lethal Type |
|
Akinesia |
OMIM:253290 |
Intermediate Osteopetrosis |
|
Abnormal dental morphology, Abnormality of the dentition, Dental malocclusion, Hepatosplenomegaly... |
ORPHA:210110 |
Intellectual Developmental Disorder, X-Linked 98 |
|
Lower limb spasticity, Hyperactivity, Bilateral tonic-clonic seizure, Ataxia, Infantile spasms, T... |
OMIM:300912 |
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Dystonia, Parkinsonism, Tremor, Rigidity, Head titubation, Inability to walk, Gait ataxia, Choreo... |
OMIM:618877 |
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Short stature, Progressive neurologic deterioration, Tremor, Hypertonia, Gait disturbance, Photos... |
ORPHA:1192 |
Lipodystrophy, Familial Partial, Type 4 |
|
Hypertriglyceridemia, Hepatic steatosis |
OMIM:613877 |
Pulmonary Alveolar Microlithiasis |
|
Increased pulmonary vascular resistance, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, B... |
ORPHA:60025 |
Waisman Syndrome |
|
Resting tremor, Parkinsonism, Rigidity, Cogwheel rigidity, Bradykinesia, Seizure, Dementia, Shuff... |
OMIM:311510 |
Intellectual Developmental Disorder, X-Linked 107 |
|
Hyperactivity, Obesity, Attention deficit hyperactivity disorder, Aggressive behavior |
OMIM:301013 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
Lethargy, Elevated circulating creatine kinase concentration, Hyperammonemia, Gait imbalance |
OMIM:618120 |
Endosteal Hyperostosis, Autosomal Dominant |
|
Dental malocclusion, Torus palatinus |
OMIM:144750 |
Ritscher-Schinzel Syndrome 4 |
|
Curly hair, Bilateral tonic-clonic seizure, Ataxia, Impulsivity, Aggressive behavior, Focal-onset... |
OMIM:619435 |
Spermatogenic Failure 81 |
|
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia |
OMIM:620277 |
Hypomyelination Neuropathy-Arthrogryposis Syndrome |
|
Respiratory distress |
ORPHA:2680 |
Momo Syndrome |
|
Delayed eruption of teeth, Short stature, Large for gestational age, Thick lower lip vermilion, D... |
ORPHA:2563 |
Choreoacanthocytosis |
|
Chorea, Oromandibular dystonia, Hypertonia, Compulsive behaviors, Limb dystonia, Loss of ambulati... |
ORPHA:2388 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Respiratory distress, Crackles, Dyspnea, Chronic pulmonary obstruction, Pneumothorax, Bronchiecta... |
ORPHA:411703 |
Prader-Willi Syndrome Due To Imprinting Mutation |
|
Polyphagia, Obesity, Short stature |
ORPHA:177910 |
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome |
|
Thin upper lip vermilion, Cerebral palsy, Ataxia, Hearing impairment, Inability to walk, Cryptorc... |
ORPHA:505237 |
Glutathionuria |
|
Tremor, Asthma, Dysdiadochokinesis, Action tremor |
OMIM:231950 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Elevated hepatic transaminase, Resting tremor, Failure to thrive, Bipolar affective disorder, Ata... |
ORPHA:254892 |
Acute Myelomonocytic Leukemia |
|
Dyspnea, Abnormality of the gingiva, Weight loss |
ORPHA:517 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Pulmonary arterial hypertension, Second degree atrioventricular block, Hypertension |
OMIM:615474 |
Lipodystrophy, Familial Partial, Type 1 |
|
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia |
OMIM:608600 |
Cortisone Reductase Deficiency 1 |
|
Obesity |
OMIM:604931 |
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To |
|
Ataxia, Elevated circulating aspartate aminotransferase concentration, Elevated circulating uraci... |
OMIM:311250 |
Stormorken Syndrome |
|
Increased muscle fatiguability, Short stature |
OMIM:185070 |
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome |
|
Inability to walk, Bilateral tonic-clonic seizure, Irritability |
ORPHA:457205 |
Schaaf-Yang Syndrome |
|
Mandibular prognathia, Failure to thrive in infancy, Abnormality of the philtrum, Inability to wa... |
OMIM:615547 |
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome |
|
Bilateral tonic-clonic seizure, Dysmetria, Gait ataxia, Seizure, Status epilepticus, Difficulty w... |
ORPHA:529665 |
Cockayne Syndrome Type 2 |
|
Mandibular prognathia, Lower limb spasticity, Ataxia, Delayed eruption of primary teeth, Hearing ... |
ORPHA:90322 |
Primary Progressive Freezing Gait |
|
Restless legs, Postural tremor, Clonus, Rigidity, Babinski sign, Bradykinesia, Gait imbalance, Sh... |
ORPHA:75567 |
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome |
|
Oral-pharyngeal dysphagia, Tremor, Postnatal growth retardation, Obesity, Dystonia |
ORPHA:480907 |
Classic Hodgkin Lymphoma |
|
Weight loss, Ataxia, Respiratory insufficiency, Cough |
ORPHA:391 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Cerebral vasculitis, Fever, Abnormal autonomic nervous system physiology |
ORPHA:83601 |
Wild Type Abeta2M Amyloidosis |
|
Gastrointestinal hemorrhage, Decreased nerve conduction velocity, Congestive heart failure, Arrhy... |
ORPHA:85446 |
Mandibuloacral Dysplasia |
|
Hypertriglyceridemia, Dental crowding, Micrognathia, Increased circulating free fatty acid level,... |
ORPHA:2457 |
Tularemia |
|
Respiratory distress, Fever, Tachycardia, Pneumonia, Cough, Pleural effusion |
ORPHA:3392 |
Kleefstra Syndrome 2 |
|
Kyphosis, Self-injurious behavior, Seizure, Scoliosis, Thick eyebrow |
OMIM:617768 |
Laryngotracheoesophageal Cleft Type 4 |
|
Abnormal lower motor neuron morphology, Respiratory insufficiency, Cachexia |
ORPHA:93941 |
Momo Syndrome |
|
Delayed eruption of teeth, Thick lower lip vermilion, Dental malocclusion, Obesity, Taurodontia, ... |
OMIM:157980 |
Adult-Onset Cervical Dystonia, Dyt23 Type |
|
Axial dystonia, Torticollis, Writer's cramp, Unsteady gait, Limb tremor, Focal dystonia, Myoclonu... |
ORPHA:420492 |
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Broad-based gait, Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic s... |
ORPHA:98795 |
Protoporphyria, Erythropoietic, 1 |
|
Cholelithiasis, Hypertriglyceridemia, Hepatic failure |
OMIM:177000 |
Wilson-Turner Syndrome |
|
Thin upper lip vermilion, Hypogonadotropic hypogonadism, Uplifted earlobe, Malar prominence, Micr... |
ORPHA:3459 |
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities |
|
Highly arched eyebrow, Aggressive behavior, Babinski sign, Scissor gait, Spastic tetraplegia, Dys... |
OMIM:619121 |
Chronic Beryllium Disease |
|
Lymphocytic interstitial pneumonia, Dyspnea, Abnormality on pulmonary function testing, Abnormal ... |
ORPHA:133 |
Lujo Hemorrhagic Fever |
|
Respiratory distress, Shock, Fever, Crackles, Nonproductive cough, Myocarditis, Subconjunctival h... |
ORPHA:319213 |
Gm1 Gangliosidosis |
|
Generalized dystonia, Ataxia, Bilateral tonic-clonic seizure with generalized onset, Short statur... |
ORPHA:354 |
Deafness-Intellectual Disability Syndrome, Martin-Probst Type |
|
Short stature, Micrognathia, Abnormality of the dentition, Thick lower lip vermilion, Dental malo... |
ORPHA:85321 |
Parastremmatic Dwarfism |
|
Kyphosis, Scoliosis, Short neck |
OMIM:168400 |
Congenital Tracheomalacia |
|
Neonatal respiratory distress, Apnea, Intercostal retractions, Pneumonia, Productive cough, Dyspn... |
ORPHA:95430 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Inability to walk, Gray matter heterotopia, Exercise-induced muscle fatigue |
ORPHA:26791 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypertriglyceridemia, Pulmonary embolism, Peritonitis, Hypoalbuminemia, Hypercholesterolemia, Abn... |
ORPHA:567548 |
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome |
|
Decreased distal sensory nerve action potential, Ataxia, Limb ataxia, Gait ataxia, Abnormal auton... |
OMIM:614575 |
Polycystic Ovary Syndrome 1 |
|
Obesity |
OMIM:184700 |
Brown-Vialetto-Van Laere Syndrome 2 |
|
Ataxia, Dysphagia, Hypokinesia, Aggressive behavior |
OMIM:614707 |
Intellectual Developmental Disorder, Autosomal Dominant 34 |
|
Curly hair, Broad-based gait, Bilateral tonic-clonic seizure, Synophrys, Coarse hair, Bruxism, Ab... |
OMIM:616351 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Apnea, Elevated circulating creatine kinase concentration, High palate, Macrovesicular hepatic st... |
OMIM:608836 |
Pierpont Syndrome |
|
Posteriorly rotated ears, Cryptorchidism, Broad philtrum, Prominent median palatal raphe, Large f... |
OMIM:602342 |
Seckel Syndrome 1 |
|
Dental crowding, Selective tooth agenesis, Proportionate short stature, Micrognathia, Postnatal g... |
OMIM:210600 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Respiratory distress, Short attention span, Broad-based gait, Exaggerated startle response, Ataxi... |
ORPHA:438216 |
Bardet-Biedl Syndrome 7 |
|
Obesity |
OMIM:615984 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Decreased thyroid-stimulating hormone level, Hyperthyroidism, Increased circulating free T4 conce... |
OMIM:613239 |
Congenital Disorder Of Glycosylation, Type Ie |
|
Respiratory distress, Ataxia, Tremor, Seizure, Failure to thrive |
OMIM:608799 |
Neutral Lipid Storage Disease With Ichthyosis |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Ataxia, Micronodular cirrhosis... |
ORPHA:98907 |
Ogden Syndrome |
|
Apnea, Ventricular tachycardia, Premature ventricular contraction, Pulmonary arterial hypertensio... |
OMIM:300855 |
Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Male infertility, Bilateral cryptorchidism |
OMIM:261550 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Hyperactivity, Shyness, Aggressive behavior, Depression, Seizure, Irritability, Self-injurious be... |
ORPHA:449291 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Lethargy, Failure to thrive, Anorexia |
OMIM:611590 |
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Short stature, Decreased ... |
OMIM:300580 |
Joubert Syndrome 5 |
|
Central apnea, Ataxia, Episodic tachypnea, Oculomotor apraxia, Neonatal breathing dysregulation |
OMIM:610188 |
Mitochondrial Trifunctional Protein Deficiency |
|
Diffuse hepatic steatosis, Failure to thrive in infancy, Babinski sign, Cholestasis, Respiratory ... |
ORPHA:746 |
Fragile X-Associated Tremor/Ataxia Syndrome |
|
Ataxia, Dysmetria, Gait ataxia, Bradykinesia, Hypertension, Gait disturbance, Abnormal autonomic ... |
ORPHA:93256 |
Pheochromocytoma/Paraganglioma Syndrome 3 |
|
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma |
OMIM:605373 |
Thyroid Hormone Resistance, Generalized, Autosomal Recessive |
|
Increased circulating free T4 concentration, Small for gestational age, Diabetes mellitus, Hearin... |
OMIM:274300 |
Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Growth delay, Aphthous ulcer, Recurrent aphthous stomatitis, Weight loss |
OMIM:266600 |
Infantile Liver Failure Syndrome 2 |
|
Elevated hepatic transaminase, Acute hepatic failure, Jaundice, Hyperammonemia, Lethargy |
OMIM:616483 |
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome |
|
Obesity, Progressive spastic paraplegia |
ORPHA:521390 |
Acromesomelic Dysplasia, Maroteaux Type |
|
Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Abnormal form of the vertebral bodies, Vertebral... |
ORPHA:40 |
Sulfite Oxidase Deficiency, Isolated |
|
Choreoathetosis, Agitation, Bilateral tonic-clonic seizure, Ataxia |
OMIM:272300 |
Galactose Epimerase Deficiency |
|
Growth delay, Weight loss |
ORPHA:79238 |
Hyperlipoproteinemia, Type Id |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Pancre... |
OMIM:615947 |
Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Hepatomegaly, Portal hypertension, Portal vein thrombosis, Splenomegaly, Generalized non-motor (a... |
OMIM:610293 |
Perching Syndrome |
|
Respiratory distress, Dysphagia |
OMIM:617055 |
Chromosome 2Q37 Deletion Syndrome |
|
Hyperactivity, Short stature, Aggressive behavior, Obesity, Self-injurious behavior, Skin-picking... |
OMIM:600430 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit... |
OMIM:171420 |
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Hepatomegaly, Decreased body weight, Dental crowding, Persistence of primary teeth, Micrognathia,... |
OMIM:618342 |
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Hyperactivity, Ataxia, Aggressive behavior, Poor coordination, Seizure, Scoliosis, Compulsive beh... |
OMIM:618430 |
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
Fever, Abnormality of temperature regulation, Hypothermia, Inability to walk, Unsteady gait, Opti... |
OMIM:618493 |
Hyperparathyroidism, Neonatal Severe |
|
Dyspnea, Failure to thrive, Tachypnea |
OMIM:239200 |
Tay-Sachs Disease |
|
Tremor, Dysmetria, Decerebrate rigidity, Progressive spasticity, Aspiration pneumonia, Laryngeal ... |
ORPHA:845 |
Episodic Ataxia Type 1 |
|
Respiratory distress, Poor coordination, Clumsiness, Choreoathetosis, Tip-toe gait, Hypertonia |
ORPHA:37612 |
Posttransplant Acute Limbic Encephalitis |
|
Ataxia, Abnormal autonomic nervous system physiology |
ORPHA:163921 |
Tonne-Kalscheuer Syndrome |
|
Broad-based gait, Hypospadias, Micrognathia, Tremor, Cryptorchidism, Velopharyngeal insufficiency... |
OMIM:300978 |
Perlman Syndrome |
|
Smooth philtrum, Hypoplasia of penis, Posteriorly rotated ears, Micrognathia, Cryptorchidism, Hig... |
ORPHA:2849 |
Gitelman Syndrome |
|
Respiratory distress, Prolonged QT interval, Raynaud phenomenon, Low-to-normal blood pressure, Sy... |
ORPHA:358 |
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures |
|
Stridor, Pulmonary arterial hypertension, Prolonged QT interval |
OMIM:620029 |
Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Methylmalonic acidemia, Hypomethioninemia, Spastic ataxia, Hyperhomocystinemia, Dystonia, Lethargy |
OMIM:277410 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4 |
|
Bilateral tonic-clonic seizure, Inability to walk, Myoclonic seizure, Seizure, Bruxism |
OMIM:615716 |
Abdominal Obesity-Metabolic Syndrome 4 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated hemoglobin A1c, Obesity, ... |
OMIM:618620 |
Pierpont Syndrome |
|
Thin upper lip vermilion, Small for gestational age, Posteriorly rotated ears, Uplifted earlobe, ... |
ORPHA:487825 |
Kabuki Syndrome 2 |
|
Natal tooth, Short stature, Micrognathia, Postnatal growth retardation, Lower lip pit, Dental mal... |
OMIM:300867 |
Glycogen Storage Disease Vii |
|
Exercise-induced muscle fatigue |
OMIM:232800 |
Harrod Syndrome |
|
Dental malocclusion, High palate, Narrow mouth, Intrauterine growth retardation, Failure to thrive |
ORPHA:2115 |
Developmental And Epileptic Encephalopathy 87 |
|
Infantile spasms, Seizure, Hypertonia, Horizontal eyebrow, Scoliosis, Recurrent hand flapping |
OMIM:618916 |
Congenital Aortic Valve Stenosis |
|
Angina pectoris, Sudden cardiac death, Increased QRS voltage, Heart murmur, Abnormal left ventric... |
ORPHA:3093 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Lethargy, Bradycardia, Hypothermia |
ORPHA:90674 |
Developmental And Epileptic Encephalopathy 106 |
|
Focal clonic seizure, Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure |
OMIM:620028 |
Chilblain Lupus 1 |
|
Abnormality of the nail, Skin ulcer |
OMIM:610448 |
Glycogen Storage Disease Ixc |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Bile duct prolif... |
OMIM:613027 |
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies |
|
Thin upper lip vermilion, Abnormal pinna morphology, Hearing impairment, Inability to walk, Crypt... |
OMIM:617452 |
Muscular Hypertonia, Lethal |
|
Respiratory distress, Hypertonia, Pneumonia |
OMIM:254120 |
Hyperlipoproteinemia, Type I |
|
Splenomegaly, Hyperlipidemia, Jaundice, Hepatosplenomegaly, Lactescent serum, Increased circulati... |
OMIM:238600 |
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Bilateral tonic-clonic seizure, Highly arched eyebrow, Infantile spasms, Inability to walk, Gener... |
ORPHA:457351 |
Fatty Acid Hydroxylase-Associated Neurodegeneration |
|
Bilateral tonic-clonic seizure, Focal-onset seizure, Depression, Progressive gait ataxia, Falls, ... |
ORPHA:329308 |
Periventricular Nodular Heterotopia 7 |
|
Microretrognathia, Ataxia, Dental crowding, Micrognathia, Cryptorchidism, Sensorineural hearing i... |
OMIM:617201 |
Leukodystrophy, Hypomyelinating, 6 |
|
Ataxia, Short stature, Tremor, Rigidity, Choreoathetosis, Seizure, Dystonia, Oculomotor apraxia, ... |
OMIM:612438 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Truncal obesity, Abdominal obesity... |
OMIM:615812 |
Temple Syndrome |
|
Small for gestational age, Short stature, Postnatal growth retardation, Obesity, Polyphagia |
ORPHA:254516 |
Wieacker-Wolff Syndrome |
|
Neonatal respiratory distress, Apnea, Apraxia, Oculomotor apraxia, Spasticity |
OMIM:314580 |
Myasthenic Syndrome, Congenital, 25, Presynaptic |
|
Kyphosis, Dysphagia, Scoliosis, Spinal rigidity |
OMIM:618323 |
Snakebite Envenomation |
|
Tachycardia, Epistaxis, Myocardial infarction, Intracranial hemorrhage, Respiratory failure, Resp... |
ORPHA:449285 |
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome |
|
Apnea |
ORPHA:1129 |
Chromosome Xq27.3-Q28 Duplication Syndrome |
|
Small for gestational age, Cryptorchidism, Increased circulating gonadotropin level, Abdominal ob... |
OMIM:300869 |
Robinow Syndrome, Autosomal Dominant 2 |
|
Thin upper lip vermilion, Short stature, Dental crowding, Cleft soft palate, Micrognathia, Abnorm... |
OMIM:616331 |
Pseudohypoparathyroidism Type 1B |
|
Prolonged QT interval, Dyspnea |
ORPHA:94089 |
Congenital Myopathy 22A, Classic |
|
Tricuspid regurgitation, Bradycardia, Respiratory insufficiency |
OMIM:620351 |
Chung-Jansen Syndrome |
|
Attention deficit hyperactivity disorder, Obesity, Impulsivity, Aggressive behavior |
OMIM:617991 |
Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory distress, Intrauterine growth retardation, Respiratory failure, Dyspnea |
ORPHA:1832 |
Orofaciodigital Syndrome Type 6 |
|
Apnea, Episodic tachypnea, Ataxia, Tremor, Gait disturbance, Failure to thrive |
ORPHA:2754 |
Jaberi-Elahi Syndrome |
|
Appendicular spasticity, Broad-based gait, Brittle hair, Sparse eyelashes, Bilateral tonic-clonic... |
OMIM:617988 |
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps |
|
Raynaud phenomenon, Retinal hemorrhage, Supraventricular arrhythmia, Lacunar stroke |
OMIM:611773 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Methylmalonic acidemia, Thin upper lip vermilion, Hepatomegaly, Incoordination, Small for gestati... |
OMIM:277380 |
Amelogenesis Imperfecta, Type If |
|
Dental enamel pits, Abnormality of dental color, Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:616270 |
Ck Syndrome |
|
Hyperactivity, Hyperlordosis, Aggressive behavior, Kyphosis, Seizure, Irritability, Scoliosis |
OMIM:300831 |
Neurodegeneration Due To 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency |
|
Head titubation, Cryptorchidism, Truncal ataxia, Respiratory insufficiency, Dystonia, Failure to ... |
ORPHA:88639 |
Brain Small Vessel Disease 2 |
|
Intracranial hemorrhage, Focal-onset seizure, Bilateral tonic-clonic seizure |
OMIM:614483 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia5 |
|
Carious teeth, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth |
OMIM:615887 |
Trichorhinophalangeal Syndrome, Type I |
|
Delayed eruption of teeth, Thin upper lip vermilion, Short stature, Micrognathia, Carious teeth, ... |
OMIM:190350 |
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter |
|
Broad-based gait, Generalized-onset seizure, Gait ataxia, Difficulty walking, Dystonia, Spasticit... |
OMIM:617807 |
Neuhauser Syndrome |
|
Ataxia, Micrognathia, Poor coordination, High palate, Long philtrum, Hypercholesterolemia, Bifid ... |
OMIM:249310 |
Dystonia 34, Myoclonic |
|
Torticollis, Writer's cramp, Hand tremor, Impaired tandem gait, Myoclonus, Head tremor, Dystonia |
OMIM:619724 |
Hydroxykynureninuria |
|
Tachycardia, Hypotension, Breathing dysregulation |
ORPHA:79155 |
Chromosome 15Q26-Qter Deletion Syndrome |
|
Small for gestational age, Hypospadias, Micrognathia, Cryptorchidism, Low-set ears, Micropenis, F... |
OMIM:612626 |
Mitochondrial Complex I Deficiency, Nuclear Type 9 |
|
Lethargy, Breathing dysregulation, Hypoventilation |
OMIM:618232 |
Mercaptolactate-Cysteine Disulfiduria |
|
Bilateral tonic-clonic seizure |
OMIM:249650 |
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency |
|
Hypertriglyceridemia, Increased HDL cholesterol concentration |
ORPHA:140905 |
African Trypanosomiasis |
|
Somatic sensory dysfunction, Akinesia, Aggressive behavior, Tremor, Impaired proprioception, Weig... |
ORPHA:3385 |
Mosaic Trisomy 14 |
|
Low-set, posteriorly rotated ears, Hypoplasia of penis, Hypospadias, Micrognathia, Cryptorchidism... |
ORPHA:1703 |
Chromosome Xq21 Deletion Syndrome |
|
Obesity |
OMIM:303110 |
Cholera |
|
Lethargy, Tachypnea, Aspiration pneumonia, Hyperventilation |
ORPHA:173 |
Glycogen Storage Disease Ii |
|
Wolff-Parkinson-White syndrome, Fever, Right axis deviation, Subarachnoid hemorrhage, Respiratory... |
OMIM:232300 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Lower limb spasticity, Exaggerated startle response, Ataxia, Spastic tetraparesis, Babinski sign,... |
OMIM:618598 |
Insulin Autoimmune Syndrome |
|
Hyperinsulinemic hypoglycemia, Insulin-resistant diabetes mellitus, Weight loss |
ORPHA:411593 |
Adult-Onset Distal Myopathy Due To Vcp Mutation |
|
Reduced vital capacity, Parkinsonism, Progressive neurologic deterioration, Tremor, Depression, D... |
ORPHA:329478 |
Cerebellar Dysfunction, Impaired Intellectual Development, And Hypogonadotropic Hypogonadism |
|
Broad-based gait, Hypogonadotropic hypogonadism, Cryptorchidism, Dysmetria, Gait ataxia, Decrease... |
OMIM:619761 |
Polyvalvular Heart Disease Syndrome |
|
Aortic valve stenosis, Tricuspid regurgitation, Arrhythmia, Pulmonic stenosis |
ORPHA:228410 |
Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Thin upper lip vermilion, Exaggerated cupid's bow, Dental malocclusion, Wide mouth, Short philtru... |
OMIM:619293 |
Glycogen Storage Disease Iii |
|
Elevated hepatic transaminase, Thin upper lip vermilion, Hepatomegaly, Elevated circulating creat... |
OMIM:232400 |
Migraine, Familial Hemiplegic, 2 |
|
Bilateral tonic-clonic seizure, Confusion, Focal motor seizure, Dysmetria, Gait ataxia, Episodic ... |
OMIM:602481 |
Bardet-Biedl Syndrome 4 |
|
Obesity |
OMIM:615982 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Ataxia, Cachexia |
ORPHA:1933 |
Leptospirosis |
|
Respiratory distress, Fever, Pericarditis, First degree atrioventricular block, Retinal hemorrhag... |
ORPHA:509 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Protruding ear, High palate, Micr... |
OMIM:300534 |
Combined Oxidative Phosphorylation Deficiency 54 |
|
Impaired vibratory sensation, Tremor, Hypoesthesia, Obesity, Hemiparesis, Hypertonia, Memory impa... |
OMIM:619737 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypertyrosinemia, Elevated hepatic transaminase, Failure to thrive, Respiratory distress, Conjuga... |
OMIM:617156 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Bipolar affective di... |
ORPHA:77293 |
Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Fever, Arrhythmia |
ORPHA:57 |
Intellectual Disability, Buenos-Aires Type |
|
Mandibular prognathia, Abnormal dental morphology, Short stature, Open bite, Dental malocclusion,... |
ORPHA:3079 |
Proximal Xq28 Duplication Syndrome |
|
Tented upper lip vermilion, Hypospadias, Cryptorchidism, Gait disturbance, Everted lower lip verm... |
ORPHA:1762 |
Dengue Fever |
|
Hepatomegaly, Epistaxis, Cardiorespiratory arrest, Gingival bleeding, Lethargy, Hypoproteinemia |
ORPHA:99828 |
Griscelli Syndrome Type 1 |
|
Hyperlipidemia, Hypertonia, Ataxia |
ORPHA:79476 |
Hypogonadotropic Hypogonadism 27 Without Anosmia |
|
Obesity |
OMIM:619755 |
Angelman Syndrome |
|
Tremor, Hyperactivity, Ataxia, Tongue thrusting, Seizure, Myoclonus, Atypical absence seizure, Sc... |
ORPHA:72 |
Pseudohypoparathyroidism Type 1C |
|
Prolonged QT interval, Confusion, Dyspnea, Obesity, Depression, Irritability, Paresthesia, Polyph... |
ORPHA:79444 |
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Respiratory distress, Inability to walk, Gait ataxia, Myoclonic seizure, Attention deficit hypera... |
OMIM:619383 |
Congenital Disorder Of Glycosylation, Type Iy |
|
Respiratory distress, Seizure, Failure to thrive |
OMIM:300934 |
Hemochromatosis, Type 4 |
|
Cardiomyopathy, Arrhythmia |
OMIM:606069 |
Combined Oxidative Phosphorylation Deficiency 32 |
|
Kyphoscoliosis, Tremor, Inability to walk, Dysphagia, Choreoathetosis, Seizure, Dystonia, Spasticity |
OMIM:617664 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine ... |
ORPHA:264580 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Thick eyebrow, Pain insensitivity, Aggressive behavior, Tremor, Kyphosis, Synophrys, Low anterior... |
OMIM:617061 |
Den Hoed-De Boer-Voisin Syndrome |
|
Tremor, Abnormal repetitive mannerisms, Ataxia, Nocturnal seizures, Stereotypical hand wringing, ... |
OMIM:619229 |
Achalasia-Addisonianism-Alacrima Syndrome |
|
Orthostatic hypotension, Optic atrophy, Abnormal autonomic nervous system physiology, Ataxia |
OMIM:231550 |
Cri-Du-Chat Syndrome |
|
Microretrognathia, Small for gestational age, Thick lower lip vermilion, Abnormal respiratory sys... |
OMIM:123450 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Postnatal growth retardation, Rhizomelia, Dental malocclusion |
OMIM:608940 |
Congenital Analbuminemia |
|
Small for gestational age, Hyperlipidemia, Obesity, Increased alpha-globulin, Hypoalbuminemia, Hy... |
ORPHA:86816 |
Myasthenic Syndrome, Congenital, 21, Presynaptic |
|
Difficulty walking, Apnea, Respiratory insufficiency |
OMIM:617239 |
Fetal Akinesia Syndrome, X-Linked |
|
Hypokinesia |
OMIM:300073 |
Dysbetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Acute pancreatitis, ... |
ORPHA:412 |
Familial Atrial Myxoma |
|
Tricuspid regurgitation, Cardiomegaly, Pulmonic valve myxoma, Jaundice, Cardiac myxoma, Congestiv... |
ORPHA:615 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Mandibular prognathia, Microretrognathia, Hearing impairment, Micrognathia, Carious teeth, Pierre... |
OMIM:618363 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Elevated hepatic transaminase, Neoplasm of the pancreas, Broad-based gait, Small for gestational ... |
ORPHA:2959 |
Neurodegeneration With Brain Iron Accumulation 2B |
|
Short attention span, Hyperactivity, Dystonia, Impulsivity, Chorea, Babinski sign, Dysmetria, Gai... |
OMIM:610217 |
Rafiq Syndrome |
|
Ataxia, Short stature, Aggressive behavior, Obesity, Truncal obesity |
OMIM:614202 |
Severe X-Linked Intellectual Disability, Gustavson Type |
|
Small for gestational age, Hypertonia, Apneic episodes in infancy, Myoclonus, Spasticity |
ORPHA:3078 |
Joubert Syndrome 1 |
|
Central apnea, Hemifacial spasm, Ataxia, Episodic tachypnea, Oculomotor apraxia, Neonatal breathi... |
OMIM:213300 |
Cirrhosis, Familial |
|
Jaundice, Micronodular cirrhosis, Fulminant hepatitis, Biliary cirrhosis, Increased level of prop... |
OMIM:215600 |
Polymicrogyria With Optic Nerve Hypoplasia |
|
Seizure, Bilateral tonic-clonic seizure, Infantile spasms |
ORPHA:250972 |
Melkersson-Rosenthal Syndrome |
|
Fever, Abnormal autonomic nervous system physiology, Facial palsy |
ORPHA:2483 |
Renpenning Syndrome |
|
Mandibular prognathia, Diabetes mellitus, Hypospadias, Macrodontia, Cachexia, High, narrow palate... |
ORPHA:3242 |
Amelogenesis Imperfecta, Type Iv |
|
Amelogenesis imperfecta, Enamel hypoplasia, Taurodontia, Yellow-brown discoloration of the teeth |
OMIM:104510 |
Lessel-Kreienkamp Syndrome |
|
Thin upper lip vermilion, Open mouth, Dental malocclusion, Abnormal pattern of respiration |
OMIM:619149 |
Wolfram Syndrome |
|
Central apnea, Ataxia, Respiratory insufficiency, Seizure, Dementia, Polydipsia |
ORPHA:3463 |
Abnormal Hair, Joint Laxity, And Developmental Delay |
|
Mitral regurgitation, Tricuspid regurgitation, Recurrent fever, Sinus bradycardia |
OMIM:261990 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Hyperlipidemia, Portal fibrosis, ... |
ORPHA:369 |
Radio-Tartaglia Syndrome |
|
Thick eyebrow, Ataxia, Highly arched eyebrow, Long eyebrows, Tremor, Aggressive behavior, Synophr... |
OMIM:619312 |
Recessive Mitochondrial Ataxia Syndrome |
|
Impaired vibratory sensation, Ataxia, ST segment elevation, Dysmetria, Positive Romberg sign, Cog... |
ORPHA:94125 |
Chylomicron Retention Disease |
|
Impaired vibratory sensation, Failure to thrive, Decreased LDL cholesterol concentration, Steator... |
OMIM:246700 |
Zimmermann-Laband Syndrome |
|
Micrognathia, Supernumerary tooth, Gingival fibromatosis, Cleft palate, Growth delay, Macroglossi... |
ORPHA:3473 |
Borjeson-Forssman-Lehmann Syndrome |
|
Short stature, Obesity, Delayed puberty |
OMIM:301900 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Elevated hepatic transaminase, Hypertriglyceridemia, Elevated circulating C-reactive protein conc... |
ORPHA:158057 |
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Acute hyperammonemia, Cerebral palsy, Hyperammonemia, Opisthotonus, Hyperleucinemia, Lethargy, Fa... |
OMIM:210210 |
Megalocornea-Intellectual Disability Syndrome |
|
Ataxia, Micrognathia, Everted lower lip vermilion, High palate, Short philtrum, Hypercholesterole... |
ORPHA:2479 |
Wolfram Syndrome, Mitochondrial Form |
|
Optic atrophy, Abnormal autonomic nervous system physiology |
OMIM:598500 |
Larsen-Like Syndrome |
|
Malar flattening, Short stature, Cleft palate, Dental malocclusion |
OMIM:608545 |
3-Methylglutaconic Aciduria, Type Viib |
|
Respiratory distress, Rhizomelia, Ataxia, Tremor, Recurrent pneumonia, Opisthotonus, Choreoatheto... |
OMIM:616271 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Ataxia, Limb ataxia, Cardiomyopathy, Abnormal autonomic nervous system physiology, Truncal ataxia... |
OMIM:105210 |
Double Outlet Right Ventricle |
|
Failure to thrive, Tachypnea |
ORPHA:3426 |
Myopathy With Extrapyramidal Signs |
|
Extremely elevated creatine kinase, Hepatomegaly, Elevated hepatic transaminase, Tented upper lip... |
OMIM:615673 |
Insensitivity To Pain, Congenital, With Anhidrosis |
|
Postural hypotension with compensatory tachycardia, Abnormal autonomic nervous system physiology,... |
OMIM:256800 |
Japanese Encephalitis |
|
Respiratory distress, Dystonia, Bilateral tonic-clonic seizure, Weakness due to upper motor neuro... |
ORPHA:79139 |
Proximal 16P11.2 Microduplication Syndrome |
|
Sparse eyelashes, Short stature, Sparse eyebrow, Tremor, Seizure, Compulsive behaviors, Attention... |
ORPHA:370079 |
9Q31.1Q31.3 Microdeletion Syndrome |
|
Mandibular prognathia, Hypercholesterolemia, Overweight |
ORPHA:401923 |
Argininosuccinic Aciduria |
|
Dry hair, Brittle hair, Ataxia, Irritability, Lethargy, Failure to thrive, Trichorrhexis nodosa |
OMIM:207900 |
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome |
|
Tremor |
ORPHA:66633 |
Developmental And Epileptic Encephalopathy 2 |
|
Multifocal seizures, Generalized-onset seizure, Infantile spasms, Inability to walk, Seizure, Myo... |
OMIM:300672 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Failure to thrive, Tachypnea |
OMIM:615934 |
Ring Chromosome Y Syndrome |
|
Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral crypt... |
ORPHA:261529 |
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Obesity, Respiratory insufficiency |
OMIM:615633 |
Summitt Syndrome |
|
Camptodactyly of finger, Tall stature, Obesity |
ORPHA:3210 |
Non-Epidermolytic Palmoplantar Keratoderma |
|
Erythema, Skin ulcer |
ORPHA:2337 |
Classic Mycosis Fungoides |
|
Alopecia, Erythema, Skin ulcer, Dry skin, Abnormality of the nail |
ORPHA:2584 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Speech apraxia, Dystonia, Abnormal repetitive mannerisms, Choreoathetosis, Seizure, Impaired soci... |
ORPHA:261197 |
Filippi Syndrome |
|
Cryptorchidism, Thin vermilion border, Short philtrum, Hypodontia, Dystonia, Ambiguous genitalia,... |
OMIM:272440 |
Bardet-Biedl Syndrome 8 |
|
Obesity |
OMIM:615985 |
Double Outlet Left Ventricle |
|
Double outlet left ventricle, Failure to thrive, Ventricular septal defect, Cardiomegaly, Bicuspi... |
ORPHA:3427 |
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities |
|
Short attention span, Hyperactivity, Aggressive behavior, Postnatal growth retardation, Dysphoria... |
OMIM:620242 |
Hypophosphatasia, Infantile |
|
Intracranial hemorrhage, Fever, Apnea |
OMIM:241500 |
Short Syndrome |
|
Delayed eruption of teeth, Small for gestational age, Micrognathia, Dental malocclusion, Birth le... |
OMIM:269880 |
Atkin-Flaitz Syndrome |
|
Abnormality of the dentition, Obesity, Everted lower lip vermilion, Thick vermilion border, Macro... |
ORPHA:1193 |
Undifferentiated Pleomorphic Sarcoma |
|
Weight loss |
ORPHA:2023 |
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Multifocal seizures, Ataxia, Severe temper tantrums, Aggressive behavior, Tremor, Spastic tetrapl... |
OMIM:617710 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Apnea, Large for gestational age |
ORPHA:79644 |
Testicular Anomalies With Or Without Congenital Heart Disease |
|
Corpus cavernosum hypoplasia, Abnormality of thyroid physiology, Cryptorchidism, Testicular dysge... |
OMIM:615542 |
Hereditary Coproporphyria |
|
Fever, Tachycardia, Respiratory insufficiency |
ORPHA:79273 |
Spastic Paraplegia 9B, Autosomal Recessive |
|
Short stature, Tremor, Impaired distal vibration sensation, Babinski sign, Spastic paraplegia, Te... |
OMIM:616586 |
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Spinal rigidity, Hyperlordosis, Kyphosis, Short neck, Scoliosis, Frequent falls |
OMIM:300718 |
Hypercholesterolemia, Familial, 3 |
|
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia |
OMIM:603776 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Central apnea, Respiratory failure requiring assisted ventilation, Neonatal respiratory distress,... |
ORPHA:79345 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Generalized-onset seizure, Apnea, Respiratory insufficiency, Seizure, Cognitive impairment, Dysph... |
OMIM:617527 |
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Respiratory distress |
ORPHA:171703 |
Muenke Syndrome |
|
Malar flattening, High palate, Dental malocclusion |
OMIM:602849 |
