Long Qt Syndrome 11 |
|
Syncope, Prolonged QTc interval |
OMIM:611820 |
Brugada Syndrome 9 |
|
Prolonged QT interval, ST segment elevation, Palpitations, Presyncope |
OMIM:616399 |
Jervell And Lange-Nielsen Syndrome 1 |
|
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval |
OMIM:220400 |
Long Qt Syndrome 10 |
|
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, T-wave alternans, Atrioventricu... |
OMIM:611819 |
Atrial Fibrillation, Familial, 9 |
|
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Syncope, Palpitations, Prolonged Q... |
OMIM:613980 |
Long Qt Syndrome 1 |
|
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval,... |
OMIM:192500 |
Long Qt Syndrome 2 |
|
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... |
OMIM:613688 |
Long Qt Syndrome 6 |
|
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... |
OMIM:613693 |
Long Qt Syndrome 14 |
|
Prolonged QT interval, 2:1 atrioventricular block, Cardiac arrest, T-wave alternans, Prolonged QT... |
OMIM:616247 |
Atrial Fibrillation, Familial, 3 |
|
Paroxysmal atrial fibrillation, Atrial fibrillation, Sudden cardiac death, Permanent atrial fibri... |
OMIM:607554 |
Long Qt Syndrome 12 |
|
Syncope, Prolonged QTc interval, Ventricular fibrillation, Torsade de pointes |
OMIM:612955 |
Chorea, Childhood-Onset, With Psychomotor Retardation |
|
Abnormal head movements, Chorea, Involuntary movements |
OMIM:616939 |
Cardiac Arrhythmia, Ankyrin-B-Related |
|
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope |
OMIM:600919 |
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Inappropriate behavior, Myoclonus, Dystonia, Uppe... |
ORPHA:401901 |
Long Qt Syndrome 9 |
|
Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a... |
OMIM:611818 |
Long Qt Syndrome 13 |
|
Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri... |
OMIM:613485 |
Sick Sinus Syndrome 1 |
|
Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br... |
OMIM:608567 |
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 |
Dystonia 3, Torsion, X-Linked |
|
Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic... |
OMIM:314250 |
Primary Dystonia, Dyt13 Type |
|
Torticollis, Generalized dystonia, Postural tremor, Involuntary movements, Dystonia, Torsion dyst... |
ORPHA:98807 |
Jervell And Lange-Nielsen Syndrome 2 |
|
Prolonged QT interval, Sudden cardiac death, Premature ventricular contraction, Syncope, Torsade ... |
OMIM:612347 |
Episodic Kinesigenic Dyskinesia 2 |
|
Chorea, Dystonia, Involuntary movements, Paroxysmal dyskinesia |
OMIM:611031 |
Paroxysmal Exertion-Induced Dyskinesia |
|
Lower limb spasticity, Ataxia, Involuntary movements, Aggressive behavior, Chorea, Torsion dyston... |
ORPHA:98811 |
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness |
|
Prolonged QT interval, Shock, Cardiac arrest, Polymorphic ventricular tachycardia, Premature vent... |
OMIM:615441 |
Progressive Familial Heart Block, Type Ib |
|
Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... |
OMIM:604559 |
Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Hyperactivity, Aggressive behavior, Hypotonia, Generalized hypotonia, Bruxism, Spasticity |
OMIM:615493 |
Long Qt Syndrome 5 |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven... |
OMIM:613695 |
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Torticollis, Axial hypotonia, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia |
OMIM:618425 |
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities |
|
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:617787 |
Intellectual Developmental Disorder, Autosomal Recessive 58 |
|
Axial hypotonia, Aggressive behavior, Pica, Spastic diplegia, Choreoathetosis, Self-injurious beh... |
OMIM:617270 |
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Restlessness, Dystonia, Ataxia, Clonus, Oculogyric crisis, Rigidity, Chorea, Hypotonia, Dysphagia... |
ORPHA:13 |
Dystonia 11, Myoclonic |
|
Torticollis, Writer's cramp, Tremor, Hypotonia, Myoclonus, Compulsive behaviors |
OMIM:159900 |
Paroxysmal Non-Kinesigenic Dyskinesia |