Methylmalonic Aciduria, Cblb Type |
|
Methylmalonic acidemia, Hepatomegaly, Respiratory distress, Hyperammonemia, Hyperglycinemia, Leth... |
OMIM:251110 |
Multiple System Atrophy 1, Susceptibility To |
|
Bradykinesia, Orthostatic hypotension, Ataxia, Abnormal autonomic nervous system physiology |
OMIM:146500 |
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion |
|
Postnatal growth retardation, Intrauterine growth retardation, Obesity |
ORPHA:254525 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Kyphosis, Gait disturbance, Decreased testicular size |
ORPHA:1875 |
Snijders Blok-Campeau Syndrome |
|
Speech apraxia, Broad-based gait, Infantile spasms, Unsteady gait, Myoclonic seizure, Scoliosis, ... |
OMIM:618205 |
Beaulieu-Boycott-Innes Syndrome |
|
Carious teeth, Velopharyngeal insufficiency, Dental malocclusion, Micrognathia |
OMIM:613680 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Hypertension, Papilledema, Atrioventricular block |
ORPHA:371428 |
Lipodystrophy, Familial Partial, Type 5 |
|
Hepatomegaly, Hypertriglyceridemia, Hepatic steatosis, Increased C-peptide level |
OMIM:615238 |
Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Hypomethioninemia, Cleft palate, Elevated circulating palmitoleylcarnitine concentration, Hyperho... |
ORPHA:79284 |
Autosomal Recessive Ataxia, Beauce Type |
|
Impaired vibratory sensation, Lower limb spasticity, Ataxia, Kyphosis, Babinski sign, Dysmetria, ... |
ORPHA:88644 |
Anaplastic Thyroid Carcinoma |
|
Respiratory distress, Dyspnea, Vocal cord paralysis, Upper airway obstruction, Weight loss, Strid... |
ORPHA:142 |
Brachyolmia Type 1, Hobaek Type |
|
Back pain, Short neck, Kyphosis, Squared-off platyspondyly, Scoliosis, Intervertebral space narro... |
OMIM:271530 |
3-Methylglutaconic Aciduria, Type Viii |
|
Apnea, Hypopnea, Respiratory failure, Bradycardia, Respiratory arrest |
OMIM:617248 |
Hyperoxaluria, Primary, Type I |
|
Optic neuropathy, Raynaud phenomenon, Arterial occlusion, Optic atrophy, Atrioventricular block, ... |
OMIM:259900 |
Cornelia De Lange Syndrome 5 |
|
Micrognathia, Cryptorchidism, Cleft palate, Downturned corners of mouth, Truncal obesity, Thin ve... |
OMIM:300882 |
Pneumocystosis |
|
Respiratory failure requiring assisted ventilation, Nonproductive cough, Dyspnea, Respiratory ins... |
ORPHA:723 |
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Tented upper lip vermilion, Ataxia, Tremor, Babinski sign, Narrow palate, Gait ataxia, Dysmetria,... |
OMIM:616505 |
Intellectual Developmental Disorder With Autism And Dysmorphic Facies |
|
Seizure, Attention deficit hyperactivity disorder, Compulsive behaviors, Scoliosis, Recurrent han... |
OMIM:620021 |
Isaacs Syndrome |
|
Fasciculations, Distal sensory impairment, Weight loss |
ORPHA:84142 |
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Respiratory distress, Restlessness, Bilateral tonic-clonic seizure, Infantile spasms, Seizure, Ir... |
ORPHA:544503 |
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Hyperglutaminemia, Low plasma citrulline, Jaundice, Tachypnea, Hyperammonemia, Hyperprolinemia, H... |
OMIM:615751 |
Wagr Syndrome |
|
Micrognathia, Cryptorchidism, Obesity, Dysfunction of lateral corticospinal tracts, Everted lower... |
ORPHA:893 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Apnea, Tachypnea, Oculomotor apraxia, Failure to thrive, Recurrent aspiration pneumonia, Chronic ... |
ORPHA:397715 |
Developmental And Epileptic Encephalopathy 18 |
|
Aortic regurgitation, Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset,... |
OMIM:615476 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Ataxia, Aggressive behavior, Chorea, Gait ataxia, Hypsarrhythmia, Irritability, Lethargy |
OMIM:618321 |
Machado-Joseph Disease |
|
Ataxia, Limb ataxia, Bradykinesia, Progressive cerebellar ataxia, Abnormal autonomic nervous syst... |
OMIM:109150 |
Glycine Encephalopathy With Normal Serum Glycine |
|
Exaggerated startle response, Apnea, Clonus, Respiratory failure, Hypertonia |
OMIM:617301 |
Hallermann-Streiff Syndrome |
|
Natal tooth, Small for gestational age, Selective tooth agenesis, Micrognathia, High, narrow pala... |
OMIM:234100 |
Pheochromocytoma/Paraganglioma Syndrome 6 |
|
Elevated circulating catecholamine level, Paraganglioma |
OMIM:618464 |
48,Xxxy Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of penis, Small scrotum, Abnormal de... |
ORPHA:96263 |
Free Sialic Acid Storage Disease |
|
Ataxia, Skin ulcer, Seizure, Athetosis, Gait disturbance |
ORPHA:834 |
Short Stature-Micrognathia Syndrome |
|
Small scrotum, Ataxia, Micrognathia, Cryptorchidism, Retrognathia, Cleft palate, Gait ataxia, Hig... |
OMIM:617164 |
Alstrom Syndrome |
|
Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertrigly... |
OMIM:203800 |
Niemann-Pick Disease Type C |
|
Generalized-onset seizure, Progressive neurologic deterioration, Tremor, Chorea, Abnormal pyramid... |
ORPHA:646 |
Myopathy, Mitochondrial, And Ataxia |
|
Mandibular prognathia, Ataxia, Elevated circulating creatine kinase concentration, Micrognathia, ... |
OMIM:617675 |
Medulloblastoma |
|
Ataxia, Dysmetria, Progressive cerebellar ataxia, Irritability, Cognitive impairment, Lethargy, C... |
ORPHA:616 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Cholangiocarcinoma, Portal hypertension, Hepatocellular carcinoma, Increased circul... |
ORPHA:465508 |
Clark-Baraitser Syndrome |
|
Hyperactivity, Obesity, Aggressive behavior |
OMIM:617752 |
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome |
|
Tooth agenesis, Cryptorchidism, Non-midline cleft lip, Cleft palate |
ORPHA:1074 |
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Exaggerated startle response, Inability to walk, Depression, Thick vermilion border, Macrodontia ... |
OMIM:620114 |
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Incoordination, Ataxia, Tremor, Cryptorchidism, Abnormal pyramidal sign, Eyelid myoclonus, Seizur... |
OMIM:618060 |
Cherubism |
|
Jaw swelling, Dental malocclusion, Alveolar ridge overgrowth, Narrow palate, Oligodontia, Multipl... |
OMIM:118400 |
Transcobalamin Ii Deficiency |
|
Lethargy, Failure to thrive, Ataxia, Irritability |
OMIM:275350 |
Retinal Dystrophy And Obesity |
|
Obesity |
OMIM:616188 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1 |
|
Class III obesity |
OMIM:616418 |
Porphyria Variegata |
|
Hypertension, Tachycardia, Abnormal autonomic nervous system physiology |
ORPHA:79473 |
American Trypanosomiasis |
|
Fever, Aganglionic megacolon, Myocarditis, Congestive heart failure, Cardiomyopathy, Arrhythmia |
ORPHA:3386 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Impulsivity, Aggressive behavior, Scoliosis, Apraxia, Attention deficit hyperactiv... |
OMIM:620141 |
Gm2-Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Spastic tetraparesis, Paralysis, Chorea, Abnormal pyramidal sign, H... |
OMIM:272750 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Thin upper lip vermilion, Short stature, Dental crowding, Pierre-Robin sequence, Anterior open-bi... |
OMIM:617877 |
Thymic Carcinoma |
|
Neoplasm of the thymus, Dyspnea, Diaphragmatic paralysis, Weight loss, Fatigable weakness, Cough |
ORPHA:99868 |
Myopathy, Centronuclear, X-Linked |
|
Elevated hepatic transaminase, Respiratory failure requiring assisted ventilation, Neonatal respi... |
OMIM:310400 |
Congenital Insensitivity To Pain With Severe Intellectual Disability |
|
Pain insensitivity, Bilateral tonic-clonic seizure, Small for gestational age, Impaired tactile s... |
ORPHA:453510 |
Stiff-Person Syndrome |
|
Fever, Hypertension, Tachycardia |
OMIM:184850 |
Impaired Intellectual Development, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies |
|
Obesity |
OMIM:606772 |
Pseudohypoparathyroidism Type 1A |
|
Prolonged QT interval, Confusion, Dyspnea, Obesity, Depression, Choreoathetosis, Hypertension, Ir... |
ORPHA:79443 |
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Ataxia, Truncal titubation, Kyphosis, Impaired vibration sensation in the lower limbs, Impaired p... |
ORPHA:88628 |
Sialidosis Type 2 |
|
Ataxia, Short stature, Tremor, Dyspnea, Seizure |
ORPHA:87876 |
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Downturned corners of mouth, Gait disturbance, Cachexia, Micrognathia |
ORPHA:2774 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Respiratory distress, Short attention span, Apnea, Aggressive behavior, Unsteady gait, Choreoathe... |
ORPHA:17 |
Wound Botulism |
|
Fever, Cardiac arrest |
ORPHA:178475 |
Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment |
|
Sacral dimple, Unsteady gait, Pica, Seizure, Spasticity, Recurrent hand flapping, Limb hypertonia |
OMIM:618480 |
Sandhoff Disease, Infantile Form |
|
Bilateral tonic-clonic seizure, Myoclonic seizure, Hepatosplenomegaly, Seizure, Mitral valve prol... |
ORPHA:309155 |
Galloway-Mowat Syndrome 7 |
|
Micrognathia, Cleft lip, Cleft palate, High palate, Hypercholesterolemia, Smooth philtrum |
OMIM:618348 |
Houge-Janssens Syndrome 3 |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset seiz... |
OMIM:618354 |
Lipodystrophy, Familial Partial, Type 3 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hyperuricemia, Cirrhosis, Hepatic ... |
OMIM:604367 |
New-Onset Refractory Status Epilepticus |
|
Seizure precipitated by febrile infection, Confusion, Bilateral tonic-clonic seizure with focal o... |
ORPHA:363558 |
Immunodeficiency 95 |
|
Respiratory distress, Respiratory failure, Recurrent viral pneumonia |
OMIM:619773 |
Angelman Syndrome |
|
Mandibular prognathia, Broad-based gait, Ataxia, Protruding tongue, Hypoplasia of the maxilla, Ob... |
OMIM:105830 |
Erythrokeratodermia Variabilis |
|
Diabetes mellitus, Protruding ear, Weight loss, Abnormal testis morphology, Hearing impairment |
ORPHA:317 |
Infantile Refsum Disease |
|
Ataxia, Facial palsy, Optic atrophy, Cardiomyopathy, Arrhythmia |
ORPHA:772 |
Leukodystrophy, Hypomyelinating, 12 |
|
Temperature instability, Optic atrophy, Abnormal autonomic nervous system physiology |
OMIM:616683 |
Evans Syndrome |
|
Dyspnea, Lethargy, Jaundice, Epistaxis |
ORPHA:1959 |
Metachromatic Leukodystrophy, Late Infantile Form |
|
Babinski sign, Spasticity, Gait ataxia, Clumsiness, Seizure, Progressive gait ataxia, Tip-toe gai... |
ORPHA:309256 |
Isochromosomy Yq |
|
Male infertility, Azoospermia, Decreased testicular size |
ORPHA:98798 |
Cholestasis-Lymphedema Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Hyperli... |
OMIM:214900 |
Hypercholesterolemia, Familial, 2 |
|
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia |
OMIM:144010 |
Joubert Syndrome With Hepatic Defect |
|
Apnea, Ataxia, Seizure, Gait disturbance, Abnormal pattern of respiration |
ORPHA:1454 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine ... |
ORPHA:79240 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Abnormality of upper lip vermillion, Dental crowding, Micrognathia, Postnatal growth retardation,... |
ORPHA:251028 |
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome |
|
Hyperactivity, Obesity |
ORPHA:397973 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Exaggerated startle response |
OMIM:617028 |
Intermediate Nemaline Myopathy |
|
Hypokinesia, Difficulty walking, Dysphagia |
ORPHA:171433 |
Alg11-Cdg |
|
Ataxia, EEG with burst suppression, Opisthotonus, Seizure, Failure to thrive, Hypokinesia |
ORPHA:280071 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Waddling gait, Respiratory distress, Dyspnea, Difficulty walking, Cough |
ORPHA:86812 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
|
Bradykinesia, Hypokinesia |
OMIM:619063 |
Autosomal Dominant Spastic Paraplegia Type 9A |
|
Tremor, Babinski sign, Impaired vibration sensation in the lower limbs, Abnormal pyramidal sign, ... |
ORPHA:447753 |
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak |
|
Hand tremor, Periodic paralysis |
OMIM:609153 |
Arthrogryposis Multiplex Congenita 5 |
|
Dystonia, Akinesia, Hand tremor |
OMIM:618947 |
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Hypertrophic cardiomyopathy, Tachycardia, Exertional dyspnea |
ORPHA:368 |
Dermatofibrosarcoma Protuberans |
|
Erythema, Skin ulcer |
ORPHA:31112 |
X-Linked Intellectual Disability-Cubitus Valgus-Dysmorphism Syndrome |
|
Truncal obesity, Short stature |
ORPHA:85280 |
Endocardial Fibroelastosis |
|
Low-set, posteriorly rotated ears, Hypoplasia of penis, Micrognathia, Cryptorchidism, Abnormal he... |
ORPHA:2022 |
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities |
|
Thin upper lip vermilion, Ataxia, Carious teeth, Obesity, Protruding ear, Large earlobe, High pal... |
OMIM:620191 |
Charcot-Marie-Tooth Disease And Deafness |
|
Tremor, Steppage gait, Gait disturbance, Distal sensory impairment |
OMIM:118300 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Mandibular prognathia, Delayed eruption of teeth, Mild postnatal growth retardation, Short statur... |
OMIM:101800 |
X-Linked Intellectual Disability, Pai Type |
|
Cryptorchidism, Spastic tetraplegia, Protruding ear, Hydrocele testis, Hypertonia, Gait disturban... |
ORPHA:85322 |
Oliver-Mcfarlane Syndrome |
|
Hypoplasia of penis, Small for gestational age, Decreased response to growth hormone stimulation ... |
OMIM:275400 |
Chédiak-Higashi Syndrome |
|
Tremor, Periodontitis, Hyponatremia, Ataxia, Parkinsonism, Hepatosplenomegaly, Gait disturbance, ... |
ORPHA:167 |
Lynch Syndrome |
|
Hemiplegia/hemiparesis, Abnormal pyramidal sign, Depression, Weight loss, Seizure, Irritability, ... |
ORPHA:144 |
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome |
|
Short stature, Obesity |
ORPHA:2233 |
X-Linked Intellectual Disability, Cabezas Type |
|
Broad-based gait, Hypoplasia of penis, Cachexia, Tremor, Open bite, Thick lower lip vermilion, Ob... |
ORPHA:85293 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Advanced eruption of teeth, Hepatic steatosis, ... |
ORPHA:2348 |
Chromosome 1P35 Deletion Syndrome |
|
Thin upper lip vermilion, Ataxia, Posteriorly rotated ears, Micrognathia, Cryptorchidism, Narrow ... |
OMIM:617930 |
X-Linked Centronuclear Myopathy |
|
Respiratory distress, Inability to walk, Respiratory failure requiring assisted ventilation, Pneu... |
ORPHA:596 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Cryptorchidism, Sensorineural hearing impairment, Hyperinsulinemi... |
ORPHA:3085 |
Methylcobalamin Deficiency Type Cble |
|
Hypomethioninemia, Hyperhomocystinemia, Lower limb hypertonia, Abnormality of the liver, Lethargy... |
ORPHA:2169 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Hepatomegaly, Respiratory failure, Tongue fasciculations, Myoclonus, Decreased liver function, Le... |
OMIM:614922 |
Hec Syndrome |
|
Cardiomyopathy, Arrhythmia |
ORPHA:2119 |
Aredyld Syndrome |
|
Mandibular prognathia, Craniofacial hyperostosis, Short stature, Abnormal dental enamel morpholog... |
ORPHA:1133 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Cardiomyopathy, Arrhythmia, Optic atrophy, Ataxia |
OMIM:249270 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Neonatal respiratory distress, Small for gestational age, Ventricular septal defect, Bilateral to... |
ORPHA:79243 |
Joubert Syndrome 21 |
|
Apnea, Ataxia, Dyspnea, Seizure, Respiratory failure, Dysphagia, Chronic sinusitis |
OMIM:615636 |
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Delayed eruption of teeth, Natal tooth, Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ... |
OMIM:614381 |
Cardiac Valvular Dysplasia 2 |
|
Aortic regurgitation, Increased left ventricular end-diastolic volume, Tricuspid regurgitation, L... |
OMIM:620067 |
Intellectual Developmental Disorder, X-Linked, Syndromic 11 |
|
Obesity |
OMIM:300238 |
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of pubertal developmen... |
OMIM:614840 |
Ciliary Dyskinesia, Primary, 50 |
|
Male infertility, Reduced progressive sperm motility, Coiled sperm flagella, Short sperm flagella... |
OMIM:620356 |
Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Delayed eruption of teeth, Abnormality of the philtrum, Micrognathia, Cryptorchidism, Tooth agene... |
ORPHA:2863 |
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Mandibular prognathia, Exaggerated startle response, Inability to walk, Chorea, Spastic tetrapleg... |
OMIM:617864 |
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Hyperactivity, Kyphoscoliosis, Aggressive behavior, Synophrys, Irritability, Scoliosis, Abnormal ... |
ORPHA:391307 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Tremor, Fasciculations, Dysphagia |
OMIM:313200 |
Joubert Syndrome 32 |
|
Oculomotor apraxia, Ataxia, Tall stature, Large for gestational age |
OMIM:617757 |
Leukodystrophy, Hypomyelinating, 13 |
|
Lower limb spasticity, Exaggerated startle response, Ataxia, Clonus, Hypertonia, Spasticity, Fail... |
OMIM:616881 |
Marbach-Schaaf Neurodevelopmental Syndrome |
|
Torticollis, Hemidystonia, Aggressive behavior, Tremor, Obesity, Attention deficit hyperactivity ... |
OMIM:619680 |
Winchester Syndrome |
|
Kyphosis, Hirsutism |
OMIM:277950 |
Poliomyelitis |
|
Confusion, Abnormal motor nerve conduction velocity, Anorexia, Diminished movement, Inability to ... |
ORPHA:2912 |
Osteomesopyknosis |
|
Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:2777 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Tricuspid regurgitation, Myocardial infarction, Congestive heart failure, Hypertension, Mitral re... |
OMIM:614473 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Ataxia, Tremor, Depression, Seizure, Mental deterioration, Memory impairment |
ORPHA:79095 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Microvesicular hepatic steatosis, Tachypnea,... |
OMIM:618278 |
Bardet-Biedl Syndrome 2 |
|
Obesity |
OMIM:615981 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Central apnea, Respiratory failure, Respiratory insufficiency due to muscle weakness, Subdural he... |
OMIM:618291 |
Fanconi-Bickel Syndrome |
|
Hepatomegaly, Failure to thrive, Hypertriglyceridemia, Elevated circulating aspartate aminotransf... |
ORPHA:2088 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Spastic ataxia, Thoracic scoliosis, Torticollis, Kyphoscoliosis, Focal-onset seizure, Inability t... |
ORPHA:300570 |
Combined Oxidative Phosphorylation Deficiency 1 |
|
Seizure, Hypokinesia |
OMIM:609060 |
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Dystonia, Bilateral tonic-clonic seizure, Ataxia, Sparse eyebrow, Tetraplegia, Spasticity, Dyspha... |
ORPHA:496641 |
Microtriplication 11Q24.1 |
|
Speech apraxia, Hyperlipidemia, Obesity, Cleft palate, Irregularly spaced teeth, Hyperkinetic mov... |
ORPHA:289522 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Cerebellar dysplasia, Agenesis of cerebellar vermis, Hypoplasia of the pons, Cerebellar hypoplasi... |
OMIM:613153 |
Lysinuric Protein Intolerance |
|
Decreased HDL cholesterol concentration, Lethargy, Hepatomegaly, Abnormal circulating serine conc... |
ORPHA:470 |
Combined Oxidative Phosphorylation Deficiency 27 |
|
Bilateral tonic-clonic seizure, Chorea, Status epilepticus, Myoclonus, Mental deterioration, Fail... |
OMIM:616672 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Aggressive behavior, Tremor, Kyphosis, Synophrys, Gait ataxia, Seizure, Scoliosis, Compulsive beh... |
ORPHA:476126 |
Bilateral Perisylvian Polymicrogyria |
|
Apnea, Infantile spasms, Focal-onset seizure, Dysmetria, Seizure, Pseudobulbar paralysis, Dysphag... |
ORPHA:98889 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Persistence of primary teeth, Conical tooth, Dental malocclusion, Oligodontia, Microdontia, Malar... |
OMIM:618727 |
Hyperlysinemia |
|
Short attention span, Hyperactivity, Neck hypertonia, Short stature, Poor motor coordination, Sim... |
ORPHA:2203 |
Reni Syndrome |
|
Hypertriglyceridemia, Hypoalbuminemia, Ataxia |
OMIM:617575 |
Familial Isolated Hypoparathyroidism |
|
Arrhythmia |
ORPHA:2238 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Seizure, Apnea |
OMIM:261680 |
Tetrasomy 12P |
|
Delayed eruption of teeth, Thin upper lip vermilion, Short stature, Cachexia, Abnormal soft palat... |
ORPHA:884 |
Marburg Hemorrhagic Fever |
|
Shock, Fever, Tachycardia, Pericarditis, Hypothermia, Nonproductive cough, Hypovolemia, Capillary... |
ORPHA:99826 |
Warburg Micro Syndrome 1 |
|
External genital hypoplasia, Micrognathia, Cryptorchidism, Macrotia, Spastic diplegia, Thin vermi... |
OMIM:600118 |
Atrial Septal Defect 1 |
|
Second degree atrioventricular block, Aortic valve stenosis |
OMIM:108800 |
Alexander Disease Type Ii |
|
Ataxia, Abnormal autonomic nervous system physiology |
ORPHA:363722 |
Cockayne Syndrome Type 1 |
|
Mandibular prognathia, Lower limb spasticity, Absent brainstem auditory responses, Ataxia, Delaye... |
ORPHA:90321 |
Ogden Syndrome |
|
Microretrognathia, Everted upper lip vermilion, Torticollis, High, narrow palate, Hypertonia, Shu... |
ORPHA:276432 |
Sandhoff Disease |
|
Hepatomegaly, Orthostatic hypotension, Bilateral tonic-clonic seizure, Ataxia, Cardiomegaly, Impa... |
OMIM:268800 |
Macrophage Activation Syndrome |
|
Hepatomegaly, Hypertriglyceridemia, Elevated circulating aspartate aminotransferase concentration... |
ORPHA:158061 |
Singleton-Merten Syndrome 2 |
|
Arrhythmia, Aortic valve stenosis |
OMIM:616298 |
Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Short stature, Obesity |
ORPHA:2183 |
Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Waddling gait, Kyphosis |
OMIM:618392 |
Relapsing Fever |
|
Fever, Tachycardia, Epistaxis, Hypotension, Cough |
ORPHA:91547 |
Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Hyperactivity, Lumbar hyperlordosis, Bilateral cryptorchidism, Cryptorchidism, Synophrys, Low ant... |
OMIM:617796 |
Developmental And Epileptic Encephalopathy 46 |
|
Generalized-onset seizure, Tremor, Seizure, Dysphagia, Failure to thrive, Limb hypertonia |
OMIM:617162 |
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Mandibular prognathia, Diabetes mellitus, Overweight, Oromotor apraxia, Retrognathia, Downturned ... |
ORPHA:391372 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Bronchiectasis |
OMIM:619705 |
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy |
|
Ataxia, Bilateral tonic-clonic seizure, Aggressive behavior, Inability to walk, Seizure, Irritabi... |
ORPHA:481152 |
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy |
|
Waddling gait, Elevated circulating creatine kinase concentration, Tremor, Shuffling gait, Fascic... |
ORPHA:209335 |
Tremor, Nystagmus, And Duodenal Ulcer |
|
Tremor, Kinetic tremor |
OMIM:190310 |
Kufor-Rakeb Syndrome |
|
Eyelid apraxia, Parkinsonism, Oculogyric crisis, Rigidity, Upper motor neuron dysfunction, Babins... |
ORPHA:306674 |
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Inability to walk, Seizure, Abnormal repetitive mannerisms |
OMIM:613443 |
Bardet-Biedl Syndrome 21 |
|
Overweight, Obesity |
OMIM:617406 |
8p23.1 deletion syndrome |
|
Hyperactivity |
DECIPHER:39 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Respiratory distress, Seizure, Bronchiectasis, Abnormal mucociliary clearance |
OMIM:619466 |
Familial Isolated Restrictive Cardiomyopathy |
|
Tricuspid regurgitation, Atrial fibrillation, Supraventricular arrhythmia, Abnormal left ventricu... |
ORPHA:75249 |
Developmental And Epileptic Encephalopathy 8 |
|
Overgrowth, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Tonic seizure |
OMIM:300607 |
Stuve-Wiedemann Syndrome 2 |
|
Respiratory distress, Intrauterine growth retardation, Pulmonary arterial hypertension, Dysphagia |
OMIM:619751 |
Adult-Onset Dystonia-Parkinsonism |
|
Eyelid apraxia, Dystonia, Tremor, Frontotemporal dementia, Rigidity, Parkinsonism with favorable ... |
ORPHA:199351 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy |
|
Focal-onset seizure, Inability to walk, Seizure, Long eyelashes, Status epilepticus, Dysphagia, A... |
OMIM:617802 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Incoordination, Ataxia, Bilateral tonic-clonic seizure with focal onset, Progressive neurologic d... |
OMIM:614947 |
Bilateral Polymicrogyria |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Infanti... |
ORPHA:268940 |
Zimmermann-Laband Syndrome 3 |
|
Thick hair, Kyphosis, Synophrys, Low anterior hairline, Long eyelashes, Facial hypertrichosis, Th... |
OMIM:618658 |
Bardet-Biedl Syndrome 9 |
|
Truncal obesity, Polydipsia, Polyphagia, Obesity |
OMIM:615986 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Abnormality of the dentition, Carious teeth, Thin lower lip vermilion, Velopharyngeal insufficien... |
ORPHA:363444 |
Familial Colorectal Cancer Type X |
|
Hemiplegia/hemiparesis, Abnormal pyramidal sign, Depression, Weight loss, Seizure, Irritability, ... |
ORPHA:440437 |
Congenital Gerbode Defect |
|
Fever, Elevated right atrial pressure, Tricuspid regurgitation, Left-to-right shunt, Right ventri... |
ORPHA:99095 |
Trichotillomania |
|
Hair-pulling, Alopecia, Compulsive behaviors |
OMIM:613229 |
Glutaryl-Coa Dehydrogenase Deficiency |
|
Limb dystonia, Dystonia, Ataxia, Poor motor coordination, Infantile spasms, Tremor, Rigidity, Cho... |
ORPHA:25 |
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome |
|
Micrognathia, Carious teeth, Supernumerary tooth, Abnormal antihelix morphology, Hypoplasia of th... |
ORPHA:3145 |
Microcephaly, Epilepsy, And Diabetes Syndrome 2 |
|
Small for gestational age, Bilateral tonic-clonic seizure |
OMIM:619278 |
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome |
|
Speech apraxia, Thin upper lip vermilion, Unilateral cryptorchidism, Large for gestational age, T... |
ORPHA:137634 |
Xeroderma Pigmentosum, Complementation Group F |
|
Ataxia, Short stature, Tremor, Dementia, Decreased body weight |
OMIM:278760 |
Unilateral Polymicrogyria |
|
Apnea, Epistaxis, Infantile spasms, Focal-onset seizure, Seizure, Pseudobulbar paralysis, Status ... |
ORPHA:268943 |
Weaver Syndrome |
|
Low-set, posteriorly rotated ears, Hypoplasia of penis, Micrognathia, Cryptorchidism, Deep philtr... |
ORPHA:3447 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Respiratory distress, Hepatomegaly, Respiratory failure requiring assisted ventilation, Cardiomeg... |
ORPHA:308552 |
Lysosomal Acid Lipase Deficiency |
|
Hyponatremia, Elevated hepatic transaminase, Fatal liver failure in infancy, Hypertriglyceridemia... |
ORPHA:275761 |
Sialidosis Type 1 |
|
Ataxia, Tremor, Kyphosis, Slurred speech, Abnormal form of the vertebral bodies, Seizure, Gait di... |
ORPHA:812 |
Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection |
|
Pyoderma gangrenosum |
OMIM:619986 |
Developmental And Epileptic Encephalopathy 100 |
|
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Focal-onset seizure, Synophrys, ... |
OMIM:619777 |
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features |
|
Broad-based gait, Hyperactivity, Ataxia, Highly arched eyebrow, Unsteady gait, Pica, Tongue thrus... |
OMIM:617865 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Respiratory distress, Thin upper lip vermilion, Small for gestational age, Recurrent pneumonia, S... |
OMIM:607143 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Intrahepatic biliary dysgenesis, Hepatomegaly, Small for gestational age, Elevated circulating as... |
OMIM:614866 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hepatomegaly, Failure to thrive, Hypertriglyceridemia, Epistaxis, Carious teeth, Hyperlipidemia, ... |
ORPHA:79259 |
Plaa-Associated Neurodevelopmental Disorder |
|
Exaggerated startle response, Apnea, Rigidity, Respiratory insufficiency, Progressive spastic qua... |
ORPHA:521426 |
Spermatogenic Failure 38 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility, Tapered sperm h... |
OMIM:618433 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Sclerotic vertebral body, Ataxia, Rigidity, Kyphosis, Focal-onset seizure, Spastic tetraplegia, S... |
OMIM:618476 |
Juvenile Hyaline Fibromatosis |
|
Abnormal hair morphology, Skin ulcer |
ORPHA:2028 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Tremor, Decreased serum creatinine, Failure to thrive, Hypohomocysteinemia, Hypocystinemia |
OMIM:617744 |
Retinitis Pigmentosa |
|
Hypoplasia of penis, Sensorineural hearing impairment, Hyperinsulinemia, Obesity, Hypogonadism, T... |
ORPHA:791 |
Metachromatic Leukodystrophy, Juvenile Form |
|
Babinski sign, Spasticity, Clumsiness, Seizure, Progressive gait ataxia, Decerebrate rigidity, Dy... |
ORPHA:309263 |
Alazami Syndrome |
|
Abnormal eating behavior, Sparse eyebrow, Seizure, Scoliosis, Abnormal repetitive mannerisms, Sel... |
ORPHA:319671 |
Spinocerebellar Ataxia Type 42 |
|
Resting tremor, Upper limb postural tremor, Unsteady gait, Babinski sign, Dysphagia, Gait ataxia,... |
ORPHA:458803 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Hyperactivity, Small for gestational age, Short stature, Postnatal growth retardation, Truncal ob... |
ORPHA:73272 |
Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest |
OMIM:309120 |
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language |
|
Generalized-onset seizure, Sparse eyebrow, Seizure, Self-injurious behavior, Dystonia, Recurrent ... |
OMIM:617268 |
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Severe failure to thrive, Spastic tetraplegia, Cachexia |
ORPHA:371364 |
Oculopharyngodistal Myopathy 1 |
|
Respiratory distress, Ataxia, Hypercapnia, Reduced forced vital capacity, Respiratory insufficien... |
OMIM:164310 |
Kleine-Levin Syndrome |
|
Abnormal eating behavior, Repetitive compulsive behavior, Hypersexuality, Sweet craving, Slurred ... |
ORPHA:33543 |
Lcat Deficiency |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
ORPHA:650 |
Parkinson Disease 8, Autosomal Dominant |
|
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Parkinsonism with favorable response to dop... |
OMIM:607060 |
Graves Disease, Susceptibility To, 1 |
|
Decreased thyroid-stimulating hormone level, Increased circulating free T4 concentration, Increas... |
OMIM:275000 |
Inhalational Anthrax |
|
Respiratory distress, Fever, Dyspnea, Hypotension, Internal hemorrhage |
ORPHA:247257 |
Spinal Muscular Atrophy, X-Linked 2 |
|
Hypospadias, Micrognathia, Respiratory insufficiency due to muscle weakness, Cryptorchidism, Resp... |
OMIM:301830 |
Thymic Neuroendocrine Tumor |
|
Pituitary null cell adenoma, Pancreatic islet cell adenoma, Neoplasm of the thymus, Pituitary ade... |
ORPHA:97289 |
Familial Multiple Nevi Flammei |
|
Intracranial hemorrhage, Arrhythmia, Abnormal cranial nerve morphology, Pulmonary embolism |
ORPHA:624 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1 |
|
Restlessness, Torticollis, Ataxia, Tremor, Rigidity, Myoclonic seizure, Seizure, Irritability, Br... |
OMIM:617186 |
Rh Deficiency Syndrome |
|
Hypoxemia, Tachypnea |
ORPHA:71275 |
Familial Glucocorticoid Deficiency |
|
Decreased circulating dehydroepiandrosterone concentration, Decreased circulating cortisol level,... |
ORPHA:361 |
Congenital Factor Xii Deficiency |
|
Penetrating foot ulcers |
ORPHA:330 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Hypospadias, Spastic tetraparesis, Micrognathia, Cryptorchidism, Obesity, Hypertonia, Thin vermil... |
ORPHA:171839 |
Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Crackles, Diffuse alveolar hemorrhage, Cardiomegaly, Dyspnea, Heart murmur, Hepatos... |
ORPHA:99931 |
Pheochromocytoma/Paraganglioma Syndrome 1 |
|
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma |
OMIM:168000 |
Galloway-Mowat Syndrome 6 |
|
Short stature, Growth delay, Decreased body weight, Intrauterine growth retardation, Abnormal rep... |
OMIM:618347 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type |
|
Hyperactivity, Cryptorchidism, Gait ataxia, Seizure, Low frustration tolerance, Spasticity, Abnor... |
OMIM:300486 |
X-Linked Intellectual Disability, Cilliers Type |
|
Hypergonadotropic hypogonadism, Hypospadias, Cryptorchidism, Increased circulating gonadotropin l... |
ORPHA:163971 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Methylmalonic acidemia, Hypomethioninemia, Tremor, Hyperhomocystinemia, Cystathioninemia, Abnorma... |
OMIM:277400 |
Fetal Minoxidil Syndrome |
|
Low-set, posteriorly rotated ears, Cryptorchidism, Micrognathia |
ORPHA:1918 |
Subacute Inflammatory Demyelinating Polyneuropathy |
|
Somatic sensory dysfunction, Tremor, Distal sensory impairment, Choreoathetosis, Steppage gait, G... |
ORPHA:206594 |
Metachromatic Leukodystrophy, Adult Form |
|
Chorea, Babinski sign, Spasticity, Clumsiness, Depression, Seizure, Progressive gait ataxia, Prog... |
ORPHA:309271 |
Akt2-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Hepatic steatosis |
ORPHA:79085 |
Hereditary Sensory And Autonomic Neuropathy Type 1 |
|
Inability to walk, Penetrating foot ulcers, Skin ulcer, Steppage gait, Gait imbalance |
ORPHA:36386 |
Schwartz-Jampel Syndrome |
|
Pursed lips, Apnea, Elevated circulating creatine kinase concentration, Cachexia, Micrognathia, T... |
ORPHA:800 |
Moebius Syndrome |
|
Respiratory distress, Poor coordination, Clumsiness, Dysdiadochokinesis, Gait disturbance, Dysphagia |
OMIM:157900 |
Intellectual Disability-Strabismus Syndrome |
|
Decreased serum insulin-like growth factor 1, Hypospadias, Decreased response to growth hormone s... |
ORPHA:363528 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Hypopigmentation of hair, Impulsivity, Impaired temperature sensation, Increased body weight, Abd... |
ORPHA:398069 |
Acrogeria |
|
Excessive wrinkled skin, Skin ulcer, Fine hair |
ORPHA:2500 |
Amish Nemaline Myopathy |
|
Tremor, Respiratory insufficiency due to muscle weakness |
ORPHA:98902 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Cachexia, Weight loss |
ORPHA:298 |
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of |
|
Lethargy, Failure to thrive, Ataxia |
OMIM:201470 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Crackles, Dyspnea, Nonproductive cough, Wheezing, Asthma, Weight loss, Hypoxemia, Restrictive ven... |
ORPHA:2902 |
Clark-Baraitser syndrome |
|
Exaggerated median tongue furrow, Thick lower lip vermilion, Obesity, Prominent median palatal ra... |
OMIM:300602 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2 |
|
Inability to walk, Cryptorchidism, Respiratory insufficiency, Macroglossia, Micropenis, Open mouth |
OMIM:613156 |
Adrenocortical Carcinoma |
|
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... |
ORPHA:1501 |
20P12.3 Microdeletion Syndrome |
|
Wolff-Parkinson-White syndrome |
ORPHA:261295 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Postnatal growth retardation, Intrauterine growth retardation, Small for gestational age, Respira... |
OMIM:616733 |
Sarcoidosis |
|
Fever, Abnormal cardiac ventricular function, Portal hypertension, Hypothermia, Heart block, Dysp... |
ORPHA:797 |
Joubert Syndrome 8 |
|
Ataxia, Obesity, Hypertonia, Oculomotor apraxia, Hyperventilation |
OMIM:612291 |
Cystathioninuria |
|
Tremor |
ORPHA:212 |
Whipple Disease |
|
Ataxia, Cachexia, Abnormal pyramidal sign, Respiratory insufficiency, Myoclonus, Cough |
ORPHA:3452 |
Noonan Syndrome 4 |
|
Short stature, Large for gestational age, Dental malocclusion, Wide mouth, Thick vermilion border |
OMIM:610733 |
Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Pulmonary arterial hypertension, Tachypnea |
OMIM:613834 |
Srd5A3-Cdg |
|
Ataxia, Abnormal hair morphology, Kyphosis, Abnormal sacrum morphology, Seizure, Hypertrichosis |
ORPHA:324737 |
Fibrosis Of Extraocular Muscles, Congenital, 3C |
|
Kyphosis, Highly arched eyebrow |
OMIM:609384 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Vertebral fusion, Hyperlordosis, Kyphosis, Dysphagia, Tip-toe gait, Scoliosis, Difficulty walking... |
OMIM:606612 |
13Q12.3 Microdeletion Syndrome |
|
Hyperactivity, Short stature, Obesity, Intrauterine growth retardation, Failure to thrive, Self-m... |
ORPHA:412035 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4 |
|
Arrhythmia, Ventricular bigeminy, Left bundle branch block |
OMIM:610131 |
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities |
|
Arrhythmia |
OMIM:273400 |
Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Respiratory distress, Sparse hair, Intrauterine growth retardation, Failure to thrive, Aplasia/Hy... |
ORPHA:261304 |
Microphthalmia-Brain Atrophy Syndrome |
|
Generalized-onset seizure, Focal hyperkinetic seizure, Multifocal seizures, Tongue thrusting, Gen... |
ORPHA:77299 |
Mitochondrial Trifunctional Protein Deficiency 2 |
|
Tricuspid regurgitation, Bilateral tonic-clonic seizure, Elevated circulating aspartate aminotran... |
OMIM:620300 |
Immunodeficiency 47 |
|
Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Failure to thrive, Decreased circu... |
OMIM:300972 |
Spermatogenic Failure, X-Linked, 7 |
|
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... |
OMIM:301106 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Optic nerve hypoplasia, Lethargy, Bradycardia, Hypothermia |
ORPHA:226307 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Respiratory distress, Central apnea, Congestive heart failure, Respiratory failure, Pulmonary art... |
OMIM:616482 |
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features |
|
Incoordination, Supernumerary nipple, Impaired pain sensation, Gait ataxia, Abnormal repetitive m... |
OMIM:616579 |
X-Linked Intellectual Disability, Cantagrel Type |
|
Seizure, Abnormal repetitive mannerisms, Tetraparesis |
ORPHA:85277 |
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities |
|
Hyperactivity, Short stature, Obesity, Tall stature |
OMIM:618089 |
Isolated Complex I Deficiency |
|
Increased serum pyruvate, Hepatomegaly, Ataxia, Respiratory insufficiency, Lethargy, Failure to t... |
ORPHA:2609 |
Bacterial Toxic-Shock Syndrome |
|
Respiratory distress, Sinusitis, Tachypnea, Pneumonia |
ORPHA:36234 |
X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Pain insensitivity, Bilateral tonic-clonic seizure, Aggressive behavior, Seizure, Status epilepti... |
ORPHA:364028 |
Amelo-Onycho-Hypohidrotic Syndrome |
|
Delayed eruption of teeth, Abnormality of dental color, Abnormal dental morphology, Abnormal dent... |
ORPHA:1028 |
Classical-Like Ehlers-Danlos Syndrome Type 1 |
|
Gastrointestinal hemorrhage, Arrhythmia |
ORPHA:230839 |
Retinitis Pigmentosa 59 |
|
Cryptorchidism, Sensorineural hearing impairment, Micropenis, Spasticity, Failure to thrive |
OMIM:613861 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Exaggerated startle response, Inability to walk, Kyphosis, Babinski sign, Spastic paraplegia, Ank... |
OMIM:609541 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Male hypogonadism, Micropenis, Hypogonadotropic hypogonadism, Cryptorchidism, Absence of secondar... |
ORPHA:432 |
Resistance To Thyrotropin-Releasing Hormone Syndrome |
|
Overweight, Depression, Prolonged neonatal jaundice, Lethargy, Abnormal circulating thyroglobulin... |
ORPHA:99832 |
Fetal Akinesia Deformation Sequence 2 |
|
Tented upper lip vermilion, Micrognathia, Cryptorchidism, Cleft palate, Respiratory insufficiency... |
OMIM:618388 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Hypopigmentation of hair, Impaired temperature sensation, Obesity, Abdominal obesity, Abnormal te... |
ORPHA:398079 |
Tbck-Related Intellectual Disability Syndrome |
|
Asthma, Pulmonic stenosis, Hypothermia, Respiratory insufficiency |
ORPHA:488632 |
Mitochondrial Dna Depletion Syndrome 11 |
|
Arrhythmia, Dilated cardiomyopathy |
OMIM:615084 |
Absence Of The Pulmonary Artery |
|
Orthopnea, Abnormal EKG, Atrial flutter, Tachycardia, Atrial fibrillation, Dyspnea, Nonproductive... |
ORPHA:980 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Respiratory distress, Pneumothorax, Abnormal circulating ceruloplasmin concentration, Abnormal ci... |
OMIM:620306 |
Partial Atrioventricular Septal Defect |
|
Exercise-induced muscle fatigue |
ORPHA:1330 |
Ring Chromosome 10 Syndrome |
|
Cachexia |
ORPHA:1438 |
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Lumbar hyperlordosis, Abnormal location of the eyebrow, Ataxia, Dystonia, Repetitive compulsive b... |
ORPHA:522077 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Methylmalonic acidemia, Hypomethioninemia, Respiratory distress, Ataxia, Pulmonary embolism, Jaun... |
ORPHA:79282 |
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum |
|
Appendicular spasticity, Hearing impairment, Micrognathia, Narrow mouth, Macrotia, Obesity, Narro... |
OMIM:620250 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Abnormality of the liver, Hypertonia, Hepatomegaly, Abnormal blood inorganic cation concentration... |
ORPHA:309854 |
Nephrotic Syndrome, Type 2 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:600995 |
Mmep Syndrome |
|
Mandibular prognathia, Cryptorchidism, Median cleft lip, Orofacial cleft |
ORPHA:3434 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Hypercholesterolemia, Hypertriglyceridemia, Premature loss of permanent teeth |
OMIM:610644 |
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome |
|
Bilateral tonic-clonic seizure, Inability to walk, Seizure, Focal impaired awareness seizure, Fai... |
ORPHA:488613 |
Intellectual Developmental Disorder, Autosomal Dominant 26 |
|
Hyperactivity, Cerebral palsy, Highly arched eyebrow, Kyphosis, Hypertonia, Scoliosis, Thick eyebrow |
OMIM:615834 |
Complex Regional Pain Syndrome |
|
Dysesthesia, Somatic sensory dysfunction, Trophic changes related to pain, Allodynia |
ORPHA:83452 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Seizure, Congestive heart failure, Cardiomegaly |
OMIM:300886 |
Bardet-Biedl Syndrome 3 |
|
Obesity |
OMIM:600151 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Tremor, Chorea, Impaired distal vibration sensation, Abnormal pyramidal sign, Impaired propriocep... |
OMIM:606002 |
Cidec-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Hepatic steatosis, Pancreatitis |
ORPHA:435651 |
Mohr-Tranebjaerg Syndrome |
|
Tremor, Dysphagia, Dystonia, Mental deterioration, Spasticity |
OMIM:304700 |
Heart-Hand Syndrome Type 2 |
|
Arrhythmia |
ORPHA:1350 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Micrognathia, Cryptorchidism, Respiratory insufficiency, Cleft palate, Protruding ear, Tooth agen... |
ORPHA:1166 |
Chromosome 18Q Deletion Syndrome |
|
Mandibular prognathia, Decreased response to growth hormone stimulation test, Tremor, Chorea, Dow... |
OMIM:601808 |
Congenital Myopathy 17 |
|
Mandibular prognathia, Tented upper lip vermilion, Failure to thrive in infancy, Dental malocclus... |
OMIM:618975 |
Coffin-Siris Syndrome 6 |
|
Kyphoscoliosis, Seizure, Tics, Attention deficit hyperactivity disorder, Abnormal repetitive mann... |
OMIM:617808 |
Microcephalic Primordial Dwarfism, Montreal Type |
|
Abnormal hair quantity, Cryptorchidism, Kyphosis, Low posterior hairline, Premature graying of ha... |
ORPHA:2617 |
Pparg-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hyperuricemia, Cirrhosis, Hepatic steatosis, Pa... |
ORPHA:79083 |
Eisenmenger Syndrome |
|
Respiratory distress, Ventricular tachycardia, Supraventricular tachycardia, Tricuspid regurgitat... |
ORPHA:97214 |
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis |
|
Dilated cardiomyopathy, Ventricular tachycardia, Syncope |
OMIM:615821 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Decreased circulating cortisol level, Ambiguous genitalia, female, Increased circulating renin le... |
ORPHA:90791 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Kyphosis, Platyspondyly, Hypopigmentation of hair, Albinism |
ORPHA:2786 |
Chronic Thromboembolic Pulmonary Hypertension |
|
Reduced vital capacity, Cardiac shunt, Pulmonary embolism, Increased pulmonary vascular resistanc... |
ORPHA:70591 |
Congenital Fibrinogen Deficiency |
|
Fever, Tachycardia, Internal hemorrhage |
ORPHA:335 |
Dyskeratosis Congenita, Autosomal Recessive 6 |
|
Ataxia, Carious teeth, Premature loss of teeth, Failure to thrive, Oral leukoplakia |
OMIM:616353 |
Intellectual Developmental Disorder, Autosomal Dominant 51 |
|
Febrile seizure outside the age of 3 months to 6 years, Unilateral cryptorchidism, Aggressive beh... |
OMIM:617788 |
Narcolepsy 7 |
|
Cataplexy, Obesity |
OMIM:614250 |
Bronchial Neuroendocrine Tumor |
|
Pneumonia, Elevated circulating growth hormone concentration, Dyspnea, Nonproductive cough, Asthm... |
ORPHA:97287 |
Congenital Disorder Of Glycosylation, Type Iia |
|
Thick eyebrow, Thoracolumbar kyphoscoliosis, Short neck, Aggressive behavior, Unsteady gait, Ster... |
OMIM:212066 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Respiratory distress, Failure to thrive |
ORPHA:91130 |
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Mandibular prognathia, Micrognathia, Cryptorchidism, Gait ataxia, Delayed puberty, Spasticity, Sp... |
ORPHA:496790 |
Cockayne Syndrome |
|
Progressive gait ataxia, Hypertonia, Intention tremor, Hepatomegaly, Abnormal dental morphology, ... |
ORPHA:191 |
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Hypospadias, Large for gestational age, Cryptorchidism, Asthma, Wide mouth, Gait disturbance, Lon... |
ORPHA:457485 |
Idiopathic Pulmonary Arterial Hypertension |
|
Tricuspid regurgitation, Increased pulmonary vascular resistance, Congestive heart failure, Heart... |
ORPHA:275766 |
Wilson Disease |
|
Abnormality of the menstrual cycle, Increased body weight, Clumsiness, Weight loss, Difficulty wa... |
ORPHA:905 |
Beta-Mercaptolactate Cysteine Disulfiduria |
|
Umbilical hernia, Obesity |
ORPHA:1035 |
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities |
|
Bilateral tonic-clonic seizure, Aggressive behavior |
OMIM:616083 |
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant |
|
Malar flattening, Dental malocclusion, Micrognathia |
OMIM:608257 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6 |
|
Respiratory distress, Diaphragmatic paralysis, Paradoxical respiration, Frequent falls, Craniofac... |
OMIM:620011 |
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome |
|
Involuntary movements, Infantile spasms, Myoclonic seizure, Dysphagia, Spasticity, Abnormal repet... |
ORPHA:572013 |
Intellectual Developmental Disorder, Autosomal Dominant 42 |
|
Myoclonic seizure, Tonic seizure, Focal hemiclonic seizure, Seizure, Myoclonus, Febrile seizure (... |
OMIM:616973 |
Glycerol Kinase Deficiency |
|
Hypertriglyceridemia, Small for gestational age, Hyperglycerolemia, Chronic pancreatitis, Downtur... |
OMIM:307030 |
Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Self-injurious behavior, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms... |
OMIM:617044 |
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities |
|
Generalized-onset seizure, Ataxia, Thoracolumbar scoliosis, Hyperlordosis, Kyphosis, Synophrys, I... |
OMIM:618443 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Truncal obesity, Large for gestational age |
ORPHA:293964 |
Snijders Blok-Fisher Syndrome |
|
Cryptorchidism, Cupped ear, Opisthotonus, Choreoathetosis, Protruding ear, Spasticity |
OMIM:618604 |
17Q24.2 Microdeletion Syndrome |
|
Prolonged QT interval, Failure to thrive in infancy, Aggressive behavior, Truncal obesity, Pulmon... |
ORPHA:529962 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Microretrognathia, Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in inf... |
OMIM:619418 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Sinusitis, Hypertriglyceridemia, Splenomegaly, Failu... |
OMIM:617591 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hypothermia, Portal hypertension |
OMIM:251880 |
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome |
|
Obesity |
ORPHA:352530 |
Pseudopseudohypoparathyroidism |
|
Enamel hypoplasia, Obesity |
OMIM:612463 |
Spermatogenic Failure 77 |
|
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati... |
OMIM:620103 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Waddling gait, Kyphosis, Seizure |
OMIM:618138 |
Crimean-Congo Hemorrhagic Fever |
|
Fever, Bundle branch block, Tachycardia, Epistaxis, Diffuse alveolar hemorrhage, Hematemesis, Myo... |
ORPHA:99827 |
Oculopharyngodistal Myopathy 3 |
|
Tremor, Ataxia, Elevated circulating creatine kinase concentration |
OMIM:619473 |
Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Cachexia, Weight loss |
ORPHA:1979 |
Intellectual Developmental Disorder, X-Linked, Syndromic, 35 |
|
Mandibular prognathia, Microretrognathia, Thin upper lip vermilion, Ataxia, Hypospadias, Dental c... |
OMIM:300998 |
Developmental And Epileptic Encephalopathy 28 |
|
Seizure, Status epilepticus, Hypokinesia |
OMIM:616211 |
Mucopolysaccharidosis Type 1 |
|
Sinusitis, Apnea, Congestive heart failure, Cough, Hypertrophic cardiomyopathy |
ORPHA:579 |
Diffuse Alveolar Hemorrhage |
|
Respiratory failure requiring assisted ventilation, Dyspnea, Increased DLCO, Weight loss, Hypoxem... |
ORPHA:90060 |
Neurodevelopmental Disorder With Variable Motor And Language Impairment |
|
Dystonia, Ataxia, Involuntary movements, Inability to walk, Synophrys, Widow's peak, Chorea, Brux... |
OMIM:617804 |
Intrahepatic Cholestasis Of Pregnancy |
|
Elevated hepatic transaminase, Neonatal respiratory distress, Small for gestational age, Tremor, ... |
ORPHA:69665 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2 |
|
Microretrognathia, Small for gestational age, Ataxia, Hypospadias, Tremor, Cryptorchidism, Respir... |
OMIM:614052 |
Renal Hypoplasia, Bilateral |
|
Hyponatremia, Neonatal respiratory distress, Small for gestational age, Hyperkalemia, Lethargy, F... |
ORPHA:97362 |
Developmental Delay, Hypotonia, Musculoskeletal Defects, And Behavioral Abnormalities |
|
Mandibular prognathia, Thin upper lip vermilion, Cryptorchidism, Protruding ear, Wide mouth, Ever... |
OMIM:619595 |
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Athetos... |
ORPHA:79351 |
Cerebellar-Facial-Dental Syndrome |
|
Infancy onset short-trunk short stature, Severe short stature, Micrognathia, Dental malocclusion,... |
ORPHA:444072 |
Takenouchi-Kosaki Syndrome |
|
Thin upper lip vermilion, Ataxia, Dental malocclusion, Downturned corners of mouth, Wide mouth, S... |
OMIM:616737 |
Majeed Syndrome |
|
Cough, Failure to thrive, Cachexia, Weight loss |
ORPHA:77297 |
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques |
|
Alopecia, Abnormal fingernail morphology, Erythema, Skin ulcer, Seizure, Sparse hair |
ORPHA:659 |
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Epistaxis, Intracranial hemorrhage, Hypertension, Palpitations, Abnormal T-wave |
ORPHA:231625 |
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Cerebral palsy, Small for gestational age, Clonus, Cryptorchidism, Sensorineural hearing impairme... |
OMIM:619847 |
Hermansky-Pudlak Syndrome 10 |
|
Apnea, Focal myoclonic seizure, Bilateral tonic-clonic seizure |
OMIM:617050 |
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Eunuchoid habitus, Short stature, Obesity |
ORPHA:2234 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Hyperactivity, Aggressive behavior, Cryptorchidism, Synophrys, Self-biting, Seizure, Abnormal rep... |
ORPHA:3306 |
Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Sacral dimple, Hyperlordosis, Kyphosis, Synophrys, Low anterior hairline, Scoliosis, Compulsive b... |
OMIM:615761 |
Metachromatic Leukodystrophy |
|
Incoordination, Ataxia, Dystonia, Tremor, Seizure, Tip-toe gait, Gait disturbance, Dementia, Dece... |
ORPHA:512 |
Fragile X Syndrome |
|
Macroorchidism, postpubertal, Hyperactivity, Self-biting, Seizure, Scoliosis, Recurrent hand flap... |
OMIM:300624 |
Stt3B-Cdg |
|
Respiratory distress, Seizure, Failure to thrive, Intrauterine growth retardation |
ORPHA:370924 |
Oculocerebrorenal Syndrome Of Lowe |
|
Mandibular prognathia, Dental crowding, Hypoammonemia, Clonus, Micrognathia, Deep philtrum, Gingi... |
ORPHA:534 |
Mitochondrial Pyruvate Carrier Deficiency |
|
Respiratory distress, Seizure |
OMIM:614741 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Respiratory distress, Respiratory insufficiency, Tongue fasciculations, Cognitive impairment |
ORPHA:1145 |
Lipodystrophy, Familial Partial, Type 7 |
|
Hypertriglyceridemia, Small for gestational age, Clonus, Spontaneous pneumothorax, Babinski sign,... |
OMIM:606721 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Hepatomegaly, Failure to thrive, Ataxia, Apnea, Splenomegaly, Babinski sign, Respiratory insuffic... |
OMIM:252010 |
Cronkhite-Canada Syndrome |
|
Cachexia |
ORPHA:2930 |
3-Methylglutaconic Aciduria, Type Iv |
|
Cryptorchidism, Cerebellar dysplasia |
OMIM:250951 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Generalized-onset seizure, Postural tremor, Action tremor, Unsteady gait, Gait ataxia, Myoclonus,... |
OMIM:254900 |
Chronic Bilirubin Encephalopathy |
|
Central apnea, Cerebral palsy, Hypertonia |
ORPHA:529808 |
Anterior Cutaneous Nerve Entrapment Syndrome |
|
Somatic sensory dysfunction, Impaired tactile sensation, Hyperesthesia, Decreased body weight, Al... |
ORPHA:51890 |
Acute Bilirubin Encephalopathy |
|
Central apnea, Cerebral palsy, Hypertonia |
ORPHA:529799 |
Tremor-Ataxia-Central Hypomyelination Syndrome |
|
Ataxia, Optic atrophy, Autonomic bladder dysfunction, Dysmetria |
ORPHA:447896 |
Van Maldergem Syndrome 1 |
|
Irregular dentition, Tented upper lip vermilion, Micrognathia, Hypoplasia of the maxilla, Dental ... |
OMIM:601390 |
Imagawa-Matsumoto Syndrome |
|
Mandibular prognathia, Birth length greater than 97th percentile, Cryptorchidism, Overgrowth, Tal... |
OMIM:618786 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Mild short stature, Hyperactivity, Obesity, Intrauterine growth retardation |
OMIM:614613 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Increased circulating ferritin... |
ORPHA:540 |
Congenital Disorder Of Glycosylation, Type Ix |
|
Respiratory distress, Seizure, Failure to thrive, Intrauterine growth retardation |
OMIM:615597 |
Mccune-Albright Syndrome |
|
Dental malocclusion, Abnormal facial skeleton morphology, Hepatitis, Cholestasis, Hepatocellular ... |
ORPHA:562 |
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile |
|
Tremor, Respiratory insufficiency |
OMIM:605355 |
Fryns-Smeets-Thiry Syndrome |
|
Short stature, Cachexia, Micrognathia, Thick lower lip vermilion, Wide mouth, Downturned corners ... |
ORPHA:2058 |
Hemochromatosis, Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Splenomegaly, Congestive heart failure... |
OMIM:235200 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Respiratory distress, Ataxia, Respiratory insufficiency due to muscle weakness, Seizure, Respirat... |
OMIM:220110 |
Arima Syndrome |
|
Dyspnea, Tachypnea, Ataxia |
OMIM:243910 |
Juvenile Dermatomyositis |
|
Gastrointestinal hemorrhage, Bundle branch block, Pericarditis, Fever, Angina pectoris, Telangiec... |
ORPHA:93672 |
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Bilateral tonic-clonic seizure, Highly arched eyebrow, Short neck, Babinski sign, Low anterior ha... |
OMIM:615802 |
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Elevated hepatic transaminase, Lethargy, Hepatic steatosis, Hepatomegaly |
OMIM:201450 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Mandibular prognathia, Incoordination, Ataxia, Cryptorchidism, Downturned corners of mouth, Macro... |
ORPHA:369891 |
Subaortic Stenosis-Short Stature Syndrome |
|
Short stature, Obesity, Respiratory insufficiency |
ORPHA:3191 |
Indifference To Pain, Congenital, Autosomal Recessive |
|
Abnormal nerve conduction velocity, Abnormal autonomic nervous system physiology |
OMIM:243000 |
Down Syndrome |
|
Impaired pain sensation, Protruding tongue, Abnormality of the dentition, Conductive hearing impa... |
ORPHA:870 |
Phelan-Mcdermid Syndrome |
|
Broad-based gait, Micrognathia, Impaired pain sensation, Unsteady gait, Dental malocclusion, High... |
OMIM:606232 |
Chromosome 15Q11.2 Deletion Syndrome |
|
Ataxia, Clumsiness, Seizure, Compulsive behaviors, Impaired social interactions, Attention defici... |
OMIM:615656 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Calcinosis, Hepatomegaly, Dental crowding, Micrognathia, Hyperlipidemia, Hypoplasia of teeth, Hig... |
OMIM:248370 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive |
|
Respiratory distress, Severe short stature, Failure to thrive, Lymphocytic interstitial pneumonia |
OMIM:245590 |
X-Linked Intellectual Disability, Shashi Type |
|
Obesity |
ORPHA:85286 |
Nestor-Guillermo Progeria Syndrome |
|
Microretrognathia, Short stature, Dental crowding, Micrognathia, Dental malocclusion, Growth dela... |
OMIM:614008 |
Isovaleric Acidemia |
|
Lethargy |
OMIM:243500 |
Obesity Due To Congenital Leptin Deficiency |
|
Hypertriglyceridemia, Obesity |
ORPHA:66628 |
3P25.3 Microdeletion Syndrome |
|
Sacral dimple, Bilateral tonic-clonic seizure, Ataxia, Generalized non-motor (absence) seizure, S... |
ORPHA:435638 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Ataxia, Supernumerary nipple, Aggressive behavior, Unsteady gait, Seizure, Low frustration tolera... |
ORPHA:457279 |
Sjögren-Larsson Syndrome |
|
Kyphosis, Abnormal pyramidal sign, Spastic diplegia, Seizure, Scoliosis, Spasticity |
ORPHA:816 |
Simpson-Golabi-Behmel Syndrome |
|
Prolonged QT interval, Hepatomegaly, Atrial septal defect, Bundle branch block, Ventricular septa... |
ORPHA:373 |
Rhabdoid Tumor |
|
Cerebral palsy, Respiratory insufficiency, Weight loss, Irritability, Hemiplegia |
ORPHA:69077 |
Lissencephaly 9 With Complex Brainstem Malformation |
|
Bilateral tonic-clonic seizure, Infantile spasms, Myoclonic seizure, Seizure, Focal impaired awar... |
OMIM:618325 |
Lipe-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Hepatic steatosis, Elevated circulating creatine kinase conce... |
ORPHA:435660 |
Autosomal Dominant Centronuclear Myopathy |
|
Large for gestational age, Respiratory insufficiency due to muscle weakness, Neonatal asphyxia, C... |
ORPHA:169189 |
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome |
|
Thin upper lip vermilion, Diastema, Cryptorchidism, Macrotia, Unsteady gait, Protruding ear, Down... |
ORPHA:329224 |
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies |
|
Short stature, Obesity, Aggressive behavior |
OMIM:619056 |
Seizures-Scoliosis-Macrocephaly Syndrome |
|
Cryptorchidism, Broad-based gait, Long philtrum |
ORPHA:466926 |
Cataract-Intellectual Disability-Hypogonadism Syndrome |
|
Low-set, posteriorly rotated ears, Hypogonadotropic hypogonadism, Micrognathia, Cryptorchidism, F... |
ORPHA:1387 |
Refsum Disease, Classic |
|
Cardiomyopathy, Arrhythmia, Congestive heart failure |
OMIM:266500 |
Chromosome 5P13 Duplication Syndrome |
|
Low posterior hairline, Seizure, Self-injurious behavior, Compulsive behaviors, Scoliosis, Sparse... |
OMIM:613174 |
47,Xyy Syndrome |
|
Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Asthma, ... |
ORPHA:8 |
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome |
|
Speech apraxia, Seizure, Abnormal repetitive mannerisms, Thick eyebrow |
ORPHA:529965 |
Chromosome 3Pter-P25 Deletion Syndrome |
|
Thin upper lip vermilion, Small for gestational age, Micrognathia, Cryptorchidism, Overfolded hel... |
OMIM:613792 |
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Overweight, Thin upper lip vermilion, Moderate hearing impairment, Difficulty walking |
ORPHA:370010 |
Acrodermatitis Enteropathica |
|
Ridged nail, Abnormal eyebrow morphology, Alopecia, Anorexia, Paronychia, Erythema, Skin ulcer, R... |
ORPHA:37 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Respiratory distress, Seizure, Intrauterine growth retardation, Dysphagia |
ORPHA:89844 |
Neuropathy, Hereditary Sensory, Type Iic |
|
Acral ulceration |
OMIM:614213 |
Bardet-Biedl Syndrome 1 |
|
Decreased testicular size, Diabetes mellitus, Ataxia, Dental crowding, Nephrogenic diabetes insip... |
OMIM:209900 |
Aminopterin Syndrome Sine Aminopterin |
|
Posteriorly rotated ears, Micrognathia, Cryptorchidism, Cleft palate, Oligodontia, High palate, L... |
OMIM:600325 |
Lipodystrophy, Familial Partial, Type 6 |
|
Abdominal obesity, Lipodystrophy |
OMIM:615980 |
Cardiofaciocutaneous Syndrome 1 |
|
Micrognathia, Open bite, Abnormality of the dentition, Deep philtrum, Submucous cleft hard palate... |
OMIM:115150 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Broad-based gait, Diabetes mellitus, Ataxia, Cryptorchidism, Sensorineural hearing impairment, To... |
OMIM:616541 |
Celiac Disease, Susceptibility To, 1 |
|
Ataxia, Stomatitis, Thyroiditis, Weight loss, Infertility, Recurrent aphthous stomatitis, Delayed... |
OMIM:212750 |
Reticular Dysgenesis |
|
Failure to thrive, Aplasia/Hypoplasia of the thymus, Hearing impairment, Weight loss |
ORPHA:33355 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Bilateral tonic-clonic seizure, Failure to thrive in... |
ORPHA:79124 |
X-Linked Intellectual Disability, Seemanova Type |
|
Small for gestational age, Cryptorchidism, Macrotia, Hypogonadism, High palate, Progressive spast... |
ORPHA:85323 |
Pseudohypoparathyroidism, Type Ib |
|
Obesity |
OMIM:603233 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypertriglyceridemia, Obesity |
ORPHA:179494 |
Genetic Transient Congenital Hypothyroidism |
|
Lethargy, Hypothermia |
ORPHA:226316 |
Silver-Russell Syndrome |
|
Abnormality of male external genitalia, Low-set, posteriorly rotated ears, Failure to thrive in i... |
ORPHA:813 |
Acute Transverse Myelitis |
|
Fever, Orthostatic hypotension, Abnormality of temperature regulation, Subarachnoid hemorrhage, H... |
ORPHA:139417 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Ataxia, Short stature, Postnatal growth retardation, Tremor, Mental deterioration, Abnormal pyram... |
OMIM:612199 |
Cockayne Syndrome A |
|
Mandibular prognathia, Hepatomegaly, Ataxia, Delayed eruption of primary teeth, Carious teeth, Tr... |
OMIM:216400 |
Cockayne Syndrome B |
|
Mandibular prognathia, Hepatomegaly, Ataxia, Small for gestational age, Delayed eruption of prima... |
OMIM:133540 |
Hypothyroidism, Central, With Testicular Enlargement |
|
Overweight |
OMIM:300888 |
Oculopharyngodistal Myopathy 4 |
|
Tremor, High palate, Elevated circulating creatine kinase concentration, Postural tremor |
OMIM:619790 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Splenomegaly, Increased circulating ferritin concentration, Hypertriglyceridemia |
OMIM:618398 |
Gaisböck Syndrome |
|
Hypertriglyceridemia, Overweight, Splenomegaly, Dyspnea, Obesity, Hyperproteinemia, Increased cir... |
ORPHA:90041 |
Bethlem Myopathy 2 |
|
Kyphosis, Scoliosis |
OMIM:616471 |
Hyperkalemic Periodic Paralysis |
|
Congestive heart failure, Arrhythmia, Malignant hyperthermia |
ORPHA:682 |
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Cryptorchidism, Obesity, Absence of pubertal de... |
OMIM:610628 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Seizure, Apnea |
OMIM:214110 |
Optic Atrophy 11 |
|
Hyperactivity, Ataxia, Gait apraxia, Dysmetria, Seizure, Athetosis, Hyperkinetic movements, Stere... |
OMIM:617302 |
Usher Syndrome Type 2 |
|
Abnormality of dental color, Ataxia, Abnormal dental enamel morphology, Carious teeth, Sensorineu... |
ORPHA:231178 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Delayed eruption of teeth, Small for gestational age, Micrognathia, Carious teeth, Cryptorchidism... |
OMIM:214150 |
Hypomelanosis Of Ito |
|
Kyphosis, Alopecia, Seizure, Scoliosis |
OMIM:300337 |
Freeman-Sheldon Syndrome |
|
Abnormality of the dentition, Cryptorchidism, Narrow mouth, Long philtrum, Failure to thrive, Hea... |
ORPHA:2053 |
Intellectual Developmental Disorder, Autosomal Dominant 38 |
|
Ataxia, Infantile spasms, Aggressive behavior, Hair-pulling, Self-injurious behavior, Bruxism, Ab... |
OMIM:616393 |
Refsum Disease |
|
Heart block, Cardiomyopathy, Respiratory insufficiency |
ORPHA:773 |
Sheehan Syndrome |
|
Palpitations, Orthostatic hypotension, Bradycardia |
ORPHA:91355 |
Combined Oxidative Phosphorylation Deficiency 30 |
|
Respiratory distress, Failure to thrive |
OMIM:616974 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Failure to thrive, Conjugated ... |
OMIM:607765 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Back pain, Clonus, Clonic seizure, Synophrys, Abnormal curvature of the vertebral column, Hyperto... |
OMIM:619475 |
Epilepsy, Early-Onset, 2, With Or Without Developmental Delay |
|
Patent foramen ovale, Bilateral tonic-clonic seizure |
OMIM:618832 |
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
Short neck, Cryptorchidism, Seizure, Scoliosis, Attention deficit hyperactivity disorder, Febrile... |
OMIM:620073 |
Late-Onset Isolated Acth Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Hypercalcemia, Hyperkalemia, Hepatitis, Weigh... |
ORPHA:199299 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi... |
ORPHA:90793 |
Spondyloenchondrodysplasia |
|
Delayed eruption of teeth, Pneumonia, Chorea, Dental malocclusion, Hepatitis, Spasticity |
ORPHA:1855 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Obesity |
OMIM:601794 |
Distal Duplication 15Q |
|
Micrognathia, Cryptorchidism, Downturned corners of mouth, Hypertonia, High palate, Long philtrum... |
ORPHA:1707 |
Pilarowski-Bjornsson Syndrome |
|
Speech apraxia, Seizure, Long eyelashes, Abnormal repetitive mannerisms, Broad eyebrow |
OMIM:617682 |
Congenital Disorder Of Deglycosylation 1 |
|
Respiratory distress, Restlessness, Pain insensitivity, Involuntary movements, Oral-pharyngeal dy... |
OMIM:615273 |
Early Infantile Epileptic Encephalopathy |
|
Hyperactivity, Bilateral tonic-clonic seizure, Infantile spasms, Generalized clonic seizure, Foca... |
ORPHA:1934 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8 |
|
Kyphosis, Scoliosis, Hyperlordosis |
OMIM:600175 |
Developmental And Epileptic Encephalopathy 110 |
|
Pain insensitivity, Chorea, Generalized non-motor (absence) seizure, Bruxism, Focal impaired awar... |
OMIM:620149 |
Bardet-Biedl Syndrome 19 |
|
Obesity |
OMIM:615996 |
Congenital Disorder Of Glycosylation, Type Iu |
|
Seizure, Hypokinesia |
OMIM:615042 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Hyperactivity, Highly arched eyebrow, Synophrys, Seizure, Scoliosis, Abnormal repetitive mannerisms |
OMIM:617751 |
Riddle Syndrome |
|
Ataxia, Pneumonia, Neonatal asphyxia, Recurrent pneumonia, Weight loss, Clumsiness, Restrictive v... |
ORPHA:420741 |
5Q14.3 Microdeletion Syndrome |
|
Seizure, Abnormal repetitive mannerisms, Thick eyebrow |
ORPHA:228384 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Exaggerated startle response, Impaired vibration sensation in the lower limbs, Abnormality of ext... |
ORPHA:320406 |
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Broad-based gait, Anterior concavity of thoracic vertebrae, Limb ataxia, Self-injurious behavior,... |
OMIM:617101 |
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome |
|
Arrhythmia |
ORPHA:3201 |
Adult Polyglucosan Body Disease |
|
Gait disturbance, Ataxia, Skin ulcer |
ORPHA:206583 |
Lichen Planopilaris |
|
Alopecia, Onycholysis, Abnormal fingernail morphology, Skin ulcer |
ORPHA:525 |
Chromosome 16Q22 Deletion Syndrome |
|
Small for gestational age, Hypospadias, Posteriorly rotated ears, Micrognathia, Cryptorchidism, S... |
OMIM:614541 |
Retinitis Pigmentosa 51 |
|
Obesity |
OMIM:613464 |
Osteopathia Striata With Cranial Sclerosis |
|
Natal tooth, Paranasal sinus hypoplasia, Short stature, Dental crowding, Micrognathia, Cleft uppe... |
OMIM:300373 |
Kleefstra Syndrome 1 |
|
Mandibular prognathia, Natal tooth, U-Shaped upper lip vermilion, Hypospadias, Abnormal pinna mor... |
OMIM:610253 |
Familial Dysautonomia |
|
Orthostatic hypotension, Tachycardia, Ataxia, Optic atrophy, Malignant hyperthermia, Hypertension... |
ORPHA:1764 |
Pheochromocytoma |
|
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit... |
OMIM:171300 |
Luscan-Lumish Syndrome |
|
Short stature, Aggressive behavior, Obesity, Overgrowth, Polyphagia |
OMIM:616831 |
Hirschsprung Disease |
|
Short stature, Failure to thrive in infancy, Weight loss |
ORPHA:388 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Abdominal obesity, Increased body weight, Depression |
OMIM:615954 |
Rhizomelic Limb Shortening With Dysmorphic Features |
|
Rhizomelia, Obesity |
OMIM:618821 |
Sneddon Syndrome |
|