|
Torticollis, Involuntary movements, Rigidity, Chorea, Choreoathetosis, Hyperkinetic movements, Dy... |
ORPHA:98810 |
Episodic Ataxia, Type 1 |
|
Incoordination, Tremor, Vertigo, Babinski sign, Slurred speech, Episodic ataxia, Spastic gait |
OMIM:160120 |
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures |
|
Dystonia, Ataxia, Axial hypotonia, Aggressive behavior, Chorea, Poor coordination, Inappropriate ... |
OMIM:619150 |
Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Axial hypotonia, Tremor, Chorea, Hyperkinetic movements, Hemiballismus, Frequent falls |
OMIM:616921 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric... |
OMIM:614021 |
Parasomnia, Sleep Bruxism Type |
|
Myoclonus, Bruxism |
OMIM:606840 |
Primary Orthostatic Tremor |
|
Tremor, Abnormality of extrapyramidal motor function |
ORPHA:238606 |
Long Qt Syndrome 16 |
|
Second degree atrioventricular block, Prolonged QTc interval, T-wave alternans, Bradycardia |
OMIM:618782 |
Atrial Fibrillation, Familial, 11 |
|
Reduced left ventricular ejection fraction, Prolonged P wave, Atrial fibrillation, Prolonged QRS ... |
OMIM:614049 |
Optic Atrophy 2 |
|
Tremor, Dysdiadochokinesis, Babinski sign |
OMIM:311050 |
Parkinson Disease 24, Autosomal Dominant, Susceptibility To |
|
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication |
OMIM:619491 |
Dentatorubral-Pallidoluysian Atrophy |
|
Ataxia, Parkinsonism, Chorea, Choreoathetosis, Myoclonus, Dystonia |
OMIM:125370 |
Short Qt Syndrome 3 |
|
Shortened QT interval, Tachycardia, Palpitations |
OMIM:609622 |
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 |
Brugada Syndrome 3 |
|
Atrial fibrillation, J wave, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular ar... |
OMIM:611875 |
Striatonigral Degeneration, Infantile, Mitochondrial |
|
Incoordination, Poor motor coordination, Clonus, Chorea, Babinski sign, Hypotonia, Paroxysmal cho... |
OMIM:500003 |
Atrial Fibrillation, Familial, 7 |
|
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad... |
OMIM:612240 |
Brugada Syndrome 4 |
|
Shortened QT interval, Syncope, Atrial fibrillation |
OMIM:611876 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3 |
|
Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait |
OMIM:613227 |
Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Limb dystonia, Violent behavior, Parkinsonism, Impulsivity, Tremor, Rigidity, Chorea, Abnormal py... |
ORPHA:216873 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Aggressive behavior, Hypotonia, Bruxism, Spasticity |
ORPHA:356996 |
Short Qt Syndrome 1 |
|
Paroxysmal atrial fibrillation, Cardiac arrest, Sudden cardiac death, Shortened QT interval, Sync... |
OMIM:609620 |
Guanidinoacetate Methyltransferase Deficiency |
|
Abnormal head movements, Hyperactivity, Ataxia, Aggressive behavior, Chorea, Hypotonia, Athetosis... |
ORPHA:382 |
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures |
|
Involuntary movements, Aggressive behavior, Hypotonia, Agitation, Abnormal repetitive mannerisms |
OMIM:617171 |
Long Qt Syndrome 8 |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolonged QTc int... |
OMIM:618447 |
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements |
|
Axial hypotonia, Chorea, Self-injurious behavior, Dystonia, Stereotypical hand wringing |
OMIM:618760 |
Short Qt Syndrome 7 |
|
Cardiac arrest, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular fibrillation |
OMIM:620231 |
Parkinsonism-Dystonia 1, Infantile-Onset |
|
Dystonia, Axial hypotonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal py... |
OMIM:613135 |
Nathalie Syndrome |
|
Abnormal EKG, Hearing impairment |
OMIM:255990 |
Deafness, Autosomal Dominant 87 |
|
Enlarged vestibular aqueduct, Hearing impairment, Incomplete partition of the cochlea type II |
OMIM:620281 |
Sinoatrial Node Dysfunction And Deafness |
|
Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia |
OMIM:614896 |
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Axial hypotonia, Tremor, Chorea, Hemiballismus, Frequent falls |