Tremor, Seizure, Impaired distal tactile sensation, Mental deterioration, Hemiplegia |
OMIM:182410 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Respiratory distress, Pneumonia, Dyspnea, Pneumothorax, Dilated cardiomyopathy, Stridor, Respirat... |
ORPHA:79404 |
Desmoplastic Small Round Cell Tumor |
|
Cachexia, Weight loss |
ORPHA:83469 |
Hamamy Syndrome |
|
Thin upper lip vermilion, Micrognathia, Dental malocclusion, Wide mouth, High palate, Everted low... |
OMIM:611174 |
Spermatogenic Failure 2 |
|
Male infertility, Non-obstructive azoospermia, Azoospermia, Oligozoospermia |
OMIM:108420 |
Nmda Receptor Encephalitis |
|
Generalized-onset seizure, Dystonia, Involuntary movements, Oculogyric crisis, Rigidity, Focal-on... |
ORPHA:217253 |
Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
Hemiplegia, Kyphosis, Gait disturbance, Scoliosis |
ORPHA:2181 |
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity |
|
Partial agenesis of the corpus callosum, Spastic paraplegia, Obesity, Lateral ventricle dilatatio... |
OMIM:617296 |
Semilobar Holoprosencephaly |
|
Central apnea, Median cleft lip, Abnormal central motor function, Abnormal pattern of respiration... |
ORPHA:220386 |
Alobar Holoprosencephaly |
|
Central apnea, Median cleft lip, Abnormal central motor function, Abnormal pattern of respiration... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Central apnea, Median cleft lip, Abnormal central motor function, Abnormal pattern of respiration... |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Central apnea, Median cleft lip, Abnormal central motor function, Abnormal pattern of respiration... |
ORPHA:93924 |
Leukoencephalopathy With Ataxia |
|
Action tremor, Limb ataxia, Gait ataxia |
OMIM:615651 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Orthostatic hypotension due to autonomic dysfunction, Hypothermia, Syncope, Difficulty walking, U... |
ORPHA:642 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Small for gestational age, Tachypnea, Respiratory insufficiency, Respiratory failure, Cough, Emph... |
OMIM:613658 |
Lambert-Eaton Myasthenic Syndrome |
|
Abnormal autonomic nervous system physiology, Orthostatic hypotension due to autonomic dysfunction |
ORPHA:43393 |
Triosephosphate Isomerase Deficiency |
|
Respiratory distress, Tremor, Respiratory insufficiency due to muscle weakness, Unsteady gait, Re... |
OMIM:615512 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Obesity |
ORPHA:363741 |
Parkinsonian-Pyramidal Syndrome |
|
Bradykinesia, Shuffling gait, Abnormal autonomic nervous system physiology |
ORPHA:171695 |
Adult Syndrome |
|
Sparse scalp hair, Alopecia, Absent nipple, Breast hypoplasia, Nail pits, Fine hair, Skin ulcer, ... |
ORPHA:978 |
Chromosome 14Q11-Q22 Deletion Syndrome |
|
Unilateral cryptorchidism, Anterior pituitary hypoplasia, Micrognathia, Bilateral cryptorchidism,... |
OMIM:613457 |
Robinow Syndrome |
|
Short stature, Dental crowding, Small for gestational age, Micrognathia, Persistence of primary t... |
ORPHA:97360 |
Spastic Paraplegia 51, Autosomal Recessive |
|
Overweight, Inability to walk, Babinski sign, Spastic paraplegia, Spastic tetraplegia, Wide mouth... |
OMIM:613744 |
Cerebral Amyloid Angiopathy, Itm2B-Related, 1 |
|
Tremor, Spasticity, Hypertonia, Rigidity |
OMIM:176500 |
Non-Functioning Paraganglioma |
|
Paraganglioma of head and neck, Pulsatile tinnitus, Tremor, Vocal cord paralysis, Weight loss, Pa... |
ORPHA:94080 |
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome |
|
Abnormality of the endocrine system, Cryptorchidism, Sensorineural hearing impairment, Obesity, P... |
ORPHA:464288 |
Spermatogenic Failure 15 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:616950 |
Short Syndrome |
|
Diabetes mellitus, Abnormal dental enamel morphology, Abnormality of the dentition, Abnormal zygo... |
ORPHA:3163 |
Severe Acute Respiratory Syndrome |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Hypoxemia, Acu... |
ORPHA:140896 |
X-Linked Intellectual Disability, Stevenson Type |
|
Obesity, Tall stature |
ORPHA:85325 |
Oliver Syndrome |
|
Mandibular prognathia, Dental malocclusion, High palate, Short philtrum, Intrauterine growth reta... |
ORPHA:2920 |
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Ataxia, Cryptorchidism, Wide mouth, Macroglossia, Everted lower lip vermilion, Low-set ears, Open... |
OMIM:616789 |
Pitt-Hopkins Syndrome |
|
Sacral dimple, Incoordination, Supernumerary nipple, Short neck, Cryptorchidism, Gait ataxia, Sei... |
OMIM:610954 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Hyperlipidemia, Jaundice, Biliary tract abnormal... |
ORPHA:1414 |
Van Maldergem Syndrome 2 |
|
Irregular dentition, Tented upper lip vermilion, Micrognathia, Hypoplasia of the maxilla, Dental ... |
OMIM:615546 |
Otofaciocervical Syndrome 2, With T-Cell Deficiency |
|
Microretrognathia, Carious teeth, Dental malocclusion |
OMIM:615560 |
Tay-Sachs Disease |
|
Aspiration, Exaggerated startle response, Hypertonia, Apathy |
OMIM:272800 |
Mucopolysaccharidosis Type 3 |
|
Ataxia, Optic atrophy, Atrioventricular block, Reduced left ventricular ejection fraction, Gait d... |
ORPHA:581 |
15Q24 Microdeletion Syndrome |
|
Small for gestational age, Decreased response to growth hormone stimulation test, Hypospadias, Ab... |
ORPHA:94065 |
Bainbridge-Ropers Syndrome |
|
Highly arched eyebrow, Inability to walk, Synophrys, Seizure, Hypertonia, Scoliosis, Recurrent ha... |
ORPHA:352577 |
Rheumatic Fever |
|
Fever, Pericarditis, Epistaxis, Myocarditis, Arrhythmia |
ORPHA:3099 |
Vps11-Related Autosomal Recessive Hypomyelinating Leukodystrophy |
|
Optic atrophy, Abnormal autonomic nervous system physiology |
ORPHA:466934 |
Mogs-Cdg |
|
Respiratory distress, Hypoventilation, Seizure, Apnea |
ORPHA:79330 |
Insulin-Like Growth Factor I Deficiency |
|
Short stature, Micrognathia, Postnatal growth retardation, Decreased body weight, Intrauterine gr... |
OMIM:608747 |
Zimmermann-Laband Syndrome 2 |
|
Thick eyebrow, Short neck, Kyphosis, Synophrys, Widow's peak, Long eyelashes, Hirsutism, Hypertri... |
OMIM:616455 |
Congenital Sialidosis Type 2 |
|
Hepatomegaly, Abnormal EKG, Ataxia, Dysmetria, Hepatosplenomegaly, Abnormal heart morphology, Sei... |
ORPHA:93400 |
Martin-Probst Syndrome |
|
Short stature, Micrognathia, Thick lower lip vermilion, Dental malocclusion, Wide mouth, Malar fl... |
OMIM:300519 |
7Q11.23 Microduplication Syndrome |
|
Thin upper lip vermilion, Short lingual frenulum, Micrognathia, Diastema, Unsteady gait, Dental m... |
ORPHA:96121 |
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome |
|
Reduced subcutaneous adipose tissue, Hand tremor, Dysmetria, Truncal obesity, Flexion contracture... |
ORPHA:3041 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Orthostatic hypotension, Tachycardia, Hypertension, Decreased sensitivity to hypoxemia, Recurrent... |
OMIM:223900 |
Glycine Encephalopathy |
|
EEG with burst suppression, Lethargy, EEG abnormality |
ORPHA:407 |
49,Xxxxy Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of penis, Small scrotum, Abnormal de... |
ORPHA:96264 |
Fg Syndrome Type 1 |
|
Broad-based gait, Hypospadias, Dental crowding, Malar flattening, Micrognathia, Cryptorchidism, S... |
ORPHA:93932 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Cardiac arrest, Dilated cardiomyopathy, Ventricular tachycardia, Histiocytoid cardiomyopathy, Ven... |
OMIM:300952 |
Buerger Disease |
|
Skin ulcer |
ORPHA:36258 |
Focal Segmental Glomerulosclerosis 1 |
|
Pleural effusion, Hyperlipidemia, Hypoalbuminemia |
OMIM:603278 |
Wolman Disease |
|
Cachexia |
ORPHA:75233 |
19Q13.11 Microdeletion Syndrome |
|
Bifid scrotum, Hypospadias, Cachexia, Supernumerary nipple, Cryptorchidism, Retrognathia, Wide mo... |
ORPHA:217346 |
Neutral Lipid Storage Myopathy |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Chronic pancreatitis, Obesity,... |
ORPHA:98908 |
Neurogenic Arthrogryposis Multiplex Congenita |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Fasciculations |
ORPHA:1143 |
Coenzyme Q10 Deficiency, Primary, 3 |
|
Bilateral tonic-clonic seizure with focal onset, Focal motor status epilepticus |
OMIM:614652 |
White-Sutton Syndrome |
|
Waddling gait, Hyperactivity, Short neck, Aggressive behavior, Hypoglycemic seizures, Self-injuri... |
OMIM:616364 |
Suleiman-El-Hattab Syndrome |
|
Microretrognathia, Thin upper lip vermilion, Cryptorchidism, Thick lower lip vermilion, Protrudin... |
OMIM:618950 |
Pde4D Haploinsufficiency Syndrome |
|
Mandibular prognathia, Thin upper lip vermilion, Hypospadias, Abnormal dental enamel morphology, ... |
ORPHA:439822 |
Combined Oxidative Phosphorylation Deficiency 39 |
|
Sinus bradycardia |
OMIM:618397 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Weight loss |
ORPHA:86893 |
Stuve-Wiedemann Syndrome 1 |
|
Fever, Abnormality of temperature regulation, Apnea, Respiratory insufficiency, Pulmonary arteria... |
OMIM:601559 |
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects |
|
Mandibular prognathia, Ataxia, Hypospadias, Dental crowding, Open bite, Inability to walk, Crypto... |
OMIM:620083 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Failure to thrive in infancy, Glucocortocoid-insensitive primary hyperaldosteronism, Wheezing, We... |
ORPHA:171876 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Waddling gait, Vertebral fusion, Hyperlordosis, Kyphosis, Tip-toe gait, Scoliosis, Difficulty wal... |
OMIM:607155 |
Ebola Hemorrhagic Fever |
|
Cough, Lethargy, Dyspnea, Dysphagia |
ORPHA:319218 |
Man1B1-Cdg |
|
Truncal obesity, Broad-based gait, Polyphagia, Resting tremor |
ORPHA:397941 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Mesenteric cyst, Bilateral tonic-clonic seizure, Ventricular septal defect, Parachute mitral valv... |
OMIM:618316 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Small scrotum, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... |
ORPHA:98754 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Bilateral tonic-clonic seizure, Ataxia, Large for gestational age, Generalized non-motor (absence... |
OMIM:615398 |
Hemophagocytic Syndrome Associated With An Infection |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Ataxia, Increased circulating ... |
ORPHA:158048 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Prolonged QT interval, Tachycardia |
ORPHA:1772 |
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Congestive heart failure, Hypertrophic cardiomyopathy, Arrhythmia |
ORPHA:1194 |
Combined Oxidative Phosphorylation Deficiency 47 |
|
Posteriorly rotated ears, Cryptorchidism, Sensorineural hearing impairment, Low-set ears, Long ph... |
OMIM:618958 |
Frontometaphyseal Dysplasia 1 |
|
Delayed eruption of teeth, Selective tooth agenesis, Persistence of primary teeth, Absent frontal... |
OMIM:305620 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Short stature, Micrognathia, Cleft lip, Dental malocclusion, Gingival overgrowth, Cleft palate, A... |
OMIM:616894 |
Stag1-Related Intellectual Disability-Facial Dysmorphism-Gastroesophageal Reflux Syndrome |
|
Micrognathia, Cryptorchidism, Orofacial cleft, Wide mouth, Widely-spaced maxillary central inciso... |
ORPHA:502434 |
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect |
|
Bilateral tonic-clonic seizure, Focal impaired awareness seizure |
OMIM:617468 |
Chromosome 3Q29 Duplication Syndrome |
|
Obesity |
OMIM:611936 |
Trichinellosis |
|
Confusion, Irritability, Apathy, Dysphagia, Memory impairment, Lethargy |
ORPHA:863 |
Familial Hypoaldosteronism |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level, Lethargy, Failure to thrive |
ORPHA:427 |
Autosomal Recessive Spastic Paraplegia Type 11 |
|
Ataxia, Parkinsonism, Overweight, Inability to walk, Paraparesis, Obesity, Lateral ventricle dila... |
ORPHA:2822 |
Shox-Related Short Stature |
|
Short stature, Obesity |
ORPHA:314795 |
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
|
Somatic sensory dysfunction, Short stature, Thick hair, Tremor, Dysmetria, Depression, Growth del... |
ORPHA:502423 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Arrhythmia, Dilated cardiomyopathy |
ORPHA:352447 |
Silver-Russell Syndrome Due To A Point Mutation |
|
Bifid scrotum, Small for gestational age, Dysmenorrhea, Hypospadias, Micrognathia, Cryptorchidism... |
ORPHA:397590 |
Cerebellofaciodental Syndrome |
|
Macrodontia of permanent maxillary central incisor, Taurodontia, Short stature, Dental malocclusion |
OMIM:616202 |
Barber-Say Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Micrognathia, Hypoplasia of the maxilla, Veloph... |
OMIM:209885 |
Spermatogenic Failure 6 |
|
Male infertility, Decreased acrosin in sperm head, Globozoospermia |
OMIM:102530 |
Purine Nucleoside Phosphorylase Deficiency |
|
Sinusitis, Ataxia, Hypouricemia, Increased circulating guanosine concentration, Pneumonia, Tremor... |
OMIM:613179 |
Pontocerebellar Hypoplasia, Type 17 |
|
Paroxysmal dystonia, Kyphosis, Low anterior hairline, Spastic tetraplegia, Seizure, Dysphagia, Li... |
OMIM:619909 |
Pfapa Syndrome |
|
Weight loss, Abnormal oral cavity morphology |
ORPHA:42642 |
Intellectual Developmental Disorder, Autosomal Dominant 1 |
|
Ataxia, Highly arched eyebrow, Aggressive behavior, Hemivertebrae, Bruxism, Low posterior hairlin... |
OMIM:156200 |
Aarskog-Scott Syndrome |
|
Elevated circulating luteinizing hormone level, Cleft upper lip, Hypoplasia of the maxilla, Bilat... |
OMIM:305400 |
Acromesomelic Dysplasia 4 |
|
Third degree atrioventricular block |
OMIM:619636 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Small scrotum, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... |
ORPHA:177901 |
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
Low-set, posteriorly rotated ears, Hypospadias, Micrognathia, Cryptorchidism, Aplasia/Hypoplasia ... |
ORPHA:98791 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Weight loss |
ORPHA:2198 |
Orofaciodigital Syndrome Type 2 |
|
Natal tooth, Median cleft lip, Apnea, Hamartoma of tongue, Micrognathia, Unilateral alveolar clef... |
ORPHA:2751 |
Porphyria, Acute Intermittent |
|
Hypertension, Tachycardia, Respiratory paralysis |
OMIM:176000 |
Seckel Syndrome 10 |
|
Microretrognathia, Acute pancreatitis, Hypertriglyceridemia, Elevated hemoglobin A1c, Elevated ci... |
OMIM:617253 |
Dracunculiasis |
|
Skin ulcer |
ORPHA:231 |
Hyperekplexia-Epilepsy Syndrome |
|
Exaggerated startle response |
ORPHA:163985 |
Urban-Rogers-Meyer Syndrome |
|
Hypoplasia of penis, Abnormality of the philtrum, Micrognathia, Cryptorchidism, Aplasia/Hypoplasi... |
ORPHA:3409 |
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome |
|
Bifid scrotum, Cryptorchidism, Glandular hypospadias, Respiratory insufficiency, Blind vagina, Hi... |
ORPHA:456328 |
Goodpasture Syndrome |
|
Crackles, Increased DLCO, Tachypnea, Weight loss, Restrictive ventilatory defect, Cough, Exertion... |
OMIM:233450 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Ataxia, Small for gestational age, Tremor, Tachypnea, Dysmetria, Truncal ataxia, Spasticity, Fail... |
OMIM:220111 |
Intellectual Developmental Disorder, X-Linked, Syndromic 33 |
|
Sacral dimple, Ataxia, Short neck, Tremor, Kyphosis, Synophrys, Oral-pharyngeal dysphagia, Promin... |
OMIM:300966 |
Systemic Capillary Leak Syndrome |
|
Pericarditis, Myocarditis, Cardiorespiratory arrest, Weight loss, Pleural effusion, Hypotension, ... |
ORPHA:188 |
Yellow Fever |
|
Shock, Fever, Supraventricular arrhythmia, Hematemesis, Capillary leak, Reduced left ventricular ... |
ORPHA:99829 |
Aplasia Cutis Congenita |
|
Skin ulcer |
ORPHA:1114 |
Congenital Disorder Of Glycosylation, Type It |
|
Tachycardia, Sudden cardiac death, Dyspnea, Dilated cardiomyopathy, Malignant hyperthermia, Abort... |
OMIM:614921 |
Poretti-Boltshauser Syndrome |
|
Dilated fourth ventricle, Cerebellar cyst, Cerebellar vermis hypoplasia, Cerebellar dysplasia |
OMIM:615960 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Small scrotum, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... |
ORPHA:98793 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Focal-onset seizure, Inability to walk, Generalized non-motor (absence) seizure, Seizure, Cogniti... |
ORPHA:258 |
Azoospermia, Obstructive, With Nephrolithiasis |
|
Male infertility, Obstructive azoospermia |
OMIM:301060 |
Neuroblastoma, Susceptibility To, 1 |
|
Failure to thrive, Ataxia, Myoclonus, Weight loss |
OMIM:256700 |
Kdm5C-Related Syndromic X-Linked Intellectual Disability |
|
Hypoplasia of the maxilla, Cryptorchidism, Protruding ear, High palate, Spasticity, Decreased tes... |
ORPHA:85279 |
Hydrops Fetalis |
|
Arrhythmia, Capillary leak |
ORPHA:1041 |
Giant Cell Arteritis |
|
Glossitis, Ataxia, Epistaxis, Weight loss, Paresthesia, Cough, Conductive hearing impairment, Dia... |
ORPHA:397 |
Turnpenny-Fry Syndrome |
|
Mandibular prognathia, Thin upper lip vermilion, Failure to thrive, Dental crowding, Abnormality ... |
OMIM:618371 |
Synaptic Congenital Myasthenic Syndromes |
|
Waddling gait, Hypoventilation, Respiratory distress, Neonatal respiratory distress, Respiratory ... |
ORPHA:98915 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Increased circulating ferritin concentration, Hypoplastic spleen, Hypertriglyceridemia |
OMIM:619313 |
Megalencephaly |
|
Truncal obesity |
ORPHA:2477 |
Autosomal Recessive Multiple Pterygium Syndrome |
|
Neonatal respiratory distress, Hypoplasia of penis, Small scrotum, Micrognathia, Cryptorchidism, ... |
ORPHA:2990 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Absent brainstem auditory responses, Aganglionic megacolon, Ataxia, Short-segment aganglionic meg... |
OMIM:609136 |
Bohring-Opitz Syndrome |
|
Apnea, Bradycardia |
ORPHA:97297 |
Cervical Hypertrichosis-Peripheral Neuropathy Syndrome |
|
Generalized hirsutism, Skin ulcer |
ORPHA:2218 |
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Ventilator dependence w... |
ORPHA:254864 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Kyphosis, Hypoplasia of the odontoid process, Vertebral segmentation defect, Scoliosis, Supernume... |
OMIM:609813 |
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Dyspnea, Obesity |
OMIM:615418 |
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Hypoplasia of penis, Abnormal dental enamel morphology, Supernumerary nipple, Cryptorchidism, Cle... |
ORPHA:1812 |
Chromosome 10Q26 Deletion Syndrome |
|
Thin upper lip vermilion, Broad-based gait, Small scrotum, Small for gestational age, Micrognathi... |
OMIM:609625 |
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Highly arched eyebrow, Cryptorchidism, Seizure, Scoliosis, Abnormal repetitive mannerisms |
ORPHA:500159 |
Distal 16P11.2 Microdeletion Syndrome |
|
Obesity, Attention deficit hyperactivity disorder |
ORPHA:261222 |
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
Respiratory insufficiency due to muscle weakness, Cryptorchidism, Overweight, High palate, Delaye... |
ORPHA:486815 |
Combined Oxidative Phosphorylation Deficiency 3 |
|
Hepatomegaly, Bilateral tonic-clonic seizure, Ataxia, Dyspnea, Dilated cardiomyopathy, Concentric... |
OMIM:610505 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Small scrotum, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... |
ORPHA:177904 |
Adrenal Hypoplasia, Congenital |
|
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Adrenal hypoplasia, Precocio... |
OMIM:300200 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Micrognathia, Spleno... |
ORPHA:280365 |
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Bilateral tonic-clonic seizure, Head-banging |
OMIM:619356 |
Pseudomyxoma Peritonei |
|
Respiratory insufficiency, Weight loss |
ORPHA:26790 |
Sclerosteosis 1 |
|
Mandibular prognathia, Dental malocclusion, Facial palsy secondary to cranial hyperostosis, Malar... |
OMIM:269500 |
Ataxia-Telangiectasia |
|
Dystonia, Ataxia, Short stature, Sinusitis, Abnormal hair morphology, Inability to walk, Tremor, ... |
OMIM:208900 |
Bardet-Biedl Syndrome 20 |
|
Elevated hepatic transaminase, Asthma, Obesity, Hypercholesterolemia, Pancreatitis |
OMIM:619471 |
Holoprosencephaly 9 |
|
Short stature, Hypoplasia of the premaxilla, Cleft upper lip, Hypoplasia of the maxilla, Agenesis... |
OMIM:610829 |
Diethylstilbestrol Syndrome |
|
Central apnea, Premature ovarian insufficiency, Small for gestational age, Hypospadias, Vaginal n... |
ORPHA:1916 |
Scapuloperoneal Spinal Muscular Atrophy |
|
Broad-based gait, Torticollis, Hyperlordosis, Kyphosis, Distal sensory impairment, Scoliosis |
OMIM:181405 |
Abruzzo-Erickson Syndrome |
|
Hypospadias, Coronal hypospadias, Cryptorchidism, Sensorineural hearing impairment, Cleft palate,... |
ORPHA:921 |
Fetal Akinesia Deformation Sequence 4 |
|
Cryptorchidism, Kyphosis, Short neck |
OMIM:618393 |
Seckel Syndrome 5 |
|
Hypospadias, Selective tooth agenesis, Micrognathia, Cryptorchidism, Cleft palate, Oligodontia, H... |
OMIM:613823 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Protruding tongue, Cryptorchidism, Sensorineural hearing impairment, Retrognathia, Alveolar ridge... |
OMIM:612938 |
Haddad Syndrome |
|
Aganglionic megacolon, Abnormal autonomic nervous system physiology |
ORPHA:99803 |
Congenital Pulmonary Lymphangiectasia |
|
Respiratory distress, Chronic pulmonary obstruction, Growth delay, Cough, Pulmonary arterial hype... |
ORPHA:2414 |
Osteoglosphonic Dysplasia |
|
Failure to thrive in infancy, Micrognathia, Cryptorchidism, Protruding ear, Multiple unerupted te... |
ORPHA:2645 |
Pearson Marrow-Pancreas Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Pancreatic fibrosis, Small for ge... |
OMIM:557000 |
O'Sullivan-Mcleod Syndrome |
|
Tremor, Somatic sensory dysfunction, Fasciculations |
ORPHA:99965 |
Genitopatellar Syndrome |
|
Seizure, Apnea |
ORPHA:85201 |
Limited Cutaneous Systemic Sclerosis |
|
Skin ulcer, Dysphagia |
ORPHA:220402 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Low-set, posteriorly rotated ears, Carious teeth, Cryptorchidism, Deep philtrum, Thick lower lip ... |
ORPHA:2701 |
Immunodeficiency 87 And Autoimmunity |
|
Dilated cardiomyopathy, Hypertension, Third degree atrioventricular block, Pulmonary arterial hyp... |
OMIM:619573 |
Bainbridge-Ropers Syndrome |
|
Highly arched eyebrow, Supernumerary nipple, Cryptorchidism, Synophrys, Inability to walk, Hirsut... |
OMIM:615485 |
Chromosome 3Q13.31 Deletion Syndrome |
|
Cryptorchidism, Kyphosis, Seizure, Attention deficit hyperactivity disorder, Decreased testicular... |
OMIM:615433 |
Spondyloarthropathy, Susceptibility To, 1 |
|
Aortic regurgitation, Arrhythmia |
OMIM:106300 |
Takayasu Arteritis |
|
Anorexia, Weight loss, Seizure, Pulmonary arterial hypertension, Abnormal pattern of respiration |
ORPHA:3287 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Cryptorchidism, Seizure, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:618504 |
Sitosterolemia 1 |
|
Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Splenomegaly, Xanthel... |
OMIM:210250 |
Intellectual Developmental Disorder, Autosomal Recessive 65 |
|
Hypospadias, Abnormal pinna morphology, Supernumerary nipple, Cryptorchidism, Unsteady gait, Gait... |
OMIM:618109 |
Marinesco-Sjogren Syndrome |
|
Ataxia, Kyphosis, Limb ataxia, Gait ataxia, Scoliosis, Spasticity |
OMIM:248800 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Fused labia majora, Decreased circulating cortisol level, Ambiguous genitalia, female, Abnormal o... |
ORPHA:90794 |
Treacher-Collins Syndrome |
|
Hypoplasia of penis, Small scrotum, Micrognathia, Hypoplasia of the maxilla, Glossoptosis, Hypopl... |
ORPHA:861 |
Botulism |
|
Arrhythmia |
ORPHA:1267 |
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome |
|
Dilated fourth ventricle, Cerebellar dysplasia, Elongated superior cerebellar peduncle, Inferior ... |
ORPHA:370022 |
Spermatogenic Failure 75 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619949 |
Hall-Riggs Syndrome |
|
Kyphosis, Irregular vertebral endplates, Platyspondyly, Seizure, Scoliosis |
OMIM:234250 |
Pseudopseudohypoparathyroidism |
|
Intrauterine growth retardation, Short stature, Obesity |
ORPHA:79445 |
Friedreich Ataxia |
|
Impaired vibratory sensation, Abnormal EKG, Ataxia, Congestive heart failure, Impaired propriocep... |
OMIM:229300 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Sinusitis, Hemiplegia/hemiparesis, Asthma, Respiratory insufficiency, Weight loss, Gait disturban... |
ORPHA:183 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Respiratory distress, Broad-based gait, Pain insensitivity, Ataxia, Short stature, Distal sensory... |
OMIM:256810 |
Lymphoid Interstitial Pneumonia |
|
Crackles, Dyspnea, Wheezing, Bronchiectasis, Weight loss, Hypoxemia, Restrictive ventilatory defe... |
ORPHA:79128 |
Nephrotic Syndrome, Type 1 |
|
Neonatal respiratory distress, Small for gestational age, Hyperlipidemia, Hypoalbuminemia, Hypopr... |
OMIM:256300 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Micrognathia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, ... |
OMIM:618183 |
Niemann-Pick Disease, Type C2 |
|
Ataxia, Dysphagia, Seizure, Dystonia, Cataplexy, Spasticity, Abnormal repetitive mannerisms |
OMIM:607625 |
Tarp Syndrome |
|
Seizure, Broad-based gait, Apnea |
ORPHA:2886 |
Desbuquois Dysplasia 1 |
|
Waddling gait, Neonatal respiratory distress, Severe short stature, Obesity, Growth delay, Dispro... |
OMIM:251450 |
Warburg Micro Syndrome 4 |
|
Small scrotum, Inability to walk, Cryptorchidism, Babinski sign, Spastic tetraplegia, Narrow mout... |
OMIM:615663 |
Pelger-Huet Anomaly |
|
Seizure, Ventricular septal defect, Failure to thrive, Bilateral tonic-clonic seizure |
OMIM:169400 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Waddling gait, Speech apraxia, Dystonia, Ataxia, Hyperlordosis, Tremor, Inability to walk, Chorea... |
OMIM:615356 |
Slc39A8-Cdg |
|
Inability to walk, Seizure, Sudden episodic apnea |
ORPHA:468699 |
Elsahy-Waters Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Thin upper lip vermilion, Hypoplasia of the max... |
OMIM:211380 |
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Umbilical hernia, Inguinal hernia, Overgrowth, Large for gestational age |
OMIM:618272 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Appendicular spasticity, Thin upper lip vermilion, Posteriorly rotated ears, Inability to walk, H... |
OMIM:618494 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Neonatal respiratory distress, Hypospadias, Posteriorly rotated ears, Adrenal hypoplasia, Microgn... |
OMIM:214100 |
Developmental Delay, Hypotonia, And Impaired Language |
|
Cryptorchidism, Mixed hearing impairment, Recurrent pneumonia, Ataxia |
OMIM:620012 |
Qazi-Markouizos Syndrome |
|
Torticollis, Cryptorchidism, High, narrow palate, Hypoplasia of teeth, Open mouth, Broad philtrum |
ORPHA:3010 |
Laryngomalacia |
|
Respiratory distress, Congenital laryngeal stridor |
OMIM:150280 |
Intellectual Developmental Disorder, Autosomal Dominant 21 |
|
Posteriorly rotated ears, Cryptorchidism, Cleft palate, Thin vermilion border, Low-set ears, Narr... |
OMIM:615502 |
Lipodystrophy, Familial Partial, Type 2 |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Acute pancreatitis, ... |
OMIM:151660 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Tented upper lip vermilion, Hypertriglyceridemia, Hypercalcemia, Exaggerated cupid's bow, Microgn... |
ORPHA:369837 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Hypertriglyceridemia, Long uvula, Micrognathia, Impaired temperature sensation, Tooth malposition... |
ORPHA:536532 |
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Parkinsonism, Repetitive compulsive behavior, Hypersexuality, Agitation, Disinhibition, Apraxia, ... |
OMIM:607485 |
Posterior Urethral Valve |
|
Postnatal growth retardation, Lethargy, Retrognathia |
ORPHA:93110 |
Microphthalmia, Syndromic 12 |
|
Micrognathia, Cryptorchidism, Cleft palate, Bicornuate uterus, Retrognathia |
OMIM:615524 |
Meconium Aspiration Syndrome |
|
Respiratory distress, Neonatal asphyxia, Wheezing, Pneumothorax, Hypoxemia, Pulmonary arterial hy... |
ORPHA:70588 |
Immunodeficiency 97 With Autoinflammation |
|
Splenomegaly, Increased circulating ferritin concentration, Hypertriglyceridemia, Hepatosplenomegaly |
OMIM:619802 |
Chromosome 18P Deletion Syndrome |
|
Small for gestational age, Posteriorly rotated ears, Micrognathia, Cryptorchidism, Tooth malposit... |
OMIM:146390 |
Localized Scleroderma |
|
Abnormality of the dentition, Abnormality on pulmonary function testing, Dental malocclusion, Abn... |
ORPHA:90289 |
3-Methylglutaconic Aciduria, Type Viia |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Atypical absence seizure, Myoclonic se... |
OMIM:619835 |
Myopathy, Centronuclear, 2 |
|
Waddling gait, Kyphosis, Scoliosis, Hyperlordosis |
OMIM:255200 |
Gabriele-De Vries Syndrome |
|
Waddling gait, Posteriorly rotated ears, Micrognathia, Tremor, Cryptorchidism, Abnormality of the... |
OMIM:617557 |
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Overweight, Cryptorchidism, Asthma, Gait disturbance, Hypogonadism, Micropenis, Failure to thrive... |
ORPHA:500055 |
Acquired Generalized Lipodystrophy |
|
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Cirrhosis, Abnormal circulating lipid con... |
ORPHA:79086 |
Cutis Laxa, Autosomal Recessive, Type Ib |
|
Emphysema, Pulmonary insufficiency, Bradycardia |
OMIM:614437 |
Parenteral Nutrition-Associated Cholestasis |
|
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Portal hypertension, Conj... |
ORPHA:567983 |
Microlissencephaly-Micromelia Syndrome |
|
Respiratory distress, Seizure, Hypertonia, Generalized hypertrichosis, Failure to thrive |
ORPHA:50810 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Failure to thrive in infancy, Bilateral tonic-clonic seizure with focal onset, Aggressive behavio... |
ORPHA:488627 |
Mitochondrial Myopathy And Sideroblastic Anemia |
|
Kyphosis, Distichiasis, Scoliosis |
ORPHA:2598 |
Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Limb dystonia, Multifocal seizures, Ataxia, Aggressive behavior, Tremor, Spastic tetraplegia, Dys... |
ORPHA:572798 |
Usher Syndrome |
|
Abnormality of dental color, Ataxia, Abnormal dental enamel morphology, Carious teeth, Sensorineu... |
ORPHA:886 |
Stiff Person Spectrum Disorder |
|
Rigidity, Exaggerated startle response, Falls, Difficulty walking |
ORPHA:3198 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Decreased circulating cortisol level, Precocious puberty, Cryptorchidism, Abnormal circulating re... |
OMIM:614736 |
Microscopic Polyangiitis |
|
Gastrointestinal hemorrhage, Fever, Pericarditis, Epistaxis, Congestive heart failure, Vasculitis... |
ORPHA:727 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Sacral dimple, Lumbar hyperlordosis, Generalized-onset seizure, Increased intervertebral space, H... |
ORPHA:508533 |
Ddost-Cdg |
|
Elevated hepatic transaminase, Tremor, Oromotor apraxia, Failure to thrive, Hepatic steatosis |
ORPHA:300536 |
Inflammatory Bowel Disease 11 |
|
Weight loss |
OMIM:191390 |
Ear-Patella-Short Stature Syndrome |
|
Respiratory distress, Hypoplasia of penis, Micrognathia, Hypoplasia of the maxilla, Epispadias, H... |
ORPHA:2554 |
Baraitser-Winter Syndrome 1 |
|
Thin upper lip vermilion, Cleft upper lip, Cryptorchidism, Sensorineural hearing impairment, Retr... |
OMIM:243310 |
Hajdu-Cheney Syndrome |
|
Short stature, Micrognathia, Absent frontal sinuses, Dental malocclusion, High palate, Narrow mou... |
OMIM:102500 |
Meier-Gorlin Syndrome 4 |
|
Micrognathia, Hypoplasia of the maxilla, Cryptorchidism, Thick lower lip vermilion, Microtia, Low... |
OMIM:613804 |
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome |
|
Delayed eruption of teeth, Broad-based gait, Abnormality of the pineal gland, Abnormal dental mor... |
ORPHA:369950 |
Beta-Thalassemia |
|
Irritability, Pallor, Skin ulcer |
ORPHA:848 |
Cutis Laxa, Autosomal Recessive, Type Iiia |
|
Cryptorchidism, Macrotia, Athetosis, Low-set ears, Narrow mouth, Failure to thrive |
OMIM:219150 |
Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Kyphosis, Seizure, Abnormal repetitive mannerisms, Scoliosis |
ORPHA:261144 |
Follicular Lymphoma |
|
Pleural effusion, Weight loss |
ORPHA:545 |
Primary Myelofibrosis |
|
Cachexia |
ORPHA:824 |
Carpenter Syndrome |
|
Umbilical hernia, Obesity |
ORPHA:65759 |
Craniofaciofrontodigital Syndrome |
|
Respiratory distress, Short stature, Thick hair, Large for gestational age, Dyspnea, Low anterior... |
ORPHA:363705 |
Developmental And Epileptic Encephalopathy 95 |
|
Hepatomegaly, Multifocal seizures, Bilateral tonic-clonic seizure, Ataxia, Cardiomegaly, Focal-on... |
OMIM:618143 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Exaggerated median tongue furrow, Exaggerated cupid's bow, Impaired pain sensation, Open bite, Hi... |
ORPHA:352665 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Exaggerated median tongue furrow, Exaggerated cupid's bow, Impaired pain sensation, Open bite, Hi... |
ORPHA:453504 |
Emanuel Syndrome |
|
Broad jaw, Torticollis, Dental crowding, Delayed eruption of primary teeth, Micrognathia, Cryptor... |
OMIM:609029 |
Congenital Muscular Dystrophy, Ullrich Type |
|
Torticollis, Spinal rigidity, Short neck, Kyphosis, Scoliosis, Frequent falls |
ORPHA:75840 |
Autosomal Recessive Spastic Paraplegia Type 35 |
|
Lower limb spasticity, Generalized dystonia, Spastic tetraparesis, Kyphosis, Babinski sign, Spast... |
ORPHA:171629 |
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome |
|
Resting tremor, Ataxia, Babinski sign, Depression, Head tremor, Mental deterioration, Memory impa... |
ORPHA:314404 |
Pheochromocytoma/Paraganglioma Syndrome 4 |
|
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma |
OMIM:115310 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Hyperlipidemia, Hyperuricemia |
ORPHA:364 |
Pseudohypoparathyroidism, Type Ic |
|
Delayed eruption of teeth, Elevated circulating thyroid-stimulating hormone concentration, Obesit... |
OMIM:612462 |
Sotos Syndrome |
|
Mandibular prognathia, Posteriorly rotated ears, Cryptorchidism, High, narrow palate, Poor coordi... |
OMIM:117550 |
Ohdo Syndrome |
|
Small scrotum, Hearing impairment, Micrognathia, Cryptorchidism, Hypoplasia of teeth, Thin vermil... |
OMIM:249620 |
Aplasia Cutis-Myopia Syndrome |
|
Skin ulcer |
ORPHA:1117 |
Oculogastrointestinal Muscular Dystrophy |
|
Cachexia |
ORPHA:1876 |
Spermatogenic Failure 9 |
|
Male infertility, Globozoospermia |
OMIM:613958 |
Spermatogenic Failure 67 |
|
Male infertility, Globozoospermia |
OMIM:619803 |
Spermatogenic Failure 68 |
|
Male infertility, Globozoospermia |
OMIM:619805 |
Spermatogenic Failure 69 |
|
Male infertility, Globozoospermia |
OMIM:619826 |
Spermatogenic Failure 66 |
|
Male infertility, Globozoospermia |
OMIM:619799 |
Wt Limb-Blood Syndrome |
|
Cryptorchidism, Sensorineural hearing impairment, Retrognathia, Micrognathia |
OMIM:194350 |
Pitt-Hopkins Syndrome |
|
Ataxia, Supernumerary nipple, Cryptorchidism, Tooth malposition, Gait ataxia, Wide mouth, Short p... |
ORPHA:2896 |
2Q37 Microdeletion Syndrome |
|
Short stature, Obesity, Attention deficit hyperactivity disorder, Compulsive behaviors, Tracheoma... |
ORPHA:1001 |
Bardet-Biedl Syndrome 6 |
|
Obesity |
OMIM:605231 |
Hyperkeratosis Lenticularis Perstans |
|
Skin ulcer |
ORPHA:409 |
Complete Androgen Insensitivity Syndrome |
|
Male infertility, Abnormal uterine cervix morphology, Elevated circulating luteinizing hormone le... |
ORPHA:99429 |
Focal Myositis |
|
Weight loss |
ORPHA:48918 |
Autoimmune Pulmonary Alveolar Proteinosis |
|
Crackles, Dyspnea, Weight loss, Hypoxemia, Restrictive ventilatory defect, Cough, Decreased DLCO |
ORPHA:747 |
Werner Syndrome |
|
Hypertriglyceridemia, Elevated circulating aspartate aminotransferase concentration, Elevated hem... |
OMIM:277700 |
Chromosome 16P13.3 Deletion Syndrome, Proximal |
|
Failure to thrive, Obesity |
OMIM:610543 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type |
|
Abdominal obesity, Disproportionate tall stature, Attention deficit hyperactivity disorder, Aggre... |
OMIM:301039 |
Brooke-Spiegler Syndrome |
|
Skin appendage neoplasm, Trichoepithelioma, Cylindroma, Skin ulcer |
ORPHA:79493 |
Emanuel Syndrome |
|
Delayed eruption of teeth, Broad jaw, Dental crowding, Hearing impairment, Micrognathia, Cryptorc... |
ORPHA:96170 |
Microphthalmia, Syndromic 8 |
|
Mandibular prognathia, Cleft upper lip, Cryptorchidism, Cleft palate, Orofacial cleft, Widely-spa... |
OMIM:601349 |
Adnp Syndrome |
|
Respiratory distress, Sparse scalp hair, Short stature, Oral-pharyngeal dysphagia, Aggressive beh... |
ORPHA:404448 |
Hereditary Fructose Intolerance |
|
Hepatomegaly, Jaundice, Hypermagnesemia, Hyperuricemia, Hypophosphatemia, Lethargy, Chronic hepat... |
ORPHA:469 |
Pemphigus Vulgaris |
|
Weight loss, Abnormal oral cavity morphology |
ORPHA:704 |
Foodborne Botulism |
|
Arrhythmia |
ORPHA:228371 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Thin upper lip vermilion, Micrognathia, Cryptorchidism, Opisthotonus, Protruding ear, Hypertonia,... |
ORPHA:3304 |
N Syndrome |
|
Cryptorchidism, Spasticity, Hypospadias, Hearing impairment |
OMIM:310465 |
Au-Kline Syndrome |
|
Failure to thrive, Dental malocclusion, Bifid tongue, Cleft palate, Downturned corners of mouth, ... |
OMIM:616580 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Waddling gait, Kyphoscoliosis, Kyphosis, Synophrys, Scoliosis, Difficulty walking, Thick eyebrow |
OMIM:300280 |
Thyroid Lymphoma |
|
Respiratory distress, Dyspnea, Upper airway obstruction, Stridor, Dysphagia |
ORPHA:97285 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Posteriorly rotated ears, Micrognathia, Tremor, Large for gestational age, Cupped ear, Overfolded... |
OMIM:614080 |
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
|
Lower limb spasticity, Hyperactivity, Bilateral tonic-clonic seizure, Clonus, Infantile spasms, H... |
ORPHA:447997 |
Rubinstein-Taybi Syndrome 1 |
|
Respiratory distress, Dental crowding, Micrognathia, Hypoplasia of the maxilla, High, narrow pala... |
OMIM:180849 |
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia |
|
Reduced response to gonadotropin-releasing hormone stimulation test, Cryptorchidism, Primary amen... |
OMIM:616030 |
Meier-Gorlin Syndrome 7 |
|
Heart block, Second degree atrioventricular block |
OMIM:617063 |
Monosomy 18Q |
|
Mandibular prognathia, Slender build, Bilateral cryptorchidism, Open mouth, Macrotia, Poor coordi... |
ORPHA:1600 |
22Q11.2 Duplication Syndrome |
|
Seizure, Attention deficit hyperactivity disorder, Compulsive behaviors, Scoliosis, Abnormal repe... |
ORPHA:1727 |
Noonan Syndrome 8 |
|
Atrial septal defect, Ventricular septal defect, Large for gestational age, Pleural effusion, Mit... |
OMIM:615355 |
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities |
|
Broad-based gait, Hyperactivity, Bilateral tonic-clonic seizure, Ataxia, Aggressive behavior, Gen... |
OMIM:614756 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Abnormal dental enamel morphology, Obesity |
ORPHA:2180 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Hypoplasia of the pons, Cerebellar cyst, Cerebellar hypoplasia, Cerebellar dysplasia |
OMIM:615181 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Micropenis, Decreased circulat... |
OMIM:614841 |
Charcot-Marie-Tooth Disease Type 4B2 |
|
Tongue atrophy, Reduced vital capacity, Tremor, Inability to walk, Vocal cord paralysis, Respirat... |
ORPHA:99956 |
Prolidase Deficiency |
|
Skin ulcer, Low posterior hairline, Facial hirsutism, Febrile seizure (within the age range of 3 ... |
OMIM:170100 |
Joubert Syndrome 37 |
|
Posteriorly rotated ears, Cryptorchidism, Obesity, High palate, Low-set ears, Oculomotor apraxia,... |
OMIM:619185 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Medial flaring of the eyebrow, Short attention span, Respiratory distress, Sparse eyelashes, Low ... |
OMIM:612863 |
Barth Syndrome |
|
Increased left ventricular end-diastolic volume, Tricuspid regurgitation, Congestive heart failur... |
OMIM:302060 |
Prader-Willi Syndrome |
|
Small scrotum, Decreased response to growth hormone stimulation test, External genital hypoplasia... |
OMIM:176270 |
Faciocardiomelic Syndrome |
|
Micrognathia, Large for gestational age, Dental malocclusion, Wide mouth, Long philtrum, Hyperpla... |
OMIM:612731 |
Leydig Cell Hypoplasia |
|
Hypoplasia of the Leydig cells, Male hypogonadism, Micropenis, Abnormal internal genitalia, Hypos... |
ORPHA:755 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Polyphagia, Obesity |
OMIM:609734 |
Branchial Arch Syndrome, X-Linked |
|
Cryptorchidism, High, narrow palate, Protruding ear, High palate, Low-set ears, Hearing impairment |
OMIM:301950 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Neonatal respiratory distress, Micrognathia, Dental malocclusion, Cleft palate, Downturned corner... |
OMIM:265000 |
Borjeson-Forssman-Lehmann Syndrome |
|
Hypoplasia of penis, Small scrotum, Cryptorchidism, Orofacial cleft, Truncal obesity, Large earlo... |
ORPHA:127 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Neonatal insulin-dependent diabetes mellitus, Ataxia, Weight loss, Downturned corners of mouth, A... |
ORPHA:99885 |
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Thin upper lip vermilion, Tented upper lip vermilion, Postnatal growth retardation, Dental malocc... |
ORPHA:487796 |
Coenzyme Q10 Deficiency, Primary, 1 |
|
Ataxia, Tremor, Seizure, Status epilepticus, Myoclonus, Dysphagia, Loss of ambulation, Right hemi... |
OMIM:607426 |
Prolidase Deficiency |
|
Abnormal fingernail morphology, Erythema, Low anterior hairline, Skin ulcer, White forelock, Dry ... |
ORPHA:742 |
Trigeminal Neuralgia |
|
Somatic sensory dysfunction, Paresthesia, Allodynia |
ORPHA:221091 |
Combined Oxidative Phosphorylation Deficiency 18 |
|
Tremor, Increased mitochondrial number, Dysmetria |
OMIM:615578 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Spasticity, Ataxia, Cachexia |
ORPHA:220295 |
X-Linked Agammaglobulinemia |
|
Sinusitis, Sensorineural hearing impairment, Recurrent pneumonia, Weight loss, Glossoptosis, Fail... |
ORPHA:47 |
Asparagine Synthetase Deficiency |
|
Exaggerated startle response, Clonus, Micrognathia, Tremor, Spastic tetraplegia, Respiratory insu... |
OMIM:615574 |
Aicardi-Goutieres Syndrome 9 |
|
Spastic tetraparesis, Spastic tetraplegia, Spastic diplegia, Weight loss, Seizure, Irritability, ... |
OMIM:619487 |
Wieacker-Wolff Syndrome, Female-Restricted |
|
Short neck, Inability to walk, Kyphosis, Scoliosis, Dysphagia, Oculomotor apraxia, Spasticity |
OMIM:301041 |
Leopard Syndrome 1 |
|
Bundle branch block, Hypertrophic cardiomyopathy, Third degree atrioventricular block, Pulmonic s... |
OMIM:151100 |
Proprotein Convertase 1/3 Deficiency |
|
Obesity |
OMIM:600955 |
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Broad eyebrow, Highly arched eyebrow, Aggressive behavior, Cryptorchidism, Kyphosis, Low anterior... |
OMIM:619244 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Telangiectasia of the skin, Arrhythmia, Optic atrophy, Cerebral ischemia |
ORPHA:60040 |
Melas |
|
Short attention span, Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Depression, Se... |
ORPHA:550 |
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Slender build, Allodynia, Cachexia, Weight loss |
OMIM:603041 |
Acquired Hypertrichosis Lanuginosa |
|
Macroglossia, Ovarian neoplasm, Glossitis, Weight loss |
ORPHA:2221 |
Xp22.13P22.2 Duplication Syndrome |
|
Truncal obesity, Short stature, Attention deficit hyperactivity disorder |
ORPHA:284180 |
Idiopathic Juvenile Osteoporosis |
|
Kyphosis, Vertebral compression fracture, Gait disturbance |
ORPHA:85193 |
Mu-Heavy Chain Disease |
|
Weight loss |
ORPHA:100024 |
Mosaic Monosomy X |
|
Elevated hepatic transaminase, Prolonged QT interval, Bicuspid aortic valve, Failure to thrive in... |
ORPHA:99228 |
Monosomy X |
|
Elevated hepatic transaminase, Prolonged QT interval, Bicuspid aortic valve, Failure to thrive in... |
ORPHA:99226 |
Turner Syndrome |
|
Elevated hepatic transaminase, Prolonged QT interval, Bicuspid aortic valve, Failure to thrive in... |
ORPHA:881 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Elevated hepatic transaminase, Prolonged QT interval, Bicuspid aortic valve, Failure to thrive in... |
ORPHA:99413 |
8P23.1 Microdeletion Syndrome |
|
Hypospadias, Micrognathia, External ear malformation, Cryptorchidism, Obesity, Weight loss, Thin ... |
ORPHA:251071 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Cervical platyspondyly, Waddling gait, Lumbar hyperlordosis, Increased intervertebral space, Hypo... |
ORPHA:93314 |
Incontinentia Pigmenti |
|
Alopecia, Abnormal fingernail morphology, Supernumerary nipple, Abnormal hair morphology, Erythem... |
ORPHA:464 |
Wiedemann-Steiner Syndrome |
|
Thin upper lip vermilion, Broad-based gait, Exaggerated cupid's bow, Micrognathia, Cryptorchidism... |
OMIM:605130 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Cachexia |
OMIM:175500 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Hypoventilation, Epileptic spasm, Broad-based gait, Apnea, Breathing dysregulation, Inability to ... |
ORPHA:438213 |
Hemorrhagic Fever-Renal Syndrome |
|
Respiratory distress, Shock, Tachycardia, Fever, Pneumonia, Epistaxis, Hematemesis, Dyspnea, Capi... |
ORPHA:340 |
Wagro Syndrome |
|
Aggressive behavior, Obesity, Agitation, Compulsive behaviors, Polyphagia |
OMIM:612469 |
Menkes Disease |
|
Intracranial hemorrhage, Gastrointestinal hemorrhage, Hypothermia |
ORPHA:565 |
Coffin-Siris Syndrome 7 |
|
Sparse scalp hair, Hyperactivity, Severe temper tantrums, Compulsive behaviors, Abnormal repetiti... |
OMIM:618027 |
Non-Progressive Cerebellar Ataxia With Intellectual Disability |
|
Ataxia, Aggressive behavior, Unsteady gait, Abnormal pyramidal sign, Dysmetria, Positive Romberg ... |
ORPHA:314647 |
Intellectual Disability-Developmental Delay-Contractures Syndrome |
|
Oculomotor apraxia, Kyphosis, Scoliosis |
ORPHA:3454 |
Cystinosis |
|
Short stature, Gait disturbance, Delayed puberty, Polydipsia, Failure to thrive, Abnormal repetit... |
ORPHA:213 |
Myotubular Myopathy With Abnormal Genital Development |
|
Respiratory distress, Bifid scrotum, Hypospadias, Unilateral cryptorchidism, Bilateral cryptorchi... |
OMIM:300219 |
Chilblain Lupus |
|
Skin ulcer |
ORPHA:90280 |
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
|
Cryptorchidism, Primary amenorrhea, Decreased circulating luteinizing hormone level, Decreased ci... |
OMIM:614897 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Respiratory distress, Orthopnea, Respiratory insufficiency due to muscle weakness, Inability to w... |
ORPHA:365 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Waddling gait, Disproportionate short-limb short stature, Obesity |
ORPHA:174 |
Congenital Laryngeal Web |
|
Respiratory distress, Stridor, Short stature |
ORPHA:2374 |
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Hemiplegia, Cachexia |
ORPHA:3217 |
Adiposis Dolorosa |
|
Paresthesia, Obesity |
ORPHA:36397 |
Insulin-Resistance Syndrome Type B |
|
Enlarged ovaries, Pneumonia, Abnormality of body weight, Abnormal circulating leptin concentratio... |
ORPHA:2298 |
Osteogenesis Imperfecta |
|
Delayed eruption of teeth, Abnormality of dental color, Somatic sensory dysfunction, Ataxia, Abno... |
ORPHA:666 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Abnormal intrahepatic bile duct morphology, Hypercholesterolemia, Emphysema, Hypertriglyceridemia |
ORPHA:363618 |
Apert Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Dental malocclusion, Cleft palate, Narrow palat... |
OMIM:101200 |
Fructose Intolerance, Hereditary |
|
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Bicarbonaturia, Hyperuricemia, Hyperbiliru... |
OMIM:229600 |
Chromosome 19Q13.11 Deletion Syndrome, Distal |
|
Bifid scrotum, Hypospadias, Micrognathia, Carious teeth, Cryptorchidism, Macrotia, Retrognathia, ... |
OMIM:613026 |
Noonan Syndrome 5 |
|
Hypertrophic cardiomyopathy, Arrhythmia, Pulmonic stenosis |
OMIM:611553 |
Joubert Syndrome 6 |
|
Oculomotor apraxia, Abnormal repetitive mannerisms, Ataxia |
OMIM:610688 |
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Cardiomyopathy, Arrhythmia |
ORPHA:228305 |
Oculocerebrofacial Syndrome, Kaufman Type |
|
Respiratory distress, Absent eyebrow, Dyspnea, Growth delay, Respiratory failure, Thin eyebrow, F... |
ORPHA:2707 |
Williams Syndrome |
|
Elevated circulating creatine kinase concentration, Micrognathia, Tremor, Dysmetria, Microdontia,... |
ORPHA:904 |
Chronic Mucocutaneous Candidiasis |
|
Abnormal fingernail morphology, Erythema, Broad nail, Skin ulcer, Seizure, Abnormal toenail morph... |
ORPHA:1334 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Omphalocele, Small for gestational age, Large for gestational age, Overgrowth, Umbilical hernia |
ORPHA:254534 |
Developmental And Epileptic Encephalopathy 105 With Hypopituitarism |
|
Focal impaired awareness seizure, Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure |
OMIM:619983 |
Necrobiosis Lipoidica |
|
Erythema, Skin ulcer |
ORPHA:542592 |
Wolfram Syndrome 1 |
|
Ataxia, Tremor, Growth delay, Seizure, Dysphagia |
OMIM:222300 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type |
|
Increased body weight, Downturned corners of mouth, Wide mouth, Thin vermilion border, Malar flat... |
OMIM:300860 |
Xfe Progeroid Syndrome |
|
Poor coordination, Failure to thrive, Cachexia |
OMIM:610965 |
Kniest Dysplasia |
|
Respiratory distress, Rhizomelia, Disproportionate short-trunk short stature, Gait disturbance, T... |
OMIM:156550 |
Rabin-Pappas Syndrome |
|
Mandibular prognathia, Hypoventilation, Failure to thrive in infancy, Micrognathia, Conductive he... |
OMIM:620155 |
Tangier Disease |
|
Hepatosplenomegaly, Hypertriglyceridemia, Impaired temperature sensation, Hypocholesterolemia |
ORPHA:31150 |
Autosomal Dominant Hypocalcemia |
|
Congestive heart failure, Depression, Fatigable weakness, Paresthesia, Hypotension, Emotional lab... |
ORPHA:428 |
Shprintzen-Goldberg Syndrome |
|
Mitral regurgitation, Apnea |
ORPHA:2462 |
Amoebiasis Due To Free-Living Amoebae |
|
Restlessness, Ataxia, Confusion, Abnormal hypothalamus morphology, Irritability, Lethargy |
ORPHA:68 |
Macrocephaly/Autism Syndrome |
|
Speech apraxia, Overgrowth, Obesity, Large for gestational age |
OMIM:605309 |
Xq21 Microdeletion Syndrome |
|
Stapes ankylosis, Ataxia, Decreased response to growth hormone stimulation test, Dilatated intern... |
ORPHA:1435 |
Medullary Thyroid Carcinoma |
|
Primary hyperparathyroidism, Weight loss, Pheochromocytoma, Elevated circulating calcitonin conce... |
ORPHA:1332 |
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties |
|
Bilateral tonic-clonic seizure, Pericardial effusion, Multiple muscular ventricular septal defect... |
OMIM:620070 |
Meningioma |
|
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Neoplasm of th... |
ORPHA:2495 |
Leishmaniasis |
|
Skin ulcer, Pallor, Anorexia |
ORPHA:507 |
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome |
|
Kyphosis, Abnormal testis morphology, Scoliosis |
ORPHA:1548 |
Genetic Recurrent Myoglobinuria |
|
Fever, Arrhythmia |
ORPHA:99845 |
Faciodigitogenital Syndrome, Autosomal Recessive |
|
Proportionate short stature, Trismus, Deep philtrum, Dental malocclusion, Narrow palate, Wide mou... |
OMIM:227330 |
Achondroplasia |
|
Rhizomelia, Disproportionate short stature, Obesity, Hypoxemia, Restrictive ventilatory defect |
ORPHA:15 |
Lissencephaly Due To Tuba1A Mutation |
|
Focal-onset seizure, Bilateral tonic-clonic seizure, Infantile spasms |
ORPHA:171680 |
Behçet Disease |
|
Ataxia, Confusion, Anorexia, Pulmonary embolism, Abnormal pyramidal sign, Weight loss, Hemiparesi... |
ORPHA:117 |
X-Linked Intellectual Disability, Snyder Type |
|
Mandibular prognathia, Dental crowding, High palate, Short philtrum, Thickened helices, Small ear... |
ORPHA:3063 |
Dermatoosteolysis, Kirghizian Type |
|
Skin ulcer, Dystrophic fingernails, Abnormality of the nail, Dystrophic toenail |
ORPHA:1657 |
Osteopetrosis, Autosomal Recessive 3 |
|
Short stature, Dental malocclusion |
OMIM:259730 |
Kleefstra Syndrome Due To A Point Mutation |
|
Natal tooth, Uplifted earlobe, Large for gestational age, Precocious puberty, Abnormality of the ... |
ORPHA:261652 |
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency |
|
Skin ulcer, Purpura |
ORPHA:743 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Ataxia, Head titubation, Kyphosis, Dysmetria, Dysphagia, Seizure, Dystonia, Intention tremor |
OMIM:619708 |
Camurati-Engelmann Disease |
|
Waddling gait, Mandibular prognathia, Carious teeth, Delayed puberty, Slender build, Hearing impa... |
OMIM:131300 |
Spondylometaphyseal Dysplasia, X-Linked |
|
Kyphosis, Platyspondyly, Thoracolumbar scoliosis |
OMIM:313420 |
H Syndrome |
|
Hypertriglyceridemia, Cleft upper lip, Bronchiectasis, Gingival overgrowth, Hepatosplenomegaly, C... |
ORPHA:168569 |
Senior-Loken Syndrome 9 |
|
Obesity |
OMIM:616629 |
Truncus Arteriosus |
|
Aortic regurgitation, Tachycardia, Ventricular septal defect, Abnormal heart valve morphology, Ca... |
ORPHA:3384 |
Blepharonasofacial Malformation Syndrome |
|
External ear malformation, Cryptorchidism, Non-midline cleft lip, Torsion dystonia, Cleft palate,... |
ORPHA:1252 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Cerebral palsy, Impulsivity, Aggressive behavior, Self-injurious behavior, Hypertonia, Abnormal r... |
OMIM:618914 |
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome |
|
Lower limb spasticity, Hypogonadotropic hypogonadism, Underdeveloped superior crus of antihelix, ... |
ORPHA:293967 |
Native American Myopathy |
|
Micrognathia, Cryptorchidism, Inability to walk, Conductive hearing impairment, Respiratory insuf... |
ORPHA:168572 |
Distal Xq28 Microduplication Syndrome |
|
Impulsivity, Aggressive behavior, Depression, Self-biting, Tip-toe gait, Stereotypical body rocki... |
ORPHA:293939 |
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Hypoplasia of the vagina, Dysmenorrhea, Decreased serum estradiol, Decreased circulating androgen... |
ORPHA:90796 |
Lig4 Syndrome |
|
Small for gestational age, Cryptorchidism, Asthma, Chronic sinusitis, Type II diabetes mellitus, ... |
OMIM:606593 |
Mast Cell Sarcoma |
|
Weight loss |
ORPHA:66661 |
Tatton-Brown-Rahman Syndrome |
|
Proportionate tall stature, Obesity, Proportionate short stature, Aggressive behavior |
ORPHA:404443 |
Immunodeficiency 27A |
|
Abnormal bronchus physiology, Pneumonia, Anorexia, Weight loss |
OMIM:209950 |
Pulmonary Arteriovenous Malformation |
|
Transient ischemic attack, Epistaxis, Myocardial infarction, Heart murmur, Telangiectasia, Ischem... |
ORPHA:2038 |
Carney Triad |
|
Gastrointestinal hemorrhage, Hypertension, Tachycardia, Arrhythmia |
ORPHA:139411 |
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Cleft lip, Sensorineural hearing impairment, Prima... |
OMIM:612702 |
Legionnaires Disease |
|
Fever, Pericarditis, Myocarditis, Hypotension, Arrhythmia |
ORPHA:549 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Short stature, Obesity |
OMIM:615630 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Alopecia, Pyoderma gangrenosum |
OMIM:616576 |
Heart Defects-Limb Shortening Syndrome |
|
Kyphosis, Abnormal form of the vertebral bodies |
ORPHA:1354 |
Primary Unilateral Adrenal Hyperplasia |
|
Hypertension, Palpitations, Epistaxis |
ORPHA:231580 |
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures |
|
Pain insensitivity, Bilateral tonic-clonic seizure, Infantile spasms, Inability to walk by childh... |
OMIM:620224 |
Prader-Willi Syndrome |
|
Small scrotum, Decreased response to growth hormone stimulation test, External genital hypoplasia... |
ORPHA:739 |
Griscelli Syndrome Type 2 |
|
Hepatomegaly, Splenomegaly, Hyperlipidemia, Jaundice, Hypertonia |
ORPHA:79477 |
Wiedemann-Rautenstrauch Syndrome |
|
Delayed eruption of teeth, Natal tooth, Hypertriglyceridemia, Small for gestational age, Pneumoni... |
OMIM:264090 |
Prader-Willi Syndrome Due To Translocation |
|
Respiratory distress, Hypopigmentation of hair, Short stature, Obesity, Head-banging, Seizure, Co... |
ORPHA:177907 |
Myopathic Ehlers-Danlos Syndrome |
|
Kyphoscoliosis, Hyperlordosis, Kyphosis, Tip-toe gait, Scoliosis |
ORPHA:536516 |
Combined Oxidative Phosphorylation Defect Type 29 |
|
Abnormal autonomic nervous system physiology, Optic neuropathy |
ORPHA:478029 |
Hyperthyroidism, Nonautoimmune |
|
Tachycardia |
OMIM:609152 |
Kleefstra Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of penis, Tented upper lip vermilion... |
ORPHA:261494 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3 |
|
Bilateral tonic-clonic seizure, Inability to walk, Generalized non-motor (absence) seizure, Myocl... |
OMIM:614207 |
Poems Syndrome |
|
Diabetes mellitus, Respiratory insufficiency due to muscle weakness, Abnormality of the endocrine... |
ORPHA:2905 |
Non-Syndromic Posterior Hypospadias |
|
Bifid scrotum, Small for gestational age, Abnormality of the endocrine system, Cryptorchidism, Ve... |
ORPHA:95706 |
Bone Dysplasia, Lethal Holmgren Type |
|
Failure to thrive, Respiratory insufficiency, Weight loss |
ORPHA:1842 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Cryptorchidism, Head-banging, Seizure, Attention deficit hyperactivity disorder, Frequent temper ... |
OMIM:619103 |
Rubinstein-Taybi Syndrome |
|
Failure to thrive in infancy, Micrognathia, Carious teeth, Cryptorchidism, Abnormality of the den... |
ORPHA:783 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Hepatomegaly, Bilateral tonic-clonic seizure, Pneumonia, Splenomegaly, Bronchiectasis |
ORPHA:436159 |
Acute Intermittent Porphyria |
|
Restlessness, Somatic sensory dysfunction, Confusion, Tremor, Respiratory insufficiency, Depressi... |
ORPHA:79276 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Elevated hepatic transaminase, Thin upper lip vermilion, Hepatic steatosis, Hepatomegaly, Ataxia,... |
OMIM:212065 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Highly arched eyebrow, Cryptorchidism, Kyphosis, Low anterior hairline, Seizure, Scoliosis, Compu... |
ORPHA:404440 |
Malignant Peritoneal Mesothelioma |
|
Dyspnea, Weight loss |
ORPHA:168811 |
Mucopolysaccharidosis-Plus Syndrome |
|
Respiratory distress, Inability to walk, Synophrys, Recurrent pneumonia, Low anterior hairline, L... |
OMIM:617303 |
Crisponi Syndrome |
|
Hypertonia, Kyphosis, Seizure, Scoliosis |
ORPHA:1545 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Heart block, Cardiomyopathy, Neonatal respiratory distress, Arrhythmia |
ORPHA:228308 |
Acrofacial Dysostosis, Catania Type |
|
Carious teeth, Cryptorchidism, Hypospadias |
OMIM:101805 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Highly arched eyebrow, Impaired pain sensation, Cryptorchidism, Kyphosis, Seizure, Long eyelashes... |
OMIM:619005 |
Autosomal Recessive Amelia |
|
Hypoplasia of penis, Small scrotum, Micrognathia, Cryptorchidism, Non-midline cleft lip, Orofacia... |
ORPHA:1027 |
Trisomy 20P |
|
Low-set, posteriorly rotated ears, Incoordination, Hypospadias, Micrognathia, Abnormality of the ... |
ORPHA:261318 |
De Barsy Syndrome |
|
Delayed eruption of teeth, Cryptorchidism, Small, conical teeth, Athetosis, Progressive cerebella... |
ORPHA:2962 |
Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Brittle hair, Kyphosis, Coarse hair, Scoliosis, Sparse hair |
ORPHA:1883 |
Developmental And Epileptic Encephalopathy 49 |
|
Hyperactivity, Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Myoclonic seizure, ... |
OMIM:617281 |
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay |
|
Elevated hemoglobin A1c, Tremor, Dyspnea, Babinski sign, Exertional dyspnea, Hypertonia, Cirrhosi... |
OMIM:616539 |
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Ataxia, Inability to walk, Seizure, Generalized ... |
OMIM:617193 |
Cohen Syndrome |
|
Failure to thrive in infancy, Aplasia/Hypoplasia of the tongue, Macrodontia, Micrognathia, Hypopl... |
ORPHA:193 |
Hutchinson-Gilford Progeria Syndrome |
|
Dental crowding, Short lingual frenulum, Micrognathia, High palate, Conductive hearing impairment... |
ORPHA:740 |
Macrocephaly-Developmental Delay Syndrome |
|
Seizure, Self-injurious behavior, Abnormal repetitive mannerisms |
ORPHA:397612 |
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy |
|
Hepatomegaly, Tented upper lip vermilion, Elevated circulating creatine kinase concentration, Clo... |
OMIM:619424 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Exaggerated startle response, Tremor, Respiratory failure, Fasciculations, Limb hypertonia |
OMIM:620327 |
Pancreatic And Cerebellar Agenesis |
|
Failure to thrive, Apnea |
OMIM:609069 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type |
|
Mandibular prognathia, Smooth philtrum, Broad-based gait, Dental crowding, Abnormal pinna morphol... |
OMIM:309583 |
Mucolipidosis Type Ii |
|
Respiratory failure requiring assisted ventilation, Dry hair, Short stature, Postnatal growth ret... |
ORPHA:576 |
Pseudohypoparathyroidism, Type Ia |
|
Delayed eruption of teeth, Obesity, Pseudohypoparathyroidism, Elevated circulating parathyroid ho... |
OMIM:103580 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Dental malocclusion, Narrow palate, High palate |
OMIM:182212 |
Agel Amyloidosis |
|
Ataxia, Facial palsy, Cardiomyopathy, Arrhythmia, Orthostatic hypotension due to autonomic dysfun... |
ORPHA:85448 |
Alagille Syndrome 1 |
|
Elevated hepatic transaminase, Failure to thrive, Hypertriglyceridemia, Hepatocellular carcinoma,... |
OMIM:118450 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Short nail, Short neck, Inability to walk, Focal motor seizure, Seizure, Irritability, Hypertonia... |
ORPHA:1675 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Absence of pubertal development, Decreased circula... |
OMIM:614837 |
Mirizzi Syndrome |
|
Fever, Tachycardia |
ORPHA:521219 |
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Reduced ci... |
ORPHA:2235 |
Lethal Recessive Chondrodysplasia |
|
Respiratory distress |
ORPHA:1423 |
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
|
Bilateral tonic-clonic seizure, Aggressive behavior, Synophrys, Poor coordination, Asthma, Genera... |
ORPHA:466943 |
German Syndrome |
|
Hypokinesia, Dysphagia |
ORPHA:2077 |
46,Xy Difference Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency |
|
Bifid scrotum, Hypoplasia of penis, Small scrotum, Abnormality of the endocrine system, Cryptorch... |
ORPHA:753 |
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Tremor, Vocal cord paralysis, Seizure, Dysphagia, Mitochondrial swelling |
ORPHA:397744 |
Acrocallosal Syndrome |
|
Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Micropenis, Prom... |
OMIM:200990 |
Neuromuscular Oculoauditory Syndrome |
|
Respiratory distress, Bilateral tonic-clonic seizure, Infantile spasms, Unsteady gait, Aspiration |
OMIM:618733 |
Frank-Ter Haar Syndrome |
|
Thin upper lip vermilion, Micrognathia, Dental malocclusion, Gingival overgrowth, Growth delay, W... |
OMIM:249420 |
Autosomal Recessive Malignant Osteopetrosis |
|
Pulmonary arterial hypertension, Abnormality of temperature regulation, Apnea, Chronic rhinitis |
ORPHA:667 |
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome |
|
Tremor, Babinski sign, Spastic paraplegia, Tip-toe gait, Gait disturbance |
ORPHA:83629 |
Ollier Disease |
|
Skin ulcer |
ORPHA:296 |
46,Xy Partial Gonadal Dysgenesis |
|
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... |
ORPHA:251510 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Ataxia, Cryptorchidism, Sensorineural hearing impairment, Abnormal pyramidal sign, Spastic tetrap... |
ORPHA:2719 |
Typical Nemaline Myopathy |
|
Waddling gait, Gait disturbance, Hypokinesia |
ORPHA:171436 |
19P13.12 Microdeletion Syndrome |
|
Self-injurious behavior, Hyperactivity, Obesity, Intrauterine growth retardation |
ORPHA:254346 |
Hypotonia, Ataxia, And Delayed Development Syndrome |
|
Speech apraxia, Broad-based gait, Pain insensitivity, Ataxia, Cryptorchidism, Synophrys, Dysmetri... |
OMIM:617330 |
Müllerian Aplasia And Hyperandrogenism |
|
Obesity, Primary amenorrhea, Cleft palate, Hypoplasia of the uterus, Protruding ear, Short philtr... |
ORPHA:247768 |
Farber Disease |
|
Respiratory distress, Short stature, Infantile spasms, Paraparesis, Respiratory insufficiency, Se... |
ORPHA:333 |
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Sensorineural hearing impairment, Cleft lip, Cleft... |
OMIM:612370 |
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome |
|
Obesity |
OMIM:194072 |
Insulin-Like Growth Factor I, Resistance To |
|
Severe short stature, Short stature, Growth delay, Truncal obesity, Agitation, Decreased body wei... |
OMIM:270450 |
Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Precocious puberty, Asthma, Sensorineural hearing impairment, Obesity, Delayed eruption of perman... |
OMIM:619269 |
Listeriosis |
|
Respiratory distress, Somatic sensory dysfunction, Ataxia, Pneumonia, Tremor, Hemiparesis, Seizur... |
ORPHA:533 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Hyperthyroidism, Small for gestational age, Thyrotoxicosis with diffuse goiter, Hand tremor, Weig... |
ORPHA:424 |
Pineoblastoma |
|
Cognitive impairment, Memory impairment, Lethargy, Progressive neurologic deterioration |
ORPHA:251909 |
Erdheim-Chester Disease |
|
Ataxia, Hypogonadotropic hypogonadism, Dyspnea, Weight loss, Cough, Pleural effusion, Diabetes in... |
ORPHA:35687 |
Familial Peripheral Male-Limited Precocious Puberty |
|
Male infertility, Macroorchidism, Oligozoospermia |
ORPHA:3000 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Delayed eruption of teeth, Bifid scrotum, Irregular dentition, Tented upper lip vermilion, Small ... |
OMIM:619148 |
Shashi-Pena Syndrome |
|
Highly arched eyebrow, Kyphosis, Synophrys, Seizure, Limb hypertonia, Long eyelashes, Scoliosis, ... |
OMIM:617190 |
Optic Atrophy-Intellectual Disability Syndrome |
|
Repetitive compulsive behavior, Seizure, Compulsive behaviors, Attention deficit hyperactivity di... |
ORPHA:401777 |
Tetrasomy 5P |
|
Respiratory distress, Postnatal growth retardation, Seizure, Pulmonary arterial hypertension, Fai... |
ORPHA:3309 |
Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Bilateral tonic-clonic seizure, Unsteady gait, Generalized non-motor (absence) seizure, Irritabil... |
OMIM:617798 |
Tsh-Secreting Pituitary Adenoma |
|
Tremor, Elevated circulating thyroid-stimulating hormone concentration, Male hypogonadism, Period... |
ORPHA:91347 |
Familial Nasal Acilia |
|
Respiratory distress, Dyspnea, Bronchiectasis, Chronic rhinitis, Chronic sinusitis |
ORPHA:922 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Abnormal EKG, Cardiomegaly, Chorea, Right bundle branch block, Reduced left ventricular ejection ... |
ORPHA:268 |
Argininemia |
|
Hyperactivity, Anorexia, Postnatal growth retardation, Seizure, Irritability, Progressive spastic... |
OMIM:207800 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Pulsatile tinnitus, Tremor, Vocal ... |
ORPHA:276621 |
Bardet-Biedl Syndrome 17 |
|
Polydipsia, Obesity |
OMIM:615994 |
Yao Syndrome |
|
Asthma, Oral ulcer, Weight loss |
OMIM:617321 |
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome |
|
Focal clonic seizure, Bilateral tonic-clonic seizure |
OMIM:618381 |
1P21.3 Microdeletion Syndrome |
|
Abnormal eating behavior, Aggressive behavior, Obesity, Self-injurious behavior, Self-mutilation |
ORPHA:293948 |
Benign Recurrent Intrahepatic Cholestasis |
|
Cholelithiasis, Hearing impairment, Weight loss |
ORPHA:65682 |
Spermatogenic Failure 28 |
|
Male infertility, Non-obstructive azoospermia, Decreased testicular size |
OMIM:618086 |
Canavan Disease |
|
Epileptic spasm, Bilateral tonic-clonic seizure |
OMIM:271900 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Natal tooth, Short stature, Dental crowding, Carious teeth, Supernumerary tooth, Talon cusp, Dent... |
ORPHA:353281 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Sparse hair, Abnormal fingernail morphology, Skin ulcer, Fine hair |