ORPHA:494526 |
Sick Sinus Syndrome 4 |
|
Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation... |
OMIM:619464 |
Charcot-Marie-Tooth Disease, X-Linked Dominant, 6 |
|
Impaired pain sensation, Sensorineural hearing impairment, Impaired distal vibration sensation, H... |
OMIM:300905 |
Huntington Disease-Like 1 |
|
Restlessness, Incoordination, Aggressive behavior, Rigidity, Chorea, Dysmetria |
OMIM:603218 |
Chorea, Benign Hereditary |
|
Chorea, Frequent falls |
OMIM:118700 |
Paroxysmal Kinesigenic Dyskinesia |
|
Writer's cramp, Involuntary movements, Chorea, Athetosis, Dystonia |
ORPHA:98809 |
Spinocerebellar Ataxia Type 31 |
|
Impaired vibratory sensation, Tremor, Gait ataxia, Spasticity, Hearing impairment |
ORPHA:217012 |
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... |
OMIM:616117 |
Striatal Degeneration, Autosomal Dominant 2 |
|
Chorea, Parkinsonism |
OMIM:616922 |
Autism |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:209850 |
Autism, Susceptibility To, 8 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:607373 |
Autosomal Recessive Spastic Paraplegia Type 71 |
|
Lower limb spasticity, Babinski sign, Hand tremor, Spastic gait, Progressive spastic paraplegia |
ORPHA:401840 |
Acetyl-Coa Acetyltransferase-2 Deficiency |
|
Chorea, Hypotonia, Generalized hypotonia |
OMIM:614055 |
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis |
|
Tremor, Spastic paraplegia |
OMIM:309560 |
Spinocerebellar Ataxia 37 |
|
Ataxia, Tremor, Unsteady gait, Dysphagia, Frequent falls |
OMIM:615945 |
Chorea, Benign Familial |
|
Chorea |
OMIM:215450 |
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type) |
|
Dystonia, Axial hypotonia, Rigidity, Paraparesis, Chorea, Babinski sign, Abnormal pyramidal sign,... |
OMIM:607483 |
Short Qt Syndrome 2 |
|
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul... |
OMIM:609621 |
Paroxysmal Nonkinesigenic Dyskinesia 1 |
|
Paroxysmal dystonia, Torticollis, Paroxysmal choreoathetosis, Dysphagia |
OMIM:118800 |
Myoclonus-Dystonia Syndrome |
|
Torticollis, Writer's cramp, Myoclonus, Compulsive behaviors, Dystonia, Spinal myoclonus, Limb my... |
ORPHA:36899 |
Long Qt Syndrome 3 |
|
Ventricular flutter, Sudden cardiac death, Ventricular tachycardia, Syncope, Torsade de pointes, ... |
OMIM:603830 |
Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus |
|
Dystonia, Generalized dystonia, Parkinsonism, Spastic tetraparesis, Axial hypotonia, Opisthotonus... |
OMIM:619653 |
Restless Legs Syndrome, Susceptibility To, 1 |
|
Restless legs, Paresthesia, Myoclonus |
OMIM:102300 |
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Resting tremor, Ataxia, Parkinsonism, Chorea, Cogwheel rigidity, Bradykinesia, Myoclonus, Attenti... |
OMIM:619725 |
Childhood-Onset Benign Chorea With Striatal Involvement |
|
Chorea, Parkinsonism with favorable response to dopaminergic medication |
ORPHA:494541 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 |
|
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... |
OMIM:602086 |
Episodic Ataxia With Slurred Speech |
|
Tremor, Slurred speech, Gait ataxia |
ORPHA:401953 |
Amyotrophic Lateral Sclerosis 2, Juvenile |
|
Lower limb spasticity, Generalized dystonia, Ataxia, Clonus, Spastic tetraparesis, Dystonia, Head... |
OMIM:205100 |
Smith-Magenis syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation |
DECIPHER:8 |
Familial Short Qt Syndrome |
|
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... |
ORPHA:51083 |
Long Qt Syndrome 15 |
|
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... |
OMIM:616249 |
Primary Dystonia, Dyt27 Type |
|
Axial dystonia, Writer's cramp, Upper limb postural tremor, Focal dystonia, Limb dystonia, Oroman... |
ORPHA:464440 |
Episodic Kinesigenic Dyskinesia 3 |
|
Choreoathetosis, Torticollis, Involuntary movements, Dystonia |
OMIM:620245 |
Tremor, Hereditary Essential, 5 |
|
Kinetic tremor, Tongue tremor, Postural tremor, Intention tremor |
OMIM:616736 |
Deafness, Autosomal Dominant 85 |
|
Sensorineural hearing impairment, Cochlear