ORPHA:1806 |
Global Developmental Delay With Speech And Behavioral Abnormalities |
|
Thin upper lip vermilion, Supernumerary nipple, Micrognathia, Precocious puberty, Cryptorchidism,... |
OMIM:619243 |
Neuroendocrine Tumor Of The Colon |
|
Weight loss, Bronchospasm, Increased serum serotonin, Atypical pulmonary carcinoid tumor, Carcino... |
ORPHA:100080 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Small scrotum, Cryptorchidism, Neonatal asphyxia, Cleft palate, Hypoplasia of teeth, Microtia, Wi... |
ORPHA:2728 |
Kinsship Syndrome |
|
Sacral dimple, Bilateral tonic-clonic seizure, Spastic tetraparesis, Short neck, Focal-onset seiz... |
OMIM:619297 |
Camurati-Engelmann Disease |
|
Waddling gait, Delayed eruption of teeth, Ataxia, Cachexia, Carious teeth, Craniofacial osteoscle... |
ORPHA:1328 |
Cog5-Cdg |
|
Posteriorly rotated ears, Cryptorchidism, Sensorineural hearing impairment, High palate, Low-set ... |
ORPHA:263487 |
Metatropic Dysplasia |
|
Relatively short spine, Kyphoscoliosis, Hypoplasia of the odontoid process, Kyphosis, Long coccyx... |
OMIM:156530 |
Wilson Disease |
|
Limb dystonia, Dystonia, Decreased nerve conduction velocity, Hypoesthesia, Tremor, Hand tremor, ... |
OMIM:277900 |
Bachmann-Bupp Syndrome |
|
Lower limb spasticity, Thin upper lip vermilion, Large for gestational age, Cryptorchidism, Senso... |
OMIM:619075 |
Coffin-Lowry Syndrome |
|
Mandibular prognathia, Short stature, Thick lower lip vermilion, Dental malocclusion, Narrow pala... |
OMIM:303600 |
Hyperekplexia 2 |
|
Exaggerated startle response |
OMIM:614619 |
Intellectual Developmental Disorder, Autosomal Dominant 57 |
|
Kyphosis, Seizure, Tip-toe gait, Scoliosis, Compulsive behaviors, Attention deficit hyperactivity... |
OMIM:618050 |
Scimitar Syndrome |
|
Respiratory distress, Left-to-right shunt, Heart block, Congestive heart failure, Pneumothorax, C... |
ORPHA:185 |
Seckel Syndrome |
|
Short stature, Abnormal dental enamel morphology, Cachexia, Micrognathia, Tooth agenesis, Intraut... |
ORPHA:808 |
Metatropic Dysplasia |
|
Abnormal intervertebral disk morphology, Kyphosis, Abnormal form of the vertebral bodies, Scolios... |
ORPHA:2635 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Small for gestational age, Ataxia, Hypospadias, Cryptorchidism, Sensorineural hearing impairment,... |
OMIM:300661 |
Blue Diaper Syndrome |
|
Decreased circulating T4 concentration, Elevated circulating thyroid-stimulating hormone concentr... |
ORPHA:94086 |
Webb-Dattani Syndrome |
|
Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Cryptorchid... |
OMIM:615926 |
Septo-Optic Dysplasia Spectrum |
|
Hypoplasia of penis, Anterior pituitary hypoplasia, Maternal diabetes, Hemiplegia/hemiparesis, Cr... |
ORPHA:3157 |
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita |
|
Cryptorchidism, Kyphosis, Scoliosis, Short neck |
ORPHA:178148 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Respiratory distress, Failure to thrive in infancy, Pneumonia, Cachexia, Interstitial pneumonitis |
ORPHA:37042 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Pulsatile tinnitus, Tremor, Vocal ... |
ORPHA:29072 |
Zellweger Syndrome |
|
Hypospadias, Micrognathia, External ear malformation, Cryptorchidism, Sensorineural hearing impai... |
ORPHA:912 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Impaired vibratory sensation, Somatic sensory dysfunction, Tremor, Inability to walk, Respiratory... |
ORPHA:466768 |
Rauch-Steindl Syndrome |
|
Hyperactivity, Short stature, Aggressive behavior, Postnatal growth retardation, Intrauterine gro... |
OMIM:619695 |
16P12.1P12.3 Triplication Syndrome |
|
Tachycardia |
ORPHA:485405 |
Alveolar Echinococcosis |
|
Ataxia, Pancreatic cysts, Dyspnea, Weight loss, Hemiparesis, Abnormal adrenal morphology, Cough |
ORPHA:284 |
Microphthalmia, Syndromic 2 |
|
Delayed eruption of teeth, Short stature, Persistence of primary teeth, Supernumerary tooth, Subm... |
OMIM:300166 |
Ileal Neuroendocrine Tumor |
|
Tricuspid stenosis, Right ventricular failure, Arterial occlusion, Palpitations, Hypotension, Pul... |
ORPHA:100078 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Tremor, Confusion, Respiratory distress |
OMIM:274150 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Abnormal autonomic nervous system physiology, Recurrent fever, Heat intolerance |
ORPHA:453499 |
Sifrim-Hitz-Weiss Syndrome |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Cupped ear, Gait imbalance, Low-set ears, Ambiguou... |
OMIM:617159 |
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia |
OMIM:605676 |
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome |
|
Arrhythmia |
ORPHA:2878 |
Intellectual Developmental Disorder, Autosomal Dominant 47 |
|
Small for gestational age, Supernumerary nipple, Cryptorchidism, Wide mouth, Widely-spaced incisors |
OMIM:617635 |
Mucopolysaccharidosis, Type Iva |
|
Waddling gait, Ovoid vertebral bodies, Hyperlordosis, Short neck, Hypoplasia of the odontoid proc... |
OMIM:253000 |
Flat Face-Microstomia-Ear Anomaly Syndrome |
|
Low-set, posteriorly rotated ears, Small scrotum, Abnormal oral mucosa morphology, Micrognathia, ... |
ORPHA:1968 |
Steinert Myotonic Dystrophy |
|
Elevated hepatic transaminase, Respiratory failure requiring assisted ventilation, Tented upper l... |
ORPHA:273 |
9Q21.13 Microdeletion Syndrome |
|
Downturned corners of mouth, Cryptorchidism, Abnormal tongue morphology, Difficulty walking |
ORPHA:531151 |
Acute Promyelocytic Leukemia |
|
Metrorrhagia, Epistaxis, Productive cough, Gingival overgrowth, Weight loss, Gingival bleeding, S... |
ORPHA:520 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Respiratory failure, Sensorineural hearing impairment, Weight loss |
ORPHA:3226 |
Mosaic Variegated Aneuploidy Syndrome |
|
Aortic regurgitation, Apnea |
ORPHA:1052 |
Idiopathic Hypereosinophilic Syndrome |
|
Respiratory distress, Somatic sensory dysfunction, Confusion, Pulmonary embolism, Cough, Dyspnea,... |
ORPHA:3260 |
Lacrimoauriculodentodigital Syndrome 2 |
|
Conical tooth, Carious teeth, Cupped ear, Microtia, Hypodontia, Microdontia, Hearing impairment |
OMIM:620192 |
Wiedemann-Rautenstrauch Syndrome |
|
Tremor, Downturned corners of mouth, Hypertonia, Short philtrum, Premature loss of teeth, Hepatic... |
ORPHA:3455 |
Smith-Mccort Dysplasia 1 |
|
Waddling gait, Short neck, Hypoplasia of the odontoid process, Kyphosis, Atlantoaxial instability... |
OMIM:607326 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated hemoglobin A1c, Micro... |
OMIM:619127 |
Isolated Agammaglobulinemia |
|
Skin ulcer |
ORPHA:229717 |
Multiple Endocrine Neoplasia, Type Iia |
|
Hypertension, Aganglionic megacolon, Palpitations |
OMIM:171400 |
Acute Monoblastic/Monocytic Leukemia |
|
Progressive hearing impairment, Central hypothyroidism, Weight loss, Exertional dyspnea |
ORPHA:514 |
Odontochondrodysplasia |
|
Respiratory distress, Short stature |
ORPHA:166272 |
Amish Lethal Microcephaly |
|
Hepatomegaly, Bilateral tonic-clonic seizure |
ORPHA:99742 |
Peritoneal Cystic Mesothelioma |
|
Menorrhagia, Dyspareunia, Metrorrhagia, Weight loss |
ORPHA:168816 |
Distal Limb Deficiencies-Micrognathia Syndrome |
|
Microretrognathia, Low-set, posteriorly rotated ears, Hypoplasia of the maxilla, Cryptorchidism, ... |
ORPHA:1307 |
Meier-Gorlin Syndrome 3 |
|
Microretrognathia, Small scrotum, Hypospadias, Posteriorly rotated ears, Micrognathia, Hypoplasia... |
OMIM:613803 |
Autosomal Dominant Omodysplasia |
|
Bifid scrotum, Hypoplasia of penis, Micrognathia, Cryptorchidism, Long philtrum, Ambiguous genita... |
ORPHA:93328 |
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features |
|
Ataxia, Tremor, Babinski sign, Spastic paraplegia, Dysmetria, Spasticity |
OMIM:618527 |
D-Bifunctional Protein Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Bilateral tonic-clonic seizure, Fetal ascites, Splen... |
OMIM:261515 |
Van Esch-O'Driscoll Syndrome |
|
Sacral dimple, Impulsivity, Shyness, Unilateral vocal cord paralysis, Seizure, Scoliosis, Attenti... |
OMIM:301030 |
Diaphanospondylodysostosis |
|
Respiratory distress |
ORPHA:66637 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Tachycardia, Tricuspid ... |
ORPHA:99125 |
Acquired Central Diabetes Insipidus |
|
Weight loss |
ORPHA:95626 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Hypospadias, Repeated pneumothoraces, Dental crowding, Carious teeth, Cryptorchidism, Downturned ... |
OMIM:617602 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Respiratory distress, Dyspnea, Respiratory failure |
ORPHA:2759 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Fever, Hypoventilation, Central hypoventilation, Hypothermia, Asthma, Cardiorespiratory arrest |
ORPHA:293987 |
Microcephaly, Epilepsy, And Diabetes Syndrome 1 |
|
Elevated hepatic transaminase, Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilater... |
OMIM:614231 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Slow-growing hair, Short neck, Abnormal hair morphology, Cryptorchidism, Kyphosis, Uncombable hai... |
ORPHA:3082 |
Partial Androgen Insensitivity Syndrome |
|
Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ... |
ORPHA:90797 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation |
|
Aggressive behavior, Asthma, Obesity, Self-injurious behavior, Truncal obesity, Attention deficit... |
ORPHA:466950 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Small for gestational age, Decreased response to growth hormone stimulation test, Hypospadias, Mi... |
ORPHA:96182 |
Macs Syndrome |
|
Irregular dentition, Hypergonadotropic hypogonadism, Micrognathia, Cryptorchidism, Bronchiectasis... |
OMIM:613075 |
Bosma Arhinia Microphthalmia Syndrome |
|
Paranasal sinus hypoplasia, Cleft lip, Dental malocclusion, Cleft palate, Hypoplasia of teeth, Hi... |
OMIM:603457 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Polyphagia, Obesity, Short stature, Delayed puberty |
ORPHA:251004 |
Carpenter Syndrome 1 |
|
Abnormal pinna morphology, External genital hypoplasia, Persistence of primary teeth, Precocious ... |
OMIM:201000 |
Stankiewicz-Isidor Syndrome |
|
Hypospadias, Micrognathia, Cryptorchidism, Pineal cyst, Low-set ears, Shawl scrotum, Micropenis, ... |
OMIM:617516 |
Meier-Gorlin Syndrome 5 |
|
Small earlobe, Micrognathia, Hypoplasia of the maxilla, Cryptorchidism, Submucous cleft hard pala... |
OMIM:613805 |
Gm1-Gangliosidosis, Type I |
|
Short neck, Kyphosis, Hypoplastic vertebral bodies, Seizure, Hypertonia, Scoliosis, Beaking of ve... |
OMIM:230500 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Bilateral tonic-clonic seizure, Kyphoscoliosis, Cryptorchidism, Kyphosis, Hemivertebrae, Seizure,... |
OMIM:301040 |
Hypogonadotropic Hypogonadism 25 With Anosmia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Cryptorchidism, Primary amenorrhea, Micro... |
OMIM:618841 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Sex reversal, In... |
ORPHA:289548 |
Microcephalic Primordial Dwarfism, Dauber Type |
|
Severe intrauterine growth retardation, Severe postnatal growth retardation, Short stature, Obesity |
ORPHA:319675 |
Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Cryptorchidism, Kyphoscoliosis, Kyphosis, Scoliosis |
OMIM:618484 |
Solitary Fibrous Tumor |
|
Vaginal neoplasm, Weight loss, Prostate cancer, Hypoinsulinemia, Abnormal prostate morphology, Ut... |
ORPHA:2126 |
Koolen-De Vries Syndrome |
|
Vertebral fusion, Hypopigmentation of hair, Abnormality of hair texture, Cryptorchidism, Kyphosis... |
ORPHA:96169 |
Liposarcoma |
|
Paresthesia, Weight loss |
ORPHA:69078 |
Ivic Syndrome |
|
Arrhythmia |
ORPHA:2307 |
Beemer-Ertbruggen Syndrome |
|
Low-set, posteriorly rotated ears, Micrognathia, Cryptorchidism, Deep philtrum, Respiratory insuf... |
ORPHA:1237 |
Tuberous Sclerosis Complex |
|
Respiratory distress, Epileptic spasm, Hyperactivity, Infantile spasms, Aggressive behavior, Impu... |
ORPHA:805 |
9P13 Microdeletion Syndrome |
|
Highly arched eyebrow, Hand tremor, Myoclonus, Scoliosis, Bruxism, Attention deficit hyperactivit... |
ORPHA:324313 |
Mgat2-Cdg |
|
Respiratory distress, Infantile spasms, Stereotypical hand wringing, Seizure, Long eyelashes, Hyp... |
ORPHA:79329 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Thin upper lip vermilion, Posteriorly rotated ears, Decreased response to growth hormone stimulat... |
OMIM:241410 |
Pituitary Stalk Interruption Syndrome |
|
Ectopic posterior pituitary, Hypoplasia of penis, Adrenal hypoplasia, Hypothyroidism, Cryptorchid... |
ORPHA:95496 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Adrenal hypoplasia, Sex reversal, Increased circulating ren... |
ORPHA:168558 |
Diabetic Embryopathy |
|
Low-set, posteriorly rotated ears, Micrognathia, Cryptorchidism, Cleft palate, Microtia, Micropen... |
ORPHA:1926 |
Choanal Atresia |
|
Respiratory distress, Upper airway obstruction, Choking episodes, Tracheomalacia, Chronic sinusit... |
ORPHA:137914 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Tall stature, Cachexia |
ORPHA:109 |
Werner Syndrome |
|
Sparse scalp hair, Abnormal hair whorl, Lack of skin elasticity, Skin ulcer, Premature graying of... |
ORPHA:902 |
Hip Dysplasia, Beukes Type |
|
Kyphosis, Scoliosis |
ORPHA:2114 |
Schimke Immuno-Osseous Dysplasia |
|
Failure to thrive, Small for gestational age, Hyperlipidemia, Abnormal primary molar morphology, ... |
ORPHA:1830 |
White-Sutton Syndrome |
|
Hyperactivity, Short stature, Aggressive behavior, Obesity, Self-injurious behavior, Compulsive b... |
ORPHA:468678 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
Skin ulcer |
ORPHA:217390 |
Hyperphosphatasia-Intellectual Disability Syndrome |
|
Bilateral tonic-clonic seizure, Ataxia, Seizure, Gait disturbance, Myoclonus |
ORPHA:247262 |
Developmental Malformations-Deafness-Dystonia Syndrome |
|
Kyphosis, Generalized dystonia, Scoliosis, Dysphagia |
ORPHA:79107 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Mandibular prognathia, Hepatomegaly, Elevated hepatic transaminase, Hypertriglyceridemia, Acute p... |
OMIM:608594 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Spontaneous, recurrent epistaxis, Broad-based gait, Cachexia, Paralysis, Spastic paraplegia, Limb... |
ORPHA:2072 |
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome |
|
Posteriorly rotated ears, Micrognathia, Crowded maxillary incisors, Cryptorchidism, Narrow palate... |
ORPHA:2063 |
Infantile Myofibromatosis |
|
Abnormal hair morphology, Skin ulcer |
ORPHA:2591 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Posteriorly rotated ears, Micrognathia, Cryptorchidism, Respiratory insufficiency, Overgrowth, Na... |
OMIM:224410 |
Stt3A-Cdg |
|
Cryptorchidism, Micropenis, Failure to thrive, Small scrotum |
ORPHA:370921 |
Acrodysostosis |
|
Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Cryptorchidism, Open... |
ORPHA:950 |
Verloove Vanhorick-Brubakk Syndrome |
|
Micrognathia, Cryptorchidism, Abnormality of the parathyroid gland, Non-midline cleft lip, Cleft ... |
ORPHA:3429 |
Colchicine Poisoning |
|
Myocarditis, Congestive heart failure, Hypovolemia, Hypotension, Cardiogenic shock, Arrhythmia |
ORPHA:31824 |
Ohdo Syndrome, X-Linked |
|
Smooth philtrum, Small scrotum, Posteriorly rotated ears, Hearing impairment, Micrognathia, Crypt... |
OMIM:300895 |
Esophageal Atresia |
|
Respiratory distress, Small for gestational age, Failure to thrive in infancy, Laryngotracheomala... |
ORPHA:1199 |
Autosomal Dominant Epidermolytic Ichthyosis |
|
Weight loss |
ORPHA:312 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Abnormal hair morphology, Paronychia, Skin ulcer, Skin vesicle, Dystrophic fingernails |
ORPHA:2314 |
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
|
Mandibular prognathia, Posteriorly rotated ears, Large for gestational age, Gait ataxia, Dispropo... |
OMIM:617011 |
Pseudovaginal Perineoscrotal Hypospadias |
|
Bifid scrotum, Abnormality of the endocrine system, Cryptorchidism, Perineal hypospadias, Ambiguo... |
OMIM:264600 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Speech apraxia, Ataxia, Dental crowding, Tremor, Cryptorchidism, High, narrow palate, Narrow mout... |
OMIM:300967 |
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Epileptic spasm, Generalized-onset seizure, Ventricular septal defect, Bilateral tonic-clonic sei... |
OMIM:620024 |
Ruvalcaba Syndrome |
|
Cryptorchidism, Kyphosis, Seizure, Scoliosis, Abnormal vertebral epiphysis morphology, Generalize... |
ORPHA:3121 |
Bullous Pemphigoid |
|
Diabetes mellitus, Weight loss |
ORPHA:703 |
Ramos-Arroyo Syndrome |
|
Respiratory distress, Sparse scalp hair, Severe short stature, Decreased body weight, Severe fail... |
ORPHA:1051 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Mandibular prognathia, Hepatomegaly, Elevated hepatic transaminase, Hypertriglyceridemia, Acute p... |
OMIM:269700 |
Histidinemia |
|
Hyperactivity |
ORPHA:2157 |
Chitayat Syndrome |
|
Respiratory distress, Short stature, Tracheomalacia |
OMIM:617180 |
Warburg Micro Syndrome 3 |
|
Inability to walk, Bilateral tonic-clonic seizure, Myoclonic seizure |
OMIM:614222 |
Alg1-Cdg |
|
Kyphosis, Seizure, Scoliosis |
ORPHA:79327 |
Myhre Syndrome |
|
Mandibular prognathia, Thin upper lip vermilion, Small for gestational age, Ataxia, Hypoplasia of... |
OMIM:139210 |
Peripheral Primitive Neuroectodermal Tumor |
|
Neoplasm of the pancreas, Torticollis, Somatic sensory dysfunction, Metrorrhagia, Precocious pube... |
ORPHA:370348 |
Axenfeld-Rieger Syndrome, Type 2 |
|
Mandibular prognathia, Hypospadias, Hypoplasia of the maxilla, Cryptorchidism, Short philtrum, Ev... |
OMIM:601499 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Short stature, Obesity |
OMIM:618395 |
Trisomy 18 |
|
Hypertonia, Cachexia |
ORPHA:3380 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Natal tooth, Short stature, Dental crowding, Micrognathia, Postnatal growth retardation, Carious ... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Natal tooth, Short stature, Dental crowding, Micrognathia, Postnatal growth retardation, Carious ... |
ORPHA:353277 |
Carey-Fineman-Ziter Syndrome 1 |
|
Micrognathia, Trismus, Cryptorchidism, Pierre-Robin sequence, Sensorineural hearing impairment, R... |
OMIM:254940 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Increased urinary cortisol level, Paradoxical increased cortisol secretion on dexamethasone suppr... |
ORPHA:189427 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Respiratory distress, Short stature |
OMIM:617102 |
Polycythemia Vera |
|
Epistaxis, Pulmonary embolism, Respiratory insufficiency, Weight loss, Gingival bleeding, Tinnitus |
ORPHA:729 |
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cleft upper lip, Cryptorchidism, Sensorineural hearing impairment,... |
OMIM:147950 |
Familial Gestational Hyperthyroidism |
|
Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulating hormone recep... |
ORPHA:99819 |
Tick-Borne Encephalitis |
|
Speech apraxia, Somatic sensory dysfunction, Generalized-onset seizure, Incoordination, Anorexia,... |
ORPHA:297 |
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
Severe failure to thrive, Bilateral tonic-clonic seizure, Prolonged neonatal jaundice |
ORPHA:423479 |
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome |
|
Eunuchoid habitus, Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic... |
ORPHA:3044 |
Epilepsy, X-Linked 2, With Or Without Impaired Intellectual Development And Dysmorphic Features |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Generalized non-motor (absence) s... |
OMIM:301091 |
Neuroendocrine Tumor Of The Rectum |
|
Weight loss, Bronchospasm, Increased serum serotonin, Atypical pulmonary carcinoid tumor, Carcino... |
ORPHA:100081 |
Neuroendocrine Tumor Of Anal Canal |
|
Weight loss, Bronchospasm, Increased serum serotonin, Atypical pulmonary carcinoid tumor, Carcino... |
ORPHA:100082 |
Eosinophilic Fasciitis |
|
Paresthesia, Weight loss |
ORPHA:3165 |
Multiple Endocrine Neoplasia Type 1 |
|
Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic endocrine t... |
ORPHA:652 |
Arthrogryposis, Distal, Type 4 |
|
Torticollis, Kyphosis, Low anterior hairline, Low posterior hairline, Lumbar scoliosis, Scoliosis |
OMIM:609128 |
De Sanctis-Cacchione Syndrome |
|
Bilateral tonic-clonic seizure, Ataxia, Scissor gait, Choreoathetosis, Mental deterioration |
OMIM:278800 |
Wiedemann-Steiner Syndrome |
|
Sacral dimple, Hyperactivity, Aggressive behavior, Synophrys, Seizure, Long eyelashes, Low frustr... |
ORPHA:319182 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Neonatal respiratory distress, Broad-based gait, Apnea, Impulsivity, Asthma, Bruxism, Seizure, St... |
OMIM:619503 |
Rhizomelic Syndrome, Urbach Type |
|
Abnormal hair quantity, Kyphosis, Abnormal form of the vertebral bodies, Short neck |
ORPHA:3098 |
Omodysplasia 2 |
|
Dyspareunia, Tented upper lip vermilion, Hypospadias, Bilateral cleft lip, Posteriorly rotated ea... |
OMIM:164745 |
Odontochondrodysplasia 1 |
|
Respiratory distress, Mesomelic short stature, Short stature |
OMIM:184260 |
Distal Triplication 15Q |
|
Abnormal external genitalia, Micrognathia, Large for gestational age, Birth length greater than 9... |
ORPHA:314588 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Diabetes mellitus, Adrenal hyperplasia, Increased body weight, Increased circulating cortisol lev... |
OMIM:615830 |
Stüve-Wiedemann Syndrome |
|
Respiratory distress, Apnea, Impaired pain sensation, Asthma, Paresthesia |
ORPHA:3206 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Short neck, Low anterior hairline, Self-mutilation, Ataxia, Hyperlordosis, Stereotypical hand wri... |
OMIM:619950 |
Congenital Fiber-Type Disproportion Myopathy |
|
Dental crowding, Hypercapnia, Micrognathia, Respiratory insufficiency due to muscle weakness, Fat... |
ORPHA:2020 |
Spondyloepiphyseal Dysplasia Congenita |
|
Waddling gait, Restrictive ventilatory defect, Neonatal short-trunk short stature, Respiratory di... |
OMIM:183900 |
Retinal Dystrophy With Or Without Macular Staphyloma |
|
Truncal obesity, Short stature |
OMIM:617547 |
Ciliary Dyskinesia, Primary, 2 |
|
Respiratory distress, Sinusitis, Bronchiectasis, Immotile cilia, Ciliary dyskinesia |
OMIM:606763 |
Molybdenum Cofactor Deficiency, Complementation Group C |
|
Generalized myoclonic seizure, Generalized-onset seizure, Bilateral tonic-clonic seizure |
OMIM:615501 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Nail-biting, Broad-based gait, Pain insensitivity, Bilateral tonic-clonic seizure, Short neck, Ag... |
OMIM:620330 |
Cap Polyposis |
|
Weight loss |
ORPHA:160148 |
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities |
|
Neonatal respiratory distress, Micrognathia, Cryptorchidism, High palate, Atresia of the external... |
OMIM:602471 |
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
|
Dental malocclusion, High palate, Malar flattening, Retrognathia, Bifid uvula |
OMIM:601552 |
Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Ataxia, Cryptorchidism, Decreased DLCO, Oral leukoplakia, Hearing impairment |
OMIM:613990 |
Hydrolethalus |
|
Low-set, posteriorly rotated ears, Micrognathia, Cryptorchidism, Submucous cleft hard palate, Gin... |
ORPHA:2189 |
Bardet-Biedl Syndrome |
|
Low-set, posteriorly rotated ears, Hypoplasia of penis, Cryptorchidism, Obesity, Hypoplasia of th... |
ORPHA:110 |
Deeah Syndrome |
|
Neonatal respiratory distress, Decreased response to growth hormone stimulation test, Anterior pi... |
OMIM:619004 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Hyperactivity, Cryptorchidism, Kyphosis, Abnormal repetitive mannerisms, Seizure, Gait disturbanc... |
ORPHA:464306 |
Polyarteritis Nodosa |
|
Erythema, Skin ulcer |
ORPHA:767 |
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cleft upper lip, Cryptorchidism, Primary amenorrhea, Cleft palate,... |
OMIM:244200 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Bilateral tonic-clonic seizure, Sudden cardiac death, Pericardial effusion, Congestive heart fail... |
ORPHA:73224 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Dental crowding, Micrognathia, Hyperlipidemia, Hypoplasia of teeth, High palate, Narrow mouth, Pr... |
OMIM:608612 |
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
|
Micrognathia, Dental malocclusion, Localized hypoplasia of dental enamel, Conical incisor, Thin v... |
ORPHA:73223 |
Mucolipidosis Iii Gamma |
|
Hyperlordosis, Kyphosis, Scoliosis, Short neck |
OMIM:252605 |
2P15P16.1 Microdeletion Syndrome |
|
Lower limb spasticity, Supernumerary nipple, Sparse eyebrow, Kyphosis, Fine hair, Long eyelashes,... |
ORPHA:261349 |
Acth-Independent Macronodular Adrenal Hyperplasia |
|
Truncal obesity, Agitation |
OMIM:219080 |
Craniosynostosis And Dental Anomalies |
|
Mandibular prognathia, Delayed eruption of teeth, Short stature, Dental crowding, Hypoplasia of t... |
OMIM:614188 |
Spondyloepiphyseal Dysplasia Congenita |
|
Back pain, Waddling gait, Abnormally ossified vertebrae, Lumbar hyperlordosis, Short neck, Spinal... |
ORPHA:94068 |
Campomelic Dysplasia |
|
Respiratory distress, Neonatal respiratory distress, Apnea, Stridor, Seizure, Tracheomalacia, Tra... |
OMIM:114290 |
Weismann-Netter Syndrome |
|
Kyphosis, Horizontal sacrum, Scoliosis |
OMIM:112350 |
Bare Lymphocyte Syndrome, Type I |
|
Skin ulcer |
OMIM:604571 |
Difference Of Sex Development-Intellectual Disability Syndrome |
|
Abnormal hair pattern, Short neck, Kyphosis, Synophrys, Low posterior hairline, Spina bifida occulta |
ORPHA:2983 |
Gm1 Gangliosidosis Type 1 |
|
Exaggerated startle response, Dystonia, Gingival overgrowth, Hepatosplenomegaly, Macroglossia, Ab... |
ORPHA:79255 |
8P Inverted Duplication/Deletion Syndrome |
|
Micrognathia, Precocious puberty, Cryptorchidism, High, narrow palate, Macrotia, Abnormality of d... |
ORPHA:96092 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Enanthema, Dyspnea, Thyroiditis, Weight loss, Interstitial pneumonitis, Cough |
ORPHA:139402 |
Ciliary Dyskinesia, Primary, 45 |
|
Male infertility |
OMIM:618801 |
Noonan Syndrome 1 |
|
Short stature, Failure to thrive in infancy, Micrognathia, Postnatal growth retardation, High, na... |
OMIM:163950 |
Acrofacial Dysostosis, Catania Type |
|
Microretrognathia, Low-set, posteriorly rotated ears, Hypospadias, Abnormality of the dentition, ... |
ORPHA:1786 |
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis |
|
Sparse eyebrow, Short stature, Respiratory distress, Low posterior hairline |
OMIM:606164 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Truncal obesity, Agitation |
OMIM:610475 |
Trichothiodystrophy |
|
Hypoplasia of mandible relative to maxilla, Carious teeth, Cryptorchidism, High, narrow palate, A... |
ORPHA:33364 |
Acute Radiation Syndrome |
|
Seizure, Scaling skin, Skin ulcer |
ORPHA:454831 |
Weaver Syndrome |
|
Bilateral tonic-clonic seizure, Cryptorchidism, Kyphosis, Slurred speech, Generalized non-motor (... |
OMIM:277590 |
Gaucher Disease |
|
Hepatomegaly, Mitral valve calcification, Bilateral tonic-clonic seizure, Abnormal pericardium mo... |
ORPHA:355 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Cryptorchidism, Unsteady gait, Seizure, Scoliosis, Sparse hair, Loss of ambulation, Abnormal repe... |
OMIM:616682 |
Gaucher Disease, Type Iiic |
|
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve calcification,... |
OMIM:231005 |
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency |
|
Cerebral palsy, Abnormal circulating biopterin concentration, Parkinsonism, Oculogyric crisis, Hy... |
ORPHA:1578 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Simple febrile seizure, Cryptorchidism, Kyphosis, Abnormal repetitive mannerisms, Seizure, Gait d... |
ORPHA:464311 |
9Q33.3Q34.11 Microdeletion Syndrome |
|
Small scrotum, Abnormal pinna morphology, Epistaxis, Spastic tetraparesis, Inability to walk, Ast... |
ORPHA:495818 |
Rodrigues Blindness |
|
Sparse hair, Nasal flaring, Short stature, Fine hair |
OMIM:268320 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Angina pectoris, Low-output congestive heart failure, Cardiomyopathy, Palpitations, Arrhythmia |
ORPHA:565612 |
Cryptococcosis |
|
Respiratory distress, Pneumonia, Dyspnea, Seizure, Cough, Mental deterioration, Memory impairment... |
ORPHA:1546 |
Mucopolysaccharidosis, Type Ivb |
|
Ataxia, Ovoid vertebral bodies, Hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Plat... |
OMIM:253010 |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Ataxia, Postural tremor, Babinski sign, Truncal obesity, Lower limb hypertonia, Myoclonus, Aspira... |
OMIM:301072 |
Dextrocardia |
|
Abnormal EKG, T-wave inversion |
ORPHA:1666 |
Coffin-Lowry Syndrome |
|
Kyphosis, Abnormal form of the vertebral bodies, Seizure, Self-injurious behavior, Hypertonia, Ga... |
ORPHA:192 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Hypoplasia of penis, Protruding tongue, Cryptorchidism, Obesity, Downturned corners of mouth, Mac... |
ORPHA:96147 |
Joubert Syndrome 39 |
|
Overweight, Pain insensitivity, Hypoplastic left heart, Hypopnea |
OMIM:619562 |
Meier-Gorlin Syndrome 6 |
|
Microretrognathia, Small for gestational age, Decreased response to growth hormone stimulation te... |
OMIM:616835 |
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Mandibular prognathia, Low-set, posteriorly rotated ears, Large for gestational age, Gait ataxia,... |
ORPHA:457359 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Broad-based gait, Bilateral tonic-clonic seizure, Repetitive compulsive behavior, Generalized non... |
ORPHA:513456 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Ventricular septal defect, Overweight, Recurrent pneumonia, Seizure, Atrial septal defect |
OMIM:619769 |
Tyrosinemia Type 2 |
|
Tremor, Seizure, Ataxia |
ORPHA:28378 |
Xeroderma Pigmentosum |
|
Craniofacial hyperostosis, Ataxia, Abnormality of the dentition, Cryptorchidism, Sensorineural he... |
ORPHA:910 |
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Speech apraxia, Thin upper lip vermilion, Ataxia, Anterior pituitary hypoplasia, Supernumerary ni... |
ORPHA:466791 |
Mody |
|
Large for gestational age, Overweight, Transient neonatal diabetes mellitus, Insulin-resistant di... |
ORPHA:552 |
Meier-Gorlin Syndrome 1 |
|
Respiratory distress, Micrognathia, Hypoplasia of the maxilla, High palate, Microdontia, Micropen... |
OMIM:224690 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Posteriorly rotated ears, Decreased response to growth hormone stimulation test, Supernumerary ni... |
OMIM:213980 |
6Q Terminal Deletion Syndrome |
|
Low-set, posteriorly rotated ears, Hypospadias, Micrognathia, Phimosis, High, narrow palate, Obes... |
ORPHA:75857 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 |
|
Kyphosis, Scoliosis |
OMIM:130060 |
Osteosarcoma |
|
Weight loss |
ORPHA:668 |
Leprosy |
|
Steppage gait, Abnormality of the seventh cranial nerve, Epistaxis, Abnormal autonomic nervous sy... |
ORPHA:548 |
Pachyonychia Congenita |
|
Respiratory distress, Alopecia, Failure to thrive, Nail dystrophy |
ORPHA:2309 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Dyspnea, Weight loss, Bronchospasm, Increased serum serotonin, Carcinoid tumor, Neuroendocrine ne... |
ORPHA:100085 |
Fountain Syndrome |
|
Kyphosis, Synophrys, Abnormal form of the vertebral bodies, Seizure, Scoliosis, Spina bifida occu... |
ORPHA:3219 |
Okur-Chung Neurodevelopmental Syndrome |
|
Ataxia, Highly arched eyebrow, Synophrys, Scoliosis, Attention deficit hyperactivity disorder, Fr... |
OMIM:617062 |
Thanatophoric Dysplasia |
|
Abnormal sacroiliac joint morphology, Platyspondyly, Seizure, Kyphosis |
ORPHA:2655 |
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia |
|
Cryptorchidism, Primary amenorrhea, Cleft palate, Small pituitary gland, Micropenis, Decreased te... |
OMIM:614880 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Arrhythmia |
OMIM:171480 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Respiratory distress, Stridor, Failure to thrive |
OMIM:615595 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Decreased response to growth hormone stimulation test, Premature thelarche, Protruding ear, Hyper... |
ORPHA:268261 |
Trisomy 8Q |
|
Low-set, posteriorly rotated ears, Hypoplasia of penis, Micrognathia, Cryptorchidism, Non-midline... |
ORPHA:1752 |
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Respiratory distress, Bifid scrotum, Prominent scrotal raphe, Cryptorchidism, Aplasia/Hypoplasia ... |
ORPHA:1555 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Shortened QT interval |
ORPHA:99880 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Sparse scalp hair, Aggressive behavior, Sparse eyebrow, Kyphosis, Inability to walk, Seizure, Sco... |
ORPHA:464738 |
Chops Syndrome |
|
Short stature, Obesity, Aspiration pneumonia, Tracheomalacia, Chronic lung disease |
OMIM:616368 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Weight loss |
ORPHA:103910 |
Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone |
|
Congenital adrenal hypoplasia, Cryptorchidism, Micropenis, Decreased circulating luteinizing horm... |
OMIM:202150 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Respiratory distress, Tachycardia, Tricuspid regurgitation, Congestive heart failure, Stridor, Mi... |
ORPHA:505248 |
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema |
|
Respiratory distress, Upper airway obstruction |
ORPHA:100057 |
Intellectual Developmental Disorder, Autosomal Dominant 29 |
|
Hyperactivity, Aggressive behavior, Obesity, Self-injurious behavior, Attention deficit hyperacti... |
OMIM:616078 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Hepatomegaly, Bilateral tonic-clonic seizure, Elevated circulating aspartate aminotransferase con... |
OMIM:280000 |
Bone Marrow Failure Syndrome 3 |
|
Hearing impairment, Micrognathia, Pancreatic steatosis, Cryptorchidism, Cupped ear, Oral ulcer, D... |
OMIM:617052 |
Combined Deficiency Of Factor V And Factor Viii |
|
Epistaxis, Hyperlipidemia, Hyperuricemia, Gingival bleeding |
ORPHA:35909 |
Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Chapped lip, Abnormal dental morphology, Abnormality of the dentition, Carious teeth, Abnormal to... |
ORPHA:158668 |
Addison Disease |
|
Hypoparathyroidism, Decreased circulating cortisol level, Premature ovarian insufficiency, Primar... |
ORPHA:85138 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Back pain, Lumbar hyperlordosis, Short neck, Kyphosis, Platyspondyly, Hump-shaped mound of bone i... |
OMIM:313400 |
Chromosome Xp11.3 Deletion Syndrome |
|
Asthma, Bilateral tonic-clonic seizure |
OMIM:300578 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Hyperactivity, Bilateral tonic-clonic seizure, Tonic seizure, Cryptorchidism, Synophrys, Low ante... |
OMIM:619512 |
Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Male infertility |
OMIM:300991 |
Deafness-Enamel Hypoplasia-Nail Defects Syndrome |
|
Arrhythmia |
ORPHA:3220 |
Arthrogryposis, Distal, Type 5 |
|
Kyphosis, Hypertonia, Scoliosis |
OMIM:108145 |
Gabriele-De Vries Syndrome |
|
Waddling gait, Abnormality of upper lip vermillion, Small for gestational age, Decreased response... |
ORPHA:506358 |
Parathyroid Carcinoma |
|
Shortened QT interval |
ORPHA:143 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Conjugated hyperbilirubinemia, Hypoalbuminemia, Hepatic fibrosis, Intrahepatic bile duct dilatati... |
OMIM:619534 |
Arboleda-Tham Syndrome |
|
Respiratory distress, Neonatal respiratory distress, Dystonia, Highly arched eyebrow, Growth dela... |
OMIM:616268 |
Orofaciodigital Syndrome Type 1 |
|
Micrognathia, Tremor, Lobulated tongue, High palate, Ataxia, Abnormal dental enamel morphology, A... |
ORPHA:2750 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertrigly... |
OMIM:256040 |
Primary Hyperoxaluria |
|
Optic disc pallor, Heart block, Raynaud phenomenon, Arterial occlusion, Optic atrophy, Cardiomyop... |
ORPHA:416 |
Thymoma |
|
Dyspnea, Weight loss, Prostate neoplasm, Cough, Neoplasm of the thyroid gland |
ORPHA:99867 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Hyperactivity, Aggressive behavior |
ORPHA:85327 |
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome |
|
Truncal obesity |
ORPHA:3224 |
Hypermobile Ehlers-Danlos Syndrome |
|
Arrhythmia, Apnea |
ORPHA:285 |
Felty Syndrome |
|
Rhinitis, Sinusitis, Recurrent pneumonia, Weight loss |
ORPHA:47612 |
Mucopolysaccharidosis Type 4 |
|
Hyperlordosis, Short neck, Kyphosis, Spinal canal stenosis, Platyspondyly, Gait disturbance, Scol... |
ORPHA:582 |
Pseudoachondroplasia |
|
Waddling gait, Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Platyspondyly,... |
OMIM:177170 |
Retinitis Pigmentosa 74 |
|
Obesity |
OMIM:616562 |
Slc35A1-Cdg |
|
Respiratory distress, Pneumonia, Hypoxemia |
ORPHA:238459 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulat... |
ORPHA:95699 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Fever, Tachycardia, Syncope, Hypotension |
ORPHA:98849 |
Toluene Embryopathy |
|
Micrognathia, Cryptorchidism, Protruding ear, Thin vermilion border, Hypoplasia of the zygomatic ... |
ORPHA:1920 |
16P11.2P12.2 Microdeletion Syndrome |
|
Arrhythmia, Tricuspid regurgitation |
ORPHA:261211 |
Sickle Cell Disease |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Jaundice, Splenic infarction, Hypoxemia, Hypertension, ... |
OMIM:603903 |
Cono-Spondylar Dysplasia |
|
Short nail, Short neck, Kyphosis, Poor coordination, Seizure, Scoliosis |
ORPHA:420794 |
Hypoglossia With Situs Inversus |
|
Respiratory distress, Upper airway obstruction |
OMIM:612776 |
Desbuquois Dysplasia 2 |
|
Neonatal respiratory distress, Severe short stature, Postnatal growth retardation, Truncal obesit... |
OMIM:615777 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Vaginal neoplasm, Abnormality of the female genitalia, Dyspnea, Sensorineural hearing impairment,... |
ORPHA:1018 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Hepatomegaly, Neonatal respiratory distress, Elevated circulating creatine kinase concentration, ... |
ORPHA:157 |
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia |
|
Obesity |
OMIM:608624 |
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
|
Ataxia, Small for gestational age, Choreoathetosis, Arrhythmia, Dysphagia, Hypertrophic cardiomyo... |
OMIM:615471 |
Congenital Myopathy 22B, Severe Fetal |
|
Waddling gait, Respiratory distress, Synophrys, Pleural effusion, Frequent falls |
OMIM:620369 |
Hydranencephaly |
|
Postnatal growth retardation, Intrauterine growth retardation, Lethargy |
ORPHA:2177 |
Granulomatosis With Polyangiitis |
|
Sinusitis, Oral ulcer, Respiratory insufficiency, Weight loss, Cough, Rhinorrhea |
OMIM:608710 |
Zollinger-Ellison Syndrome |
|
Increased urinary cortisol level, Hyperparathyroidism, Pituitary null cell adenoma, Elevated circ... |
ORPHA:913 |
Pituitary Adenoma 4, Acth-Secreting |
|
Abdominal obesity, Obesity |
OMIM:219090 |
Eosinophilic Gastroenteritis |
|
Asthma, Allergic rhinitis, Weight loss |
ORPHA:2070 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Respiratory distress, Seizure, Pulmonary arterial hypertension, Supernumerary nipple |
ORPHA:2519 |
Ohdo Syndrome, Sbbys Variant |
|
Thin upper lip vermilion, Hypospadias, Posteriorly rotated ears, Micrognathia, Cryptorchidism, Cl... |
OMIM:603736 |
Osteogenesis Imperfecta, Type Ix |
|
Kyphosis, Platyspondyly, Scoliosis |
OMIM:259440 |
Neuroendocrine Tumor Of Stomach |
|
Increased circulating ACTH level, Weight loss, Bronchospasm, Atypical pulmonary carcinoid tumor, ... |
ORPHA:100075 |
Carney Complex |
|
Increased body weight, Thyroid carcinoma, Papillary thyroid carcinoma, Leydig cell neoplasia, Ova... |
ORPHA:1359 |
Severe Congenital Nemaline Myopathy |
|
Hypokinesia, Dysphagia |
ORPHA:171430 |
Recombinant 8 Syndrome |
|
Small scrotum, Micrognathia, Cleft upper lip, Cryptorchidism, Abnormality of the dentition, Gingi... |
ORPHA:96167 |
Lateral Meningocele Syndrome |
|
Craniofacial hyperostosis, Dental crowding, Posteriorly rotated ears, Micrognathia, Abnormality o... |
ORPHA:2789 |
Familial Multiple Lipomatosis |
|
Premature eruption of permanent teeth, Hyperlipidemia, Odontogenic keratocysts of the jaw |
ORPHA:199276 |
Diaphanospondylodysostosis |
|
Respiratory distress, Disproportionate short-trunk short stature, Respiratory insufficiency, Trac... |
OMIM:608022 |
Heterotaxy, Visceral, 1, X-Linked |
|
Respiratory distress, Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the great a... |
OMIM:306955 |
Diamond-Blackfan Anemia |
|
Short stature, Cleft soft palate, Small for gestational age, Micrognathia, Cleft lip, Growth dela... |
ORPHA:124 |
Lowe Oculocerebrorenal Syndrome |
|
Elevated circulating creatine kinase concentration, Elevated maternal serum alpha-fetoprotein, Bi... |
OMIM:309000 |
Monosomy 13Q34 |
|
Growth delay, Epistaxis, Obesity |
ORPHA:96168 |
Cohen Syndrome |
|
Small for gestational age, Childhood-onset truncal obesity, Short stature, Delayed puberty |
OMIM:216550 |
Lymphedema-Distichiasis Syndrome |
|
Arrhythmia |
ORPHA:33001 |
Diastrophic Dysplasia |
|
Cryptorchidism, Kyphosis, Abnormal form of the vertebral bodies, Scoliosis, Hypoplastic cervical ... |
ORPHA:628 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Thin upper lip vermilion, Streak ovary, Hypergonadotropic hypogonadism, Hearing impairment, Non-o... |
ORPHA:2232 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Short stature, Overweight, Head-banging, Self-injurious behavior, Attention deficit hyperactivity... |
OMIM:619575 |
Sanjad-Sakati Syndrome |
|
Hypoparathyroidism, Low-set, posteriorly rotated ears, Hypoplasia of penis, Abnormal dental ename... |
ORPHA:2323 |
Miller-Dieker Lissencephaly Syndrome |
|
Delayed eruption of teeth, Thick upper lip vermilion, Thin upper lip vermilion, Posteriorly rotat... |
OMIM:247200 |
Aromatase Deficiency |
|
Eunuchoid habitus, Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism... |
ORPHA:91 |
Cryoglobulinemic Vasculitis |
|
Petechiae, Skin ulcer, Purpura |
ORPHA:91138 |
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form |
|
Bilateral tonic-clonic seizure |
ORPHA:79350 |
Orofacial Cleft 15 |
|
Agenesis of lateral incisor, Bilateral cleft palate, Bilateral cleft lip, Cryptorchidism, Protrud... |
OMIM:616788 |
Helsmoortel-Van Der Aa Syndrome |
|
Hyperactivity, Tonic seizure, Hyperlordosis, Cryptorchidism, Typical absence seizure, Abnormal re... |
OMIM:615873 |
Williams-Beuren Syndrome |
|
Incoordination, Failure to thrive in infancy, Hypercalcemia, Portal hypertension, Thick lower lip... |
OMIM:194050 |
Methanol Poisoning |
|
Hyperlipidemia |
ORPHA:31825 |
Nocardiosis |
|
Respiratory distress, Pneumonia, Anorexia, Productive cough, Nonproductive cough, Dyspnea, Pneumo... |
ORPHA:31204 |
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome |
|
Mandibular prognathia, Microretrognathia, Thin upper lip vermilion, Ataxia, Hypospadias, Antevert... |
ORPHA:459070 |
Restrictive Dermopathy 2 |
|
Respiratory distress, Intrauterine growth retardation |
OMIM:619793 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Respiratory distress, Failure to thrive, Respiratory insufficiency |
ORPHA:367 |
Crome Syndrome |
|
Cerebellar dysplasia |
OMIM:218900 |
Microsporidiosis |
|
Sinusitis, Pneumonia, Cachexia, Weight loss, Rhinitis |
ORPHA:2552 |
Congenital Diaphragmatic Hernia |
|
Respiratory distress, Hypoxemia |
ORPHA:2140 |
Ciliary Dyskinesia, Primary, 34 |
|
Male infertility, Immotile sperm |
OMIM:617091 |
Pyoderma Gangrenosum |
|
Skin vesicle, Skin ulcer |
ORPHA:48104 |
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Pyoderma gangrenosum |
OMIM:604416 |
Congenital Disorder Of Glycosylation, Type Il |
|
Kyphosis, Seizure, Short neck |
OMIM:608776 |
Graft Versus Host Disease |
|
Tachycardia, Pneumonia |
ORPHA:39812 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Atrial septal defect, Bilateral tonic-clonic seizure, Small for gestational age, Seizure, Pulmoni... |
OMIM:257300 |
Imerslund-Gräsbeck Syndrome |
|
Tachycardia |
ORPHA:35858 |
Chediak-Higashi Syndrome |
|
Spontaneous, recurrent epistaxis, Hypopigmentation of hair, Ataxia, Tremor, Silver-gray hair, Sei... |
OMIM:214500 |
Rothmund-Thomson Syndrome, Type 2 |
|
Mandibular prognathia, Delayed eruption of teeth, Small for gestational age, Underfolded helix, M... |
OMIM:268400 |
Granulomatosis With Polyangiitis |
|
Sinusitis, Epistaxis, Abnormal oral cavity morphology, Prostatitis, Chronic pulmonary obstruction... |
ORPHA:900 |
X-Linked Mandibulofacial Dysostosis |
|
Low-set, posteriorly rotated ears, Micrognathia, Cryptorchidism, Sensorineural hearing impairment... |
ORPHA:1131 |
1Q44 Microdeletion Syndrome |
|
Abnormal cardiac septum morphology, Bilateral tonic-clonic seizure |
ORPHA:238769 |
Papa Syndrome |
|
Skin ulcer |
ORPHA:69126 |
Bloom Syndrome |
|
Small for gestational age, Decreased fertility in females, Cryptorchidism, Bronchiectasis, Agenes... |
OMIM:210900 |
Spondyloocular Syndrome |
|
Unilateral cryptorchidism, Posteriorly rotated ears, Abnormality of the dentition, Sensorineural ... |
OMIM:605822 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Respiratory distress, Short stature, Seizure, Unilateral breast hypoplasia, Hypertrichosis |
OMIM:300968 |
Spermatogenic Failure 14 |
|
Male infertility, Azoospermia |
OMIM:615842 |
Nijmegen Breakage Syndrome |
|
Respiratory failure, Recurrent pneumonia, Cachexia |
ORPHA:647 |
Distal Deletion 3P |
|
Low-set, posteriorly rotated ears, Micrognathia, Cryptorchidism, Cleft palate, Downturned corners... |
ORPHA:1620 |
Ellis Van Creveld Syndrome |
|
Delayed eruption of teeth, Hypospadias, Abnormal oral mucosa morphology, Abnormality of the denti... |
ORPHA:289 |
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Broad-based gait, Hypospadias, Micrognathia, Cryptorchidism, Hypoplastic labia minora, Tented phi... |
ORPHA:495875 |
Myhre Syndrome |
|
Mandibular prognathia, Craniofacial hyperostosis, Abnormal penis morphology, Hypospadias, Externa... |
ORPHA:2588 |
Koolen-De Vries Syndrome |
|
Vertebral fusion, Sacral dimple, Hyperactivity, Impulsivity, Abnormality of hair texture, Cryptor... |
OMIM:610443 |
Becker Nevus Syndrome |
|
Kyphosis, Spina bifida occulta, Supernumerary nipple, Scoliosis |
ORPHA:64755 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy... |
ORPHA:99889 |
Mirage Syndrome |
|
Hypergonadotropic hypogonadism, Hypospadias, Adrenal hypoplasia, Cryptorchidism, Paraplegia, Adre... |
OMIM:617053 |
Vipoma |
|
Neoplasm of the pancreas, Diabetes mellitus, Follicular thyroid carcinoma, Elevated circulating g... |
ORPHA:97282 |
Dyskeratosis Congenita |
|
Abnormal eyebrow morphology, Alopecia, Abnormal fingernail morphology, Abnormal eyelash morpholog... |
ORPHA:1775 |
Aorta Coarctation |
|
Bicuspid aortic valve, Cardiomegaly, Congestive heart failure, Aortic valve atresia, Hypertension... |
ORPHA:1457 |
Hennekam-Beemer Syndrome |
|
Telangiectasia of the skin, Pneumonia, Respiratory insufficiency, Irritability, Hypotension, Arrh... |
ORPHA:2135 |
Spermatogenic Failure, X-Linked, 4 |
|
Male infertility, Azoospermia |
OMIM:301077 |
Kaposi Sarcoma |
|
Weight loss |
ORPHA:33276 |
Thanatophoric Dysplasia Type 2 |
|
Kyphosis, Platyspondyly, Seizure |
ORPHA:93274 |
Ulnar-Mammary Syndrome |
|
Arrhythmia, Abnormality of temperature regulation |
ORPHA:3138 |
Phakomatosis Pigmentokeratotica |
|
Raynaud phenomenon, Arrhythmia |
ORPHA:2874 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Cerebellar dysplasia, Partial absence of cerebellar vermis, Cerebellar hypoplasia, Agenesis of co... |
OMIM:613150 |
16Q24.3 Microdeletion Syndrome |
|
Highly arched eyebrow, Abnormal hair pattern, Cryptorchidism, Kyphosis, Seizure, Scoliosis, Dysph... |
ORPHA:261250 |
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Bifid scrotum, Adrenal hyperplasia, Hypospadias, Scrotal hypospadias, Cryptorchidism, Male pseudo... |
OMIM:201810 |
Trisomy 13 |
|
Abnormal eyelash morphology, Cryptorchidism, Kyphosis, Seizure, Scoliosis |
ORPHA:3378 |
Molybdenum Cofactor Deficiency, Complementation Group B |
|
Seizure, Bilateral tonic-clonic seizure, Myoclonic spasms, Irritability |
OMIM:252160 |
Distal Deletion 12Q |
|
Micrognathia, High, narrow palate, Proportionate tall stature, Micropenis, Supernumerary tooth, O... |
ORPHA:96149 |
Nasolacrimal Duct Cyst |
|
Intercostal retractions, Episodic respiratory distress, Stridor, Paroxysmal dyspnea, Abnormal bre... |
ORPHA:141083 |
Ruvalcaba Syndrome |
|
Cryptorchidism, Kyphosis, Scoliosis |
OMIM:180870 |
Marfan Syndrome |
|
Spontaneous pneumothorax, Cachexia, Disproportionate tall stature, Emphysema, Slender build |
ORPHA:558 |
Secondary Short Bowel Syndrome |
|
Growth delay, Failure to thrive, Weight loss |
ORPHA:95427 |
Aicardi-Goutieres Syndrome 7 |
|
Lower limb spasticity, Pneumonia, Spastic tetraparesis, Tetraplegia, Weight loss, Seizure, Irrita... |
OMIM:615846 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Respiratory distress, Seizure, Short stature |
OMIM:610536 |
Micro Syndrome |
|
Cryptorchidism, Kyphosis, Seizure, Scoliosis, Spasticity, Generalized hirsutism |
ORPHA:2510 |
Dominant Beta-Thalassemia |
|
High-output congestive heart failure, Arrhythmia, Dilated cardiomyopathy, Recurrent fever |
ORPHA:231226 |
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Hepatomegaly, Ataxia, Splenomegaly, Jaundice, Seizure, Convulsive status epilepticus |
OMIM:608885 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Male infertility, Primary testicular failure, Weight loss, Oligozoospermia, Hypogonadism, Abnorma... |
ORPHA:85450 |
Cutis Laxa, Autosomal Recessive, Type Iiib |
|
Posteriorly rotated ears, Prominent ear helix, Cryptorchidism, Athetosis, Thin vermilion border |
OMIM:614438 |
Generalized Pustular Psoriasis |
|
Overweight, Obesity |
ORPHA:247353 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Respiratory distress, Respiratory failure |
OMIM:617895 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Abnormal testis morphology, Weight loss |
ORPHA:54251 |
Craniopharyngioma |
|
Proportionate short stature, Postnatal growth retardation, Obesity, Growth delay, Delayed puberty... |
ORPHA:54595 |
Spinal muscular atrophy, type I, with congenital bone fractures |
|
Respiratory distress, Hypertrichosis |
OMIM:271225 |
Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
|
Kyphosis, Scoliosis |
OMIM:300676 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Craniofacial osteosclerosis, Weight loss |
ORPHA:324964 |
Igg4-Related Aortitis |
|
Asthma, Weight loss |
ORPHA:449400 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
Arrhythmia |
OMIM:619184 |
Atelis Syndrome 2 |
|
Sacral dimple, Kyphosis, Dysmetria, Seizure, Attention deficit hyperactivity disorder |
OMIM:620185 |
Woodhouse-Sakati Syndrome |
|
Hyperlipidemia, Choreoathetosis, Abnormality of extrapyramidal motor function, Dystonia, Anodontia |
OMIM:241080 |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Supernumerary nipple, Cryptorchidism, Obesity, Overfolded helix, High palate, Difficulty walking,... |
OMIM:618653 |
Frank-Ter Haar Syndrome |
|
Kyphosis, Beaking of vertebral bodies, Scoliosis |
ORPHA:137834 |
Reynolds Syndrome |
|
Skin ulcer, Dysphagia |
ORPHA:779 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Multifocal seizures, Bilateral tonic-clonic seizure, Highly arched eyebrow, Infantile spasms, Spa... |
OMIM:301044 |
Amoebiasis Due To Entamoeba Histolytica |
|
Dyspnea, Weight loss, Pleural empyema, Cough, Pleural effusion |
ORPHA:67 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Respiratory distress, Torticollis, Repeated pneumothoraces, Postnatal growth retardation, Respira... |
ORPHA:536467 |
Nivelon-Nivelon-Mabille Syndrome |
|
Focal-onset seizure, Bilateral tonic-clonic seizure |
OMIM:600092 |
Noonan Syndrome With Multiple Lentigines |
|
Bundle branch block, Myocardial infarction, Arrhythmia, Pulmonic stenosis, Hypertrophic cardiomyo... |
ORPHA:500 |
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Male infertility, Short sperm flagella, Coiled sperm flagella |
OMIM:620197 |
Distal Duplication 5Q |
|
Hypospadias, Micrognathia, Carious teeth, Cryptorchidism, Thin vermilion border, Aplasia/Hypoplas... |
ORPHA:96097 |
Neurotrophic Keratopathy |
|
Allodynia, Hyperesthesia |
ORPHA:137596 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Cachexia |
ORPHA:1969 |
Neuropathy, Hereditary Sensory And Autonomic, Type Ic |
|
Skin ulcer |
OMIM:613640 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Fused cervical vertebrae, Hyperlordosis, Kyphosis, Short neck |
ORPHA:2522 |
Fucosidosis |
|
Kyphosis, Abnormal pyramidal sign, Spastic tetraplegia, Seizure, Anterior beaking of lumbar verte... |
ORPHA:349 |
3Q29 Microduplication Syndrome |
|
Camptodactyly of toe, Obesity |
ORPHA:251038 |
Carpenter Syndrome 2 |
|
Carious teeth, High, narrow palate, Dental malocclusion, Obesity, Narrow palate, High palate, Lon... |
OMIM:614976 |
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Arrhythmia, Aganglionic megacolon, Ataxia |
ORPHA:163746 |
Monosomy 22Q13.3 |
|
Dental crowding, Impaired pain sensation, Dental malocclusion, Obesity, Malar flattening |
ORPHA:48652 |
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome |
|
Kyphosis |
ORPHA:77300 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iib |
|
Acral ulceration |
OMIM:613115 |
Wolf-Hirschhorn Syndrome |
|
Low-set, posteriorly rotated ears, Ataxia, Hypospadias, Abnormality of the philtrum, Micrognathia... |
ORPHA:280 |
Acute Adrenal Insufficiency |
|
Decreased circulating cortisol level, Decreased female libido, Adrenal hypoplasia, Primary adrena... |
ORPHA:95409 |
Occipital Horn Syndrome |
|
Hypothermia |
ORPHA:198 |
Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Truncal obesity, Agitation |
OMIM:610489 |
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Vertebral fusion, Kyphosis, Hemivertebrae, Abnormal form of the vertebral bodies, Low posterior h... |
ORPHA:2916 |
Carney-Stratakis Syndrome |
|
Tinnitus, Hearing impairment, Weight loss |
ORPHA:97286 |
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:618948 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Melanonychia, Abnormal eyelash morphology, Abnormal hair morphology, Leukonychia, Skin ulcer, Sei... |
ORPHA:2526 |
Kabuki Syndrome |
|
Hypoplasia of penis, Hypospadias, Abnormal dental morphology, Lip pit, Abnormality of the dentiti... |
ORPHA:2322 |
Cystic Echinococcosis |
|
Ovarian cyst, Asthma, Abnormality of the testis size, Weight loss |
ORPHA:400 |
Ring Chromosome 12 Syndrome |
|
Small for gestational age, Cryptorchidism, High, narrow palate, Glandular hypospadias, Uterine le... |
ORPHA:1439 |
Dermatomyositis |
|
Fever, Pericarditis, Telangiectasia of the skin, Myocardial infarction, Myocarditis, Vasculitis, ... |
ORPHA:221 |
X Small Rings |
|
Bicuspid aortic valve, Bilateral tonic-clonic seizure, Ventricular septal defect, Seizure, Mitral... |
ORPHA:96201 |
Congenital Tufting Enteropathy |
|
Failure to thrive, Orofacial cleft, Weight loss |
ORPHA:92050 |
Holoprosencephaly |
|
Hypoplasia of penis, Chorea, Deep philtrum, Diabetes insipidus, Bilateral cleft lip, Cryptorchidi... |
ORPHA:2162 |
Hereditary Angioedema Type 1 |
|
Respiratory distress, Dyspnea, Paresthesia, Dysphagia, Inspiratory stridor |
ORPHA:100050 |
Familial Mediterranean Fever |
|
Fever, Pericarditis, Myocardial infarction, Vasculitis, Arrhythmia |
ORPHA:342 |
Nephroblastoma |
|
Weight loss |
ORPHA:654 |
Kawasaki Disease |
|
Fever, Pericarditis, Myocarditis, Congestive heart failure, Vasculitis, Arrhythmia |
ORPHA:2331 |
Bruck Syndrome 1 |
|
Kyphosis, Platyspondyly, Scoliosis, Vertebral wedging |
OMIM:259450 |
Cohen-Gibson Syndrome |
|
Cryptorchidism, Macrotia, Poor coordination, Overgrowth, Gait disturbance, Long ear, Low-set ears... |
OMIM:617561 |
Squamous Cell Carcinoma Of The Anal Canal |
|
Skin ulcer |
ORPHA:424019 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Kyphosis, Seizure, Scoliosis, Sparse hair, Spasticity |
OMIM:616449 |
Cowden Syndrome 5 |
|
Kyphosis, Hydrocele testis, Seizure, Scoliosis, Intention tremor |
OMIM:615108 |
Wrinkly Skin Syndrome |
|
Delayed eruption of teeth, Carious teeth, Cryptorchidism, Slurred speech, Progressive cerebellar ... |
ORPHA:2834 |
Chromosome Xq26.3 Duplication Syndrome |
|
Kyphosis, Seizure, Polyphagia |
OMIM:300942 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type |
|
Kyphoscoliosis, Kyphosis, Abnormal curvature of the vertebral column, Seizure, Platyspondyly, Sco... |
ORPHA:93360 |
Pruritic Urticarial Papules And Plaques Of Pregnancy |
|
Increased body weight |
ORPHA:64745 |
Osteoglophonic Dysplasia |
|
Respiratory distress, Mandibular prognathia, Delayed eruption of teeth, Hypospadias, Hypoplasia o... |
OMIM:166250 |
Toxic Epidermal Necrolysis |
|
Respiratory distress, Dysphagia, Weight loss, Restrictive ventilatory defect, Cough, Polydipsia |
ORPHA:537 |
Inflammatory Pseudotumor Of The Liver |
|
Diabetes mellitus, Weight loss |
ORPHA:90003 |
Genitopalatocardiac Syndrome |
|
Hypospadias, Micrognathia, Cryptorchidism, Male pseudohermaphroditism, Non-midline cleft lip, Cle... |
ORPHA:2075 |
Microphthalmia, Lenz Type |
|
Hyperlordosis, Cryptorchidism, Kyphosis, Seizure, Self-injurious behavior, Scoliosis |
ORPHA:568 |
Simple Cryoglobulinemia |
|
Progressive neurologic deterioration, Weight loss, Seizure, Paresthesia, Spontaneous pain sensation |
ORPHA:91139 |
Stickler Syndrome |
|
Abnormal dental enamel morphology, Cachexia, Micrognathia, Hypoplasia of the maxilla, Hemiplegia/... |
ORPHA:828 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Abnormal intervertebral disk morphology, Short neck, Cryptorchidism, Kyphosis, Abnormal form of t... |
ORPHA:2311 |
Q Fever |
|
Respiratory distress, Pneumonia, Anorexia, Weight loss, Cough, Pleural effusion |
ORPHA:781 |
Bone Marrow Failure Syndrome 5 |
|
Bilateral tonic-clonic seizure |
OMIM:618165 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Decreased serum iron, Pulmonary embolism, Dyspnea, Jaundice, Unconjugated hyperbilirubinemia, Inc... |
ORPHA:447 |
Osteootohepatoenteric Syndrome |
|
Asthma, Failure to thrive, Hearing impairment, Weight loss |
OMIM:619377 |
Attenuated Chédiak-Higashi Syndrome |
|
Skin ulcer |
ORPHA:352723 |
Xylt1-Cdg |
|
Growth delay, Truncal obesity, Short stature |
ORPHA:370930 |
Congenital Bilateral Absence Of Vas Deferens |
|
Male infertility, Obstructive azoospermia, Oligozoospermia |
ORPHA:48 |
Von Hippel-Lindau Disease |
|
Myocardial infarction, Myocarditis, Abnormal left ventricular function, Cardiomyopathy, Hypertens... |
ORPHA:892 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Exaggerated startle response, Elevated circulating creatine kinase concentration, Respiratory ins... |
OMIM:253800 |
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous |
|
Skin ulcer, Nail dystrophy, Recurrent loss of toenails and fingernails |
OMIM:245660 |
Hereditary Spherocytosis |
|
Ataxia, Pallor, Skin ulcer |
ORPHA:822 |
Glucose-Galactose Malabsorption |
|
Failure to thrive, Weight loss |
ORPHA:35710 |
Plague |
|
Respiratory distress, Anorexia, Unsteady gait, Slurred speech, Depression, Acute infectious pneum... |
ORPHA:707 |
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Hypospadias, Diastema, Agenesis of molar, Supernumerary tooth, Cry... |
OMIM:619718 |
Opitz Gbbb Syndrome |
|
Bifid scrotum, Micrognathia, High palate, Recurrent aspiration pneumonia, Enlarged ovaries, Hypos... |
ORPHA:2745 |
Nicolaides-Baraitser Syndrome |
|
Thin upper lip vermilion, Short lingual frenulum, Posteriorly rotated ears, Cryptorchidism, High,... |
OMIM:601358 |
Shwachman-Diamond Syndrome 1 |
|
Respiratory distress, Neonatal respiratory distress, Small for gestational age, Short stature, Fa... |
OMIM:260400 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Respiratory distress, Neonatal short-limb short stature, Rhizomelia |
OMIM:151210 |
Agnathia-Otocephaly Complex |
|
Respiratory distress, Tracheomalacia |
OMIM:202650 |
W Syndrome |
|
Bilateral tonic-clonic seizure |
ORPHA:2804 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Pyoderma gangrenosum |
OMIM:150550 |
Perlman Syndrome |
|
Everted upper lip vermilion, Tented upper lip vermilion, Micrognathia, Large for gestational age,... |
OMIM:267000 |
Transketolase Deficiency |
|
Proportionate short stature, Self-injurious behavior, Attention deficit hyperactivity disorder, C... |
ORPHA:488618 |
Cowden Syndrome 6 |
|
Kyphosis, Hydrocele testis, Seizure, Scoliosis, Intention tremor |
OMIM:615109 |
Mucopolysaccharidosis, Type Vii |
|
Anterior beaking of lower thoracic vertebrae, Thick eyebrow, Short neck, Hypoplasia of the odonto... |
OMIM:253220 |
Focal Dermal Hypoplasia |
|
Delayed eruption of teeth, Short stature, Cleft upper lip, Dental malocclusion, Cleft palate, Oli... |
OMIM:305600 |
Pgm3-Cdg |
|
Ataxia, Skin ulcer, Seizure, Myoclonus, Cortical myoclonus |
ORPHA:443811 |
Mend Syndrome |
|
Sacral dimple, Hyperactivity, Aggressive behavior, Cryptorchidism, Kyphosis, Seizure, Abnormal so... |
ORPHA:401973 |
Diffuse Cutaneous Systemic Sclerosis |
|
Skin ulcer, Dysphagia |
ORPHA:220393 |
Floating-Harbor Syndrome |
|
Speech apraxia, Broad-based gait, Small for gestational age, Hypospadias, Persistence of primary ... |
ORPHA:2044 |
Primrose Syndrome |
|
Sparse scalp hair, Restlessness, Ataxia, Absent facial hair, Aggressive behavior, Bilateral crypt... |
OMIM:259050 |
Brachyolmia Type 3 |
|
Kyphosis, Platyspondyly, Scoliosis, Short neck |
OMIM:113500 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Cryptorchidism, Sacrococcygeal pilonidal abnormality, Abnormal pyramidal sign, Seizure, Self-inju... |
ORPHA:468631 |
15Q14 Microdeletion Syndrome |
|
Kyphosis, Seizure, Scoliosis |
ORPHA:261190 |
Atypical Werner Syndrome |
|
Hypertriglyceridemia, Micrognathia, Thin vermilion border, Decreased body weight, Failure to thri... |
ORPHA:79474 |
Beta-Thalassemia Major |
|
High-output congestive heart failure, Arrhythmia, Dilated cardiomyopathy, Recurrent fever |
ORPHA:231214 |
Calciphylaxis |
|
Skin ulcer |
ORPHA:280062 |
Bardet-Biedl Syndrome 12 |
|
Obesity |
OMIM:615989 |
Autosomal Dominant Popliteal Pterygium Syndrome |
|
Bifid scrotum, Thin upper lip vermilion, Small scrotum, Lip pit, Micrognathia, Cryptorchidism, No... |
ORPHA:1300 |
Dyggve-Melchior-Clausen Disease |
|
Waddling gait, Lumbar hyperlordosis, Short neck, Hypoplasia of the odontoid process, Kyphosis, Pl... |
OMIM:223800 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Speech apraxia, Overfriendliness, Sacral dimple, Fair hair, Alopecia, Generalized-onset seizure, ... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Speech apraxia, Overfriendliness, Sacral dimple, Fair hair, Alopecia, Generalized-onset seizure, ... |
ORPHA:363958 |
Fanconi Anemia |
|
Hypospadias, Micrognathia, Abnormal preputium morphology, Cryptorchidism, Aplasia/Hypoplasia of t... |
ORPHA:84 |
Hermansky-Pudlak Syndrome |
|
Menometrorrhagia, Abnormal dental enamel morphology, Epistaxis, Dyspnea, Weight loss |
ORPHA:79430 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Calcinosis, Abnormality of the dentition, Micrognathia, Hyperlipidemia, Narrow mouth |
ORPHA:90154 |
Immunoglobulin A Vasculitis |
|
Anorexia, Erythema, Skin ulcer, Seizure, Purpura |
ORPHA:761 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Multifocal seizures, Hyperlordosis, Aggressive behavior, Synophrys, Seizure, Abnormal repetitive ... |
OMIM:301066 |
Juvenile Polyposis Of Infancy |
|
Cachexia |
ORPHA:79076 |
Ppoma |
|
Neoplasm of the pancreas, Elevated circulating growth hormone concentration, Abnormality of the t... |
ORPHA:97278 |
Ullrich Congenital Muscular Dystrophy 1 |
|
Kyphosis, Torticollis, Scoliosis, Spinal rigidity |
OMIM:254090 |
Glycogen Storage Disease Ib |
|
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Splenomegaly, Hyperlipidemia, O... |
OMIM:232220 |
Radio-Renal Syndrome |
|
Respiratory distress, Severe short stature, Dyspnea, Respiratory failure, Chylothorax, Pleural ef... |
ORPHA:3015 |
Distal Deletion 15Q |
|
Thin upper lip vermilion, Decreased serum insulin-like growth factor 1, Small for gestational age... |
ORPHA:1596 |
Malignant Atrophic Papulosis |
|
Pain insensitivity, Pleural effusion, Respiratory failure, Weight loss |
ORPHA:679 |
Catastrophic Antiphospholipid Syndrome |
|
Seizure, Skin ulcer |
ORPHA:464343 |
Say-Barber-Miller Syndrome |
|
Low-set, posteriorly rotated ears, Micrognathia, Carious teeth, Cryptorchidism, Babinski sign, Pr... |
ORPHA:3132 |
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Truncal obesity, Disproportionate short stature, Attention deficit hyperactivity disorder, Intrau... |
ORPHA:2637 |
Acquired Purpura Fulminans |
|
Pyoderma gangrenosum, Macular purpura |
ORPHA:49566 |
Ciliary Dyskinesia, Primary, 14 |
|
Male infertility, Reduced sperm motility, Immotile sperm |
OMIM:613807 |
1P36 Deletion Syndrome |
|
Abnormal eyebrow morphology, Cryptorchidism, Kyphosis, Hemiplegia/hemiparesis, Polyphagia, Spinal... |
ORPHA:1606 |
Cushing Disease |
|
Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c... |
ORPHA:96253 |
Nablus Mask-Like Facial Syndrome |
|
Thin upper lip vermilion, Small earlobe, Posteriorly rotated ears, Abnormality of the dentition, ... |
OMIM:608156 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Mandibular prognathia, Exaggerated median tongue furrow, Hepatomegaly, Neonatal respiratory distr... |
OMIM:312870 |
Bloom Syndrome |
|
Small for gestational age, Pneumonia, Chronic pulmonary obstruction, Growth delay, Severe postnat... |
ORPHA:125 |
Ciliary Dyskinesia, Primary, 18 |
|
Male infertility, Immotile sperm |
OMIM:614874 |
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Alopecia, Kyphosis, Vertebral segmentation defect, Scoliosis, Sparse hair |
ORPHA:1005 |
Wiskott-Aldrich Syndrome |
|
Fever, Recurrent intrapulmonary hemorrhage, Epistaxis, Sudden cardiac death, Hematemesis, Vasculi... |
ORPHA:906 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Respiratory distress, Absent eyebrow, Brittle hair, Absent nipple, Sparse eyelashes, Absent eyela... |
OMIM:305100 |
Laubry-Pezzi Syndrome |
|
Aortic regurgitation, Mildly reduced left ventricular ejection fraction, Congestive heart failure... |
ORPHA:99094 |
Marden-Walker Syndrome |
|
Short neck, Cryptorchidism, Kyphosis, Seizure, Scoliosis |
OMIM:248700 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Kyphosis, Thoracic scoliosis, Seizure |
OMIM:603387 |
Glucagonoma |
|
Neoplasm of the pancreas, Diabetes mellitus, Stomatitis, Elevated circulating growth hormone conc... |
ORPHA:97280 |
Hallermann-Streiff Syndrome |
|
Natal tooth, Micrognathia, Abnormality of the dentition, Cryptorchidism, Supernumerary tooth, Hig... |
ORPHA:2108 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Mandibular prognathia, Hypospadias, Anterior pituitary hypoplasia, Micrognathia, Abnormality of t... |
OMIM:151050 |
Weismann-Netter Syndrome |
|
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:3344 |
Diamond-Blackfan Anemia 21 |
|
Short stature, Obesity |
OMIM:620072 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
|
Thin upper lip vermilion, Small for gestational age, Hypospadias, Posteriorly rotated ears, Micro... |
OMIM:309590 |
Alström Syndrome |
|
Respiratory distress, Abnormality of dental color, Gingivitis, Hepatic fibrosis, Hepatic steatosi... |
ORPHA:64 |
Grfoma |
|
Neoplasm of the pancreas, Elevated circulating growth hormone concentration, Neoplasm of the thym... |
ORPHA:97261 |
Somatostatinoma |
|
Neoplasm of the pancreas, Diabetes mellitus, Elevated circulating growth hormone concentration, A... |
ORPHA:97283 |
Aggressive Systemic Mastocytosis |
|
Anorexia, Weight loss |
ORPHA:98850 |
3Mc Syndrome 2 |
|
Prominence of the premaxilla, Torticollis, Hypospadias, Cleft upper lip, Cryptorchidism, Cleft pa... |
OMIM:265050 |
Autosomal Dominant Robinow Syndrome |
|
Hypoplasia of penis, Micrognathia, Epispadias, Abnormality of the gingiva, High, narrow palate, D... |
ORPHA:3107 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Microretrognathia, Natal tooth, Hamartoma of tongue, Cryptorchidism, Cleft lip, Macrotia, Hypopla... |
OMIM:616300 |
Fraser Syndrome 1 |
|
Dental crowding, Cleft upper lip, Dental malocclusion, Cleft palate, Difficulty in tongue movements |
OMIM:219000 |
Cartilage-Hair Hypoplasia |
|
Heart block, Cardiomyopathy, Respiratory insufficiency |
ORPHA:175 |
Craniolenticulosutural Dysplasia |
|
Delayed eruption of teeth, Thin upper lip vermilion, Carious teeth, Cryptorchidism, Cleft palate,... |
OMIM:607812 |
Pontocerebellar Hypoplasia Type 7 |
|
Ambiguous genitalia, Involuntary movements, Fatigable weakness of skeletal muscles, Micrognathia,... |
ORPHA:284339 |
Chime Syndrome |
|
Erythema, Skin ulcer, Fine hair, Seizure, Sparse hair |
ORPHA:3474 |
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Bilateral cryptorchidism, Kyphosis, Synophrys, Abnormal form of the vertebral bodies, Irregular v... |
ORPHA:3042 |
Lymphedema-Distichiasis Syndrome |
|
Arrhythmia |
OMIM:153400 |
Postaxial Acrofacial Dysostosis |
|
Supernumerary nipple, Micrognathia, Conical tooth, Cryptorchidism, Cleft upper lip, Cupped ear, C... |
OMIM:263750 |
Bruck Syndrome |
|
Kyphosis, Platyspondyly, Scoliosis |
ORPHA:2771 |
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome |
|
Hypospadias, Cleft soft palate, Micrognathia, Cryptorchidism, Male pseudohermaphroditism, Hypoxem... |
ORPHA:2282 |
Stickler Syndrome, Type I |
|
Kyphosis, Platyspondyly, Morbus Scheuermann, Scoliosis, Beaking of vertebral bodies, Spondylolist... |
OMIM:108300 |
Rheumatoid Arthritis |
|
Weight loss |
OMIM:180300 |
Pfeiffer Syndrome Type 2 |
|
Respiratory distress, Seizure, Tracheomalacia |
ORPHA:93259 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Hemiparesis, Hyperlipidemia, Elevated circulating creatinine concentration, Increased blood urea ... |
OMIM:235400 |
Ménétrier Disease |
|
Anorexia, Weight loss |
ORPHA:2494 |
Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Respiratory distress, Aplasia/Hypoplasia of the eyebrow |
ORPHA:990 |
Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Weight loss |
ORPHA:86884 |
3M Syndrome |
|
Hyperlordosis, Short neck, Increased vertebral height, Kyphosis, Scoliosis, Thick eyebrow |
ORPHA:2616 |
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1 |
|
Small scrotum, Tented upper lip vermilion, Micrognathia, Widely-spaced maxillary central incisors... |
OMIM:309580 |
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked |
|
Male infertility, Azoospermia |
OMIM:300985 |
Vas Deferens, Congenital Bilateral Aplasia Of |
|
Male infertility, Azoospermia |
OMIM:277180 |
Osteogenesis Imperfecta, Type X |
|
Respiratory distress, Rhizomelia, Short stature, Recurrent pneumonia, Chronic lung disease |
OMIM:613848 |
Mucopolysaccharidosis Type 2 |
|
Short attention span, Hyperactivity, Impulsivity, Aggressive behavior, Progressive neurologic det... |
ORPHA:580 |
46,Xx Ovotesticular Difference Of Sex Development |
|
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... |
ORPHA:2138 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Respiratory distress, Failure to thrive in infancy |
OMIM:612852 |
Pfeiffer Syndrome Type 3 |
|
Respiratory distress, Seizure, Tracheomalacia |
ORPHA:93260 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Respiratory distress, Neonatal respiratory distress, Tracheomalacia |
OMIM:217980 |
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Respiratory distress, Respiratory failure, Chylothorax, Dysphagia |
OMIM:620278 |
Achondroplasia |
|
Respiratory distress, Neonatal short-limb short stature, Rhizomelia, Upper airway obstruction |
OMIM:100800 |
Cowden Syndrome 1 |
|
Kyphosis, Hydrocele testis, Seizure, Scoliosis, Intention tremor |
OMIM:158350 |
Thanatophoric Dysplasia Type 1 |
|
Abnormal sacroiliac joint morphology, Platyspondyly, Seizure, Kyphosis |
ORPHA:1860 |
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive |
|
Spastic gait, Acral ulceration |
OMIM:256840 |
Coccidioidomycosis |
|
Respiratory distress, Pneumonia, Seizure, Pleural empyema, Cognitive impairment, Cough, Exudative... |
ORPHA:228123 |
Friedreich Ataxia 2 |
|
Abnormal EKG, Concentric hypertrophic cardiomyopathy, Congestive heart failure |
OMIM:601992 |
Trisomy 9P |
|
Kyphosis, Sacral dimple, Scoliosis, Short neck |
ORPHA:236 |
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Thyroid dysgenesis, Posteriorly rotated ears, Micrognathia, Thyroid agenesis, Cryptorchidism, Sub... |
ORPHA:3047 |
Fontaine Progeroid Syndrome |
|
Mandibular prognathia, Small scrotum, Micrognathia, High, narrow palate, Oligodontia, Microdontia... |
OMIM:612289 |
Classic Homocystinuria |
|
Sparse scalp hair, Anorexia, Kyphosis, Hemiplegia/hemiparesis, Seizure, Scoliosis |
ORPHA:394 |
Noonan Syndrome 14 |
|
Curly hair, Short neck, Sparse eyebrow, Cryptorchidism, Kyphosis, Low posterior hairline, Sparse ... |
OMIM:619745 |
Neuropathy, Hereditary Sensory And Autonomic, Type Ia |
|
Acral ulceration |
OMIM:162400 |
Tropical Pancreatitis |
|
Pancreatic adenocarcinoma, Maternal diabetes, Insulin-dependent but ketosis-resistant diabetes, W... |
ORPHA:103918 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Bifid scrotum, Fused labia majora, Decreased circulating cortisol level, Small scrotum, Conductiv... |
OMIM:201750 |
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Disproportionate short-limb short stature, Obesity |
OMIM:250420 |
Schinzel-Giedion Syndrome |
|
Respiratory distress, Epileptic spasm, Failure to thrive in infancy, Generalized hypertrichosis, ... |
ORPHA:798 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Thoracic scoliosis, Cervical hemivertebrae, Short neck, Fused cervical vertebrae, Thoracic kyphos... |
ORPHA:508498 |
Aneurysm-Osteoarthritis Syndrome |
|
Dental malocclusion, Cleft palate, High palate, Malar flattening, Retrognathia, Bifid uvula |
ORPHA:284984 |
Fraser Syndrome |
|
Dental crowding, Cleft upper lip, Dental malocclusion, Orofacial cleft, High palate, Bifid tongue |
ORPHA:2052 |
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Abnormality of the temporomandibular joint, Mild postnatal growth retardation, Weight loss |
ORPHA:85408 |
Glycogen Storage Disease Ia |
|
Elevated hepatic transaminase, Hepatomegaly, Hyperlipidemia, Xanthelasma, Hyperuricemia, Hepatoce... |
OMIM:232200 |
Homozygous Familial Hypercholesterolemia |
|
Dyspnea, Hyperlipidemia, Increased LDL cholesterol concentration, Hypercholesterolemia, Hepatic s... |
ORPHA:391665 |
Beta-Thalassemia Intermedia |
|
Pallor, Skin ulcer |
ORPHA:231222 |
Lateral Meningocele Syndrome |
|
Vertebral fusion, Short neck, Cryptorchidism, Kyphosis, Coarse hair, Scoliosis, Biconcave vertebr... |
OMIM:130720 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Postnatal growth retardation, Truncal obesity, Disproportionate short stature, Intrauterine growt... |
OMIM:210720 |
Larsen Syndrome |
|
Cryptorchidism, Cleft palate, Respiratory insufficiency, Conductive hearing impairment, Malar fla... |
ORPHA:503 |
Enamel-Renal Syndrome |
|
Increased circulating osteocalcin level, Delayed eruption of teeth, Abnormality of dental color, ... |
ORPHA:1031 |
8Q24.3 Microdeletion Syndrome |
|
Respiratory distress, Hyperactivity, Infancy onset short-trunk short stature, Small for gestation... |
ORPHA:508488 |
Glycogen Storage Disease Ic |
|
Hepatomegaly, Hepatoblastoma, Chronic pancreatitis, Hyperlipidemia, Xanthelasma, Hyperuricemia, H... |
OMIM:232240 |
Reactive Arthritis |
|
Respiratory insufficiency, Dystrophic fingernails, Cognitive impairment, Weight loss |
ORPHA:29207 |
Ctcf-Related Neurodevelopmental Disorder |
|
Low-set, posteriorly rotated ears, Thin upper lip vermilion, Small for gestational age, Phimosis,... |
ORPHA:363611 |
Kikuchi-Fujimoto Disease |
|
Ataxia, Oral ulcer, Weight loss, Enlargement of parotid gland, Pleural effusion |
ORPHA:50918 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Neonatal respiratory distress, Neonatal insulin-dependent diabetes mellitus, Micrognathia, Precoc... |
ORPHA:96191 |
Congenital Myopathy 13 |
|
Hypercapnia, Micrognathia, Cryptorchidism, Cleft palate, Hypoxemia, Restrictive ventilatory defec... |
OMIM:255995 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Smooth philtrum, Acute respiratory distress syndrome, Micrognathia, Cryptorchidism, Wheezing, Res... |
OMIM:620005 |
Breasts And/Or Nipples, Aplasia Or Hypoplasia Of, 2 |
|
Absent nipple, Cryptorchidism, Widely spaced teeth, Male urethral meatus stenosis, Hypoplastic ni... |
OMIM:616001 |
Familial Thrombocytosis |
|
Pulmonary arterial hypertension, Paresthesia, Weight loss |
ORPHA:71493 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Pulmonary embolism, Dyspnea, Hyperlipidemia, Hypoalbuminemia, Pleural effusion |
ORPHA:567546 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Histiocytoid cardiomyopathy, Arrhythmia, Junctional ectopic tachycardia |
OMIM:309801 |
Chromosome 1P36 Deletion Syndrome, Proximal |
|
Wolff-Parkinson-White syndrome, Dilated cardiomyopathy, Pulmonic stenosis |
OMIM:619343 |
2Q31.1 Microdeletion Syndrome |
|
Short neck, Abnormal hair morphology, Cryptorchidism, Kyphosis, Synophrys, Low anterior hairline,... |
ORPHA:251014 |
Familial Keratoacanthoma |
|
Skin ulcer |
ORPHA:493 |
Livedoid Vasculopathy |
|
Ecchymosis, Skin ulcer, Macular purpura |
ORPHA:542643 |
Stevens-Johnson Syndrome |
|
Dyspareunia, Dyspnea, Weight loss, Restrictive ventilatory defect, Cough |
ORPHA:36426 |
Matthew-Wood Syndrome |
|
Cryptorchidism, Aplasia/Hypoplasia of the pancreas, Abnormality of the uterus, Low-set ears, Annu... |
ORPHA:2470 |
Mend Syndrome |
|
Microretrognathia, Posteriorly rotated ears, Micrognathia, Cryptorchidism, Hypertonia, High palat... |
OMIM:300960 |
Cystinosis, Nephropathic |
|
Hypopigmentation of hair, Failure to thrive in infancy, Short stature, Progressive neurologic det... |
OMIM:219800 |
Sarcoidosis, Susceptibility To, 1 |
|
Dyspnea, Enlarged lacrimal glands, Bronchiectasis, Weight loss, Hypoxemia, Restrictive ventilator... |
OMIM:181000 |
Woodhouse-Sakati Syndrome |
|
Choreoathetosis, Hyperlipidemia, Dystonia, Anodontia |
ORPHA:3464 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Highly arched eyebrow, Supernumerary nipple, Cryptorchidism, Kyphosis, Scoliosis |
OMIM:619951 |
Hajdu-Cheney Syndrome |
|
Abnormal fingernail morphology, Synophrys, Low anterior hairline, Skin ulcer, Coarse hair, Dry sk... |
ORPHA:955 |
Tuberous Sclerosis 1 |
|
Wolff-Parkinson-White syndrome |
OMIM:191100 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Pyoderma gangrenosum |
ORPHA:486 |
Oculodentodigital Dysplasia |
|
Arrhythmia, Gait disturbance, Optic atrophy, Ataxia |
ORPHA:2710 |
Immunodeficiency 31C |
|
Diabetes mellitus, Cough, Bronchiectasis, Weight loss, Delayed puberty, Hypothyroidism |
OMIM:614162 |
Primary Intestinal Lymphangiectasia |
|
Pleural effusion, Weight loss |
ORPHA:90362 |
Hereditary Acrokeratotic Poikiloderma |
|
Erythema, Skin ulcer, Nail dystrophy, Dystrophic fingernails, Dystrophic toenail |
ORPHA:2907 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iia |
|
Paronychia, Acral ulceration |
OMIM:201300 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Respiratory distress, Severe short stature, Abnormal eyelash morphology, Dyspnea, Growth delay, S... |
ORPHA:2556 |
Tetragametic Chimerism |
|
Bifid scrotum, True hermaphroditism, Ovotestis, Cryptorchidism, Perineal hypospadias, Abnormality... |
ORPHA:199310 |
Androgen Insensitivity, Partial |
|
Bifid scrotum, Absent vas deferens, Cryptorchidism, Male pseudohermaphroditism, Perineal hypospad... |
OMIM:312300 |
Igg4-Related Retroperitoneal Fibrosis |
|
Varicocele, Weight loss, Hydrocele testis, Impotence, Retrograde ejaculation, Hashimoto thyroiditis |
ORPHA:49041 |
Refractory Celiac Disease |
|
Weight loss |
ORPHA:398063 |
Mucopolysaccharidosis, Type Ii |
|
Kyphosis, Seizure, Hypertrichosis, Short neck |
OMIM:309900 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress |
OMIM:231680 |
Klatskin Tumor |
|
Weight loss |
ORPHA:99978 |
Neutrophilic Dermatosis, Acute Febrile |
|
Erythema, Pyoderma gangrenosum |
OMIM:608068 |
Arterial Tortuosity Syndrome |
|
Respiratory distress, Dyspnea, Respiratory failure, Cardiorespiratory arrest |
ORPHA:3342 |
Hurler-Scheie Syndrome |
|
Kyphosis, Hirsutism, Scoliosis |
OMIM:607015 |
Robinow Syndrome, Autosomal Dominant 1 |
|
Short lingual frenulum, Dental crowding, Micrognathia, Orofacial cleft, Downturned corners of mou... |
OMIM:180700 |
Dyskeratosis Congenita, X-Linked |
|
Ataxia, Hypospadias, Phimosis, Carious teeth, Cryptorchidism, Restrictive ventilatory defect, Ora... |
OMIM:305000 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Hyperlipidemia, High palate, Abnormality of the dentition |
ORPHA:90153 |
3C Syndrome |
|
Kyphosis, Hemivertebrae, Scoliosis, Short neck |
ORPHA:7 |
Osteogenesis Imperfecta, Type Iii |
|
Kyphosis, Biconcave vertebral bodies, Scoliosis |
OMIM:259420 |
Pseudoleprechaunism Syndrome, Patterson Type |
|
Atonic seizure, Bilateral tonic-clonic seizure |
ORPHA:2976 |
Orofaciodigital Syndrome Iii |
|
Kyphosis, Myoclonus |
OMIM:258850 |
Nodular Non-Suppurative Panniculitis |
|
Weight loss |
ORPHA:33577 |
Diamond-Blackfan Anemia 10 |
|
Growth delay, Short stature, Respiratory distress |
OMIM:613309 |
Lysinuric Protein Intolerance |
|
Truncal obesity, Failure to thrive, Short stature, Respiratory insufficiency |
OMIM:222700 |
Infantile Systemic Hyalinosis |
|
Skin ulcer |
ORPHA:2176 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Low-set, posteriorly rotated ears, Hypoplasia of penis, Hypospadias, Hypoplasia of the premaxilla... |
ORPHA:2166 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Short stature, Asthma, Obesity, Aspiration pneumonia, Tracheomalacia, Pulmonary arterial hyperten... |
ORPHA:444077 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Bilateral tonic-clonic seizure, Highly arched eyebrow, Frontal balding, Short neck, Tremor, Synop... |
OMIM:612474 |
Microphthalmia With Limb Anomalies |
|
Low-set, posteriorly rotated ears, Macrodontia, Hypoplasia of the premaxilla, Micrognathia, Hypop... |
ORPHA:1106 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Ataxia, Agitation, Skin ulcer, Purpura |
OMIM:615688 |
Hellp Syndrome |
|
Elevated hepatic transaminase, Cerebral hemorrhage, Increased body weight, Hypotension, Pleural e... |
ORPHA:244242 |
Neurofibromatosis Type 1 |
|
Abnormal hair quantity, Ataxia, Cryptorchidism, Kyphosis, Seizure, Paresthesia, Scoliosis, Attent... |
ORPHA:636 |
Proteus Syndrome |
|
Disproportionate tall stature, Cachexia, Pulmonary embolism |
ORPHA:744 |
Pagod Syndrome |
|
Arrhythmia, Optic atrophy, Sudden cardiac death |
ORPHA:991 |
Cockayne Syndrome Type 3 |
|
Dry hair, Kyphosis, Unsteady gait, Premature graying of hair, Seizure, Scoliosis, Difficulty walk... |
ORPHA:90324 |
Systemic Sclerosis |
|
Alopecia, Nail bed telangiectasia, Digital ulcer, Acral ulceration, Dysphagia |
ORPHA:90291 |
Progressive Non-Infectious Anterior Vertebral Fusion |
|
Abnormal intervertebral disk morphology, Spinal rigidity, Kyphosis, Hemivertebrae, Abnormality of... |
ORPHA:2062 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Posteriorly rotated ears, Micrognathia, Rigidity, Dyspnea, Cryptorchidism, Submucous cleft hard p... |
ORPHA:2636 |
Norrie Disease |
|
Hypertonia, Failure to thrive, Clonus, Cachexia |
ORPHA:649 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Micropenis, Hypothyroidism, Hypospadias, Weight loss |
OMIM:613673 |
Rat-Bite Fever |
|
Diminished movement, Weight loss |
ORPHA:31205 |
Digeorge Syndrome |
|
Micrognathia, High, narrow palate, Parathyroid hypoplasia, Abnormal thymus morphology, Hypoplasia... |
OMIM:188400 |
Culler-Jones Syndrome |
|
Ectopic posterior pituitary, Anterior pituitary hypoplasia, Cleft upper lip, Cryptorchidism, Clef... |
OMIM:615849 |
Marfanoid Habitus With Situs Inversus |
|
Kyphosis, Scoliosis |
OMIM:609008 |
Castleman Disease |
|
Dyspnea, Weight loss, Cough |
ORPHA:160 |
Multiple Myeloma |
|
Pleural effusion, Paresthesia, Tall stature, Weight loss |
ORPHA:29073 |
Meige Disease |
|
Skin ulcer |
ORPHA:90186 |
White-Kernohan Syndrome |
|
Obesity, Attention deficit hyperactivity disorder |
OMIM:619426 |
Pallister-Hall Syndrome |
|
Small scrotum, Adrenal hypoplasia, Large for gestational age, Gonadotropin deficiency, Micropenis... |
ORPHA:672 |
Faundes-Banka Syndrome |
|
Thin upper lip vermilion, Premature thelarche, Micrognathia, Cryptorchidism, Cupped ear, Cleft pa... |
OMIM:619376 |
Familial Pancreatic Carcinoma |
|
Pancreatic adenocarcinoma, Diabetes mellitus, Ovarian carcinoma, Weight loss |
ORPHA:1333 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Short neck, Kyphosis, Hemivertebrae, Low anterior hairline, Scoliosis, Attention deficit hyperact... |
OMIM:618223 |
Cornelia De Lange Syndrome |
|
Hypoplasia of penis, Micrognathia, Downturned corners of mouth, Hypertonia, Widely spaced teeth, ... |
ORPHA:199 |
Ciliary Dyskinesia, Primary, 19 |
|
Male infertility |
OMIM:614935 |
22Q11.2 Deletion Syndrome |
|
Short stature, Asthma, Chronic pulmonary obstruction, Obesity, Attention deficit hyperactivity di... |
ORPHA:567 |
Hurler Syndrome |
|
Short neck, Hypoplasia of the odontoid process, Kyphosis, Biconcave vertebral bodies, C1-C2 sublu... |
OMIM:607014 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Hypoplasia of penis, External genital hypoplasia, Cryptorchidism, Submucous cleft hard palate, Cl... |
ORPHA:2250 |
Dysostosis, Stanescu Type |
|
Hyperlordosis, Kyphosis, Scoliosis, Short neck |
ORPHA:1798 |
Acro-Renal-Mandibular Syndrome |
|
Short neck, Kyphosis, Hemivertebrae, Scoliosis, Butterfly vertebrae |
ORPHA:958 |
Budd-Chiari Syndrome |
|
Weight loss |
ORPHA:131 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Male infertility |
ORPHA:2239 |
Tuberous Sclerosis 2 |
|
Wolff-Parkinson-White syndrome |
OMIM:613254 |
Monosomy 9Q22.3 |
|
Hyperactivity, Short neck, Kyphosis, Seizure, Abnormality of the vertebral column |
ORPHA:77301 |
Loeys-Dietz Syndrome 3 |
|
Pneumothorax, Dental malocclusion, Cleft palate, High palate, Malar flattening, Retrognathia, Bif... |
OMIM:613795 |
Beare-Stevenson Cutis Gyrata Syndrome |
|
Respiratory distress |
OMIM:123790 |
Chronic Granulomatous Disease |
|
Skin ulcer |
ORPHA:379 |
Chronic Graft Versus Host Disease |
|
Alopecia, Anorexia, Cough, Dyspnea, Wheezing, Pneumothorax, Bronchiectasis, Weight loss, Nail dys... |
ORPHA:99921 |
Popliteal Pterygium Syndrome |
|
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cleft upper lip, Cryptorchidism, Lower li... |
OMIM:119500 |
Coffin-Siris Syndrome 1 |
|
Sparse scalp hair, Sacral dimple, Dry hair, Aggressive behavior, Cryptorchidism, Kyphosis, Gait a... |
OMIM:135900 |
Lymphatic Malformation 7 |
|
Respiratory distress, Pleural effusion, Chylothorax |
OMIM:617300 |
Brucellosis |
|
Small for gestational age, Pneumonia, Anorexia, Chorea, Depression, Weight loss, Pleural effusion... |
ORPHA:1304 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Respiratory distress, Postnatal growth retardation, Coarse hair, Intrauterine growth retardation,... |
ORPHA:83617 |
Pyomyositis |
|
Testicular teratoma, Weight loss |
ORPHA:764 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Respiratory distress, Curly hair, Short stature, Seizure, Hypoplastic nipples, Difficulty walking... |
ORPHA:480880 |
Wolf-Hirschhorn Syndrome |
|
Vertebral fusion, Sacral dimple, Highly arched eyebrow, Cryptorchidism, Kyphosis, Abnormal form o... |
OMIM:194190 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Waddling gait, Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Highly arched eyebrow, Kyphosis,... |
OMIM:143095 |
Isolated Posterior Meningocele |
|
Hypokinesia, Difficulty walking |
ORPHA:268810 |
Familial Osteodysplasia, Anderson Type |
|
Kyphosis, Abnormal form of the vertebral bodies, Seizure, Scoliosis, Thick eyebrow |
ORPHA:2769 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Cryptorchidism, Kyphosis, Scoliosis |
ORPHA:2215 |
Microphthalmia, Syndromic 6 |
|
Failure to thrive, Small scrotum, Female hypogonadism, Posteriorly rotated ears, Adrenal hypoplas... |
OMIM:607932 |
Coffin-Siris Syndrome 12 |
|
Sparse scalp hair, Highly arched eyebrow, Cryptorchidism, Synophrys, Low anterior hairline, Seizu... |
OMIM:619325 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Pneumonia, Trichiasis, ... |
ORPHA:95455 |
Gaucher Disease Type 1 |
|
Kyphosis, Vertebral compression fracture, Anorexia |
ORPHA:77259 |
Cole-Carpenter Syndrome 2 |
|
Kyphosis, Platyspondyly |
OMIM:616294 |
Hyperparathyroidism, Transient Neonatal |
|
Respiratory distress |
OMIM:618188 |
Oculodentodigital Dysplasia |
|
Arrhythmia, Ataxia |
OMIM:164200 |
Fusariosis |
|
Paronychia, Skin ulcer |
ORPHA:228119 |
Lacrimoauriculodentodigital Syndrome |
|
Mixed hearing impairment, Abnormal pinna morphology, Abnormal dental enamel morphology, Micrognat... |
ORPHA:2363 |
Primary Sjögren Syndrome |
|
Skin ulcer, Depression, Seizure, Dry skin, Purpura |
ORPHA:289390 |
Holoprosencephaly 14 |
|
Aortic valve atresia, Double outlet right ventricle, Bilateral tonic-clonic seizure, Ventricular ... |
OMIM:619895 |
Spondyloperipheral Dysplasia |
|
Ovoid vertebral bodies, Short neck, Kyphosis, Irregular vertebral endplates, Platyspondyly |
OMIM:271700 |
Smith-Lemli-Opitz Syndrome |
|
Hypopigmentation of hair, Short neck, Abnormal eyelash morphology, Cryptorchidism, Kyphosis, Abno... |
ORPHA:818 |
Cole-Carpenter Syndrome |
|
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:2050 |
Mowat-Wilson Syndrome |
|
Mandibular prognathia, Bifid scrotum, Dental crowding, Uplifted earlobe, Cleft hard palate, Widel... |
ORPHA:2152 |
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities |
|
Cryptorchidism, Sensorineural hearing impairment, Rectoperineal fistula, Difficulty walking |
OMIM:618748 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 |
|
Kyphosis, Scoliosis, Hyperlordosis |
OMIM:617821 |
Mucopolysaccharidosis Type 6 |
|
Kyphosis, Ovoid vertebral bodies, Short neck |
ORPHA:583 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Mandibular prognathia, Bifid scrotum, Dental crowding, Uplifted earlobe, Cleft hard palate, Short... |
ORPHA:261537 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Growth delay, Weight loss |
ORPHA:309031 |
Osteoporosis-Pseudoglioma Syndrome |
|
Kyphoscoliosis, Kyphosis, Platyspondyly, Focal impaired awareness seizure, Scoliosis, Biconcave v... |
OMIM:259770 |
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:619607 |
Gallbladder Neuroendocrine Tumor |
|
Neuroendocrine neoplasm, Weight loss |
ORPHA:100086 |
Cdags Syndrome |
|
Sparse eyebrow, Kyphosis, Sparse eyelashes, Sparse scalp hair |
OMIM:603116 |
Degcags Syndrome |
|
Fever, Tachycardia, Pneumonia, Asthma, Rhinitis, Pulmonic stenosis, Tracheomalacia, Pulmonary art... |
OMIM:619488 |
Treacher Collins Syndrome 1 |
|
Cleft soft palate, Micrognathia, Cryptorchidism, Cleft palate, Wide mouth, Microtia, Abnormal par... |
OMIM:154500 |
Kasabach-Merritt Syndrome |
|
Respiratory distress, Hypopnea, Hypertrichosis |
ORPHA:2330 |
Cleidocranial Dysplasia 1 |
|
Respiratory distress, Moderately short stature, Short stature, Neonatal respiratory distress |
OMIM:119600 |
Beckwith-Wiedemann Syndrome |
|
Omphalocele, Inguinal hernia, Congenital diaphragmatic hernia, Large for gestational age, Obesity... |
ORPHA:116 |
Primary Sclerosing Cholangitis |
|
Thyroiditis, Weight loss, Neoplasm of the gallbladder, Type I diabetes mellitus, Cholelithiasis, ... |
ORPHA:171 |
Ulbright-Hodes Syndrome |
|
Respiratory distress, Abnormal penis morphology, Abnormal external genitalia, Enlarged labia mino... |
ORPHA:3404 |
Noonan Syndrome |
|
Arrhythmia |
ORPHA:648 |
Congenital Alveolar Capillary Dysplasia |
|
Respiratory distress, Pulmonary arterial hypertension |
ORPHA:210122 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Respiratory distress, Small for gestational age, Seizure, Intrauterine growth retardation, Failur... |
ORPHA:2255 |
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Intrauterine growth retardation, Failure to thrive, Short stature, Obesity |
OMIM:617157 |
Zttk Syndrome |
|
Curly hair, Sparse eyebrow, Kyphosis, Hemivertebrae, Seizure, Status epilepticus, Scoliosis, Spas... |
OMIM:617140 |
Caroli Disease |
|
Cholelithiasis, Weight loss |
ORPHA:53035 |
Pancreatoblastoma |
|
Weight loss |
ORPHA:677 |
Ramon Syndrome |
|
Kyphosis, Seizure, Scoliosis, Hypertrichosis |
OMIM:266270 |
Neuropathy, Hereditary Sensory And Autonomic, Type V |
|
Acral ulceration |
OMIM:608654 |
Cowden Syndrome |
|
Kyphosis, Seizure, Ataxia, Scoliosis |
ORPHA:201 |
Campomelic Dysplasia |
|
Poorly ossified cervical vertebrae, Kyphosis, Scoliosis, Short neck |
ORPHA:140 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Ovoid vertebral bodies, Thoracolumbar scoliosis, Hyperlordosis, Thoracic platyspondyly, Kyphosis,... |
OMIM:618019 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Short attention span, Upper airway obstruction, Heart murmur, Cardiomyopathy, Hypertension, Restr... |
ORPHA:217093 |
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies |
|
Kyphosis, Synophrys, Scoliosis |
OMIM:619557 |
Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Supernumerary nipple, Short neck, Cryptorchidism, Kyphosis, Hypertonia, Scoliosis, High anterior ... |
OMIM:619194 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Papilledema, Optic atrophy, Heart murmur, Cardiomyopathy, Hypertension, Arrhythmia |
ORPHA:217085 |
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Respiratory distress, Sparse scalp hair, Neonatal respiratory distress, Sparse eyelashes, Sparse ... |
OMIM:614748 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Enlarged lacrimal glands, Thyroiditis, Weight loss, Enlargement of parotid gland, Nodular goiter,... |
ORPHA:79078 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Myocarditis, Arrhythmia |
OMIM:250220 |
Hartsfield Syndrome |
|
Median cleft lip, Hypospadias, Posteriorly rotated ears, Cleft upper lip, Cryptorchidism, Gonadot... |
OMIM:615465 |
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features |
|
Sparse eyebrow, Kyphosis, Trichiasis, Thin eyebrow |
OMIM:609944 |
Pallister-Killian Syndrome |
|
Small scrotum, Tented upper lip vermilion, Micrognathia, Hypertonia, Apneic episodes in infancy, ... |
OMIM:601803 |
Autosomal Recessive Robinow Syndrome |
|
Sacral dimple, Alopecia, Short neck, Cryptorchidism, Kyphosis, Vertebral segmentation defect, Lon... |
ORPHA:1507 |
Leukocyte Adhesion Deficiency, Type I |
|
Skin ulcer |
OMIM:116920 |
Pseudoxanthoma Elasticum, Forme Fruste |
|
Kyphosis, Scoliosis |
OMIM:177850 |
Doors Syndrome |
|
Respiratory distress, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Myoclonus... |
ORPHA:79500 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Exaggerated startle response, Cryptorchidism, Hydrocele testis, Seizure, Scoliosis, Dysphagia, At... |
OMIM:619522 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Mandibular prognathia, Bifid scrotum, Dental crowding, Uplifted earlobe, Cleft hard palate, Short... |
ORPHA:261552 |
Osteogenesis Imperfecta, Type Iv |
|
Kyphosis, Biconcave flattened vertebrae, Scoliosis |
OMIM:166220 |
Malt Lymphoma |
|
Abnormality of the thyroid gland, Weight loss |
ORPHA:52417 |
Witteveen-Kolk Syndrome |
|
Hyperactivity, Small for gestational age, Short stature, Aggressive behavior, Obesity, Growth del... |
OMIM:613406 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Aggressive behavior, Obesity, Growth delay, Dysphagia, Polyphagia, Self-mutilation, Oppositional ... |
OMIM:607872 |
Mosaic Trisomy 20 |
|
Vertebral fusion, Cryptorchidism, Kyphosis, Spinal canal stenosis, Fused cervical vertebrae, Vert... |
ORPHA:1724 |
Orofaciodigital Syndrome Xiv |
|
Microretrognathia, Natal tooth, Posteriorly rotated ears, Hamartoma of tongue, Micrognathia, Epis... |
OMIM:615948 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Exaggerated startle response, Hypertonia, Spasticity |
OMIM:618367 |
Postinfectious Vasculitis |
|
Orchitis, Pneumonia, Weight loss |
ORPHA:48435 |
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Waddling gait, Respiratory distress, Short stature, Recurrent pneumonia, Growth delay, Intrauteri... |
ORPHA:99646 |
Igg4-Related Kidney Disease |
|
Prostatitis, Abnormality of the anterior pituitary, Thyroiditis, Weight loss, Interstitial pneumo... |
ORPHA:449395 |
Specc1L-Related Hypertelorism Syndrome |
|
Arrhythmia |
ORPHA:1519 |
Cardiac-Urogenital Syndrome |
|
Tracheomalacia, Tachycardia |
OMIM:618280 |
Sweet Syndrome |
|
Skin vesicle, Pyoderma gangrenosum |
ORPHA:3243 |
Parkes Weber Syndrome |
|
Scaling skin, Skin ulcer |
ORPHA:90307 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Anoperineal fistula, Oral ulcer, Weight loss |
OMIM:301074 |
Congenital Tracheal Stenosis |
|
Respiratory distress, Neonatal asphyxia, Wheezing, Dyspnea, Upper airway obstruction |
ORPHA:141127 |
Occipital Horn Syndrome |
|
Kyphosis, Seizure, Platyspondyly, Coarse hair, Pili torti |
OMIM:304150 |
Malakoplakia |
|
Skin ulcer |
ORPHA:556 |
Acromegaly |
|
Cerebral palsy, Kyphosis, Synophrys, Spinal canal stenosis, Depression, Paresthesia, Generalized ... |
ORPHA:963 |
Somatomammotropinoma |
|
Cerebral palsy, Kyphosis, Synophrys, Spinal canal stenosis, Depression, Paresthesia, Generalized ... |
ORPHA:314769 |
Sotos Syndrome |
|
Atrial septal defect, Bilateral tonic-clonic seizure, Ventricular septal defect, Generalized non-... |
ORPHA:821 |
Multiple Endocrine Neoplasia, Type Iib |
|
Kyphosis, Thick eyebrow, Scoliosis, Hyperlordosis |
OMIM:162300 |
Aspartylglucosaminuria |
|
Kyphosis, Spasticity, Seizure, Platyspondyly, Spondylolysis, Scoliosis, Macroorchidism, Beaking o... |
OMIM:208400 |
Osteogenesis Imperfecta, Type Viii |
|
Kyphosis, Vertebral compression fracture, Platyspondyly, Scoliosis |
OMIM:610915 |
Alkaptonuria |
|
Vertebral fusion, Kyphosis, Low back pain, Intervertebral disc degeneration |
OMIM:203500 |
Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Kyphosis |
OMIM:616914 |
Costello Syndrome |
|
Pneumothorax, Respiratory insufficiency, Respiratory failure, Arrhythmia, Pulmonic stenosis, Trac... |
OMIM:218040 |
Aprosencephaly And Cerebellar Dysgenesis |
|
Poorly formed metencephalon, Cerebellar dysplasia |
OMIM:601374 |
Ulnar-Mammary Syndrome |
|
Inguinal hernia, Elbow flexion contracture, Obesity |
OMIM:181450 |
Immunodeficiency 82 With Systemic Inflammation |
|
Pneumonia, Bronchiectasis, Oral ulcer, Weight loss, Anoperineal fistula, Cholesteatoma |
OMIM:619381 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Intrauterine growth retardation, Abdominal obesity, Short stature |
OMIM:619321 |
Marden-Walker Syndrome |
|
Kyphosis, Attention deficit hyperactivity disorder, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:2461 |
Generalized Arterial Calcification Of Infancy |
|
Respiratory distress, Failure to thrive in infancy, Seizure, Irritability, Pulmonary arterial hyp... |
ORPHA:51608 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Absent eyebrow, Alopecia, Abnormal eyelash morphology, Cryptorchidism, Kyphosis, Abnormal hair mo... |
ORPHA:2273 |
Johanson-Blizzard Syndrome |
|
Diabetes mellitus, Small for gestational age, Hypospadias, Septate vagina, Urethrovaginal fistula... |
OMIM:243800 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Kyphosis |
OMIM:239000 |
Benign Schwannoma |
|
Allodynia |
ORPHA:252164 |
Cardiofacioneurodevelopmental Syndrome |
|
Cryptorchidism, Kyphosis |
OMIM:619123 |
Poland Syndrome |
|
Short neck, Cryptorchidism, Kyphosis, Hemivertebrae, Low posterior hairline, Vertebral segmentati... |
ORPHA:2911 |
Smith-Lemli-Opitz Syndrome |
|
Hypertension, Hypertrophic cardiomyopathy, Aganglionic megacolon, Ventricular fibrillation |
OMIM:270400 |
Blau Syndrome |
|
Skin ulcer |
OMIM:186580 |
Isolated Arrhinia |
|
Respiratory distress |
ORPHA:1134 |
Primary Fanconi Renotubular Syndrome |
|
Growth delay, Weight loss |
ORPHA:3337 |
Blau Syndrome |
|
Erythema, Dry skin, Skin ulcer |
ORPHA:90340 |
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Absent eyelashes, Kyphosis, Absent eyebrow |
ORPHA:85199 |
Adenocarcinoma Of The Anal Canal |
|
Skin ulcer |
ORPHA:424016 |
17Q11 Microdeletion Syndrome |
|
Abnormal central motor function, Kyphosis, Focal-onset seizure, Seizure, Abnormality of the verte... |
ORPHA:97685 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Respiratory distress, Short stature |
OMIM:617088 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Waddling gait, Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Anterior wedgi... |
OMIM:300106 |
Pmm2-Cdg |
|
Respiratory distress, Abnormality of coordination, Ataxia, Seizure, Aspiration pneumonia, Failure... |
ORPHA:79318 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Cryptorchidism, Kyphosis, Scoliosis |
ORPHA:2658 |
Branchiooculofacial Syndrome |
|
Supernumerary nipple, Hyperlordosis, Short neck, Cryptorchidism, Kyphosis, Low posterior hairline... |
OMIM:113620 |
Shprintzen Omphalocele Syndrome |
|
Kyphosis, Lumbar hyperlordosis, Scoliosis |
OMIM:182210 |
Split Cord Malformation |
|
Tufted hairs, Penetrating foot ulcers, Hypertrichosis |
ORPHA:573278 |
Kabuki Syndrome 1 |
|
Ventricular septal defect, Bilateral tonic-clonic seizure with focal onset, Seizure, Focal impair... |
OMIM:147920 |
Wrinkly Skin Syndrome |
|
Short nail, Cryptorchidism, Kyphosis, Scoliosis, Sparse hair |
OMIM:278250 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Anorexia, Weight loss |
ORPHA:91500 |
Leukocyte Adhesion Deficiency |
|
Seizure, Pyoderma gangrenosum, Nail dystrophy |
ORPHA:2968 |
Cerebrocostomandibular Syndrome |
|
Kyphosis |
ORPHA:1393 |
Viss Syndrome |
|
Sparse scalp hair, Alopecia, Kyphosis, Scoliosis, Dysphagia, Butterfly vertebrae, Hirsutism |
OMIM:619472 |
Yunis-Varon Syndrome |
|
Sparse scalp hair, Absent nipple, Sparse eyelashes, Anterior concavity of thoracic vertebrae, Spa... |
OMIM:216340 |
Systemic Lupus Erythematosus |
|
Alopecia, Chorea, Depression |
ORPHA:536 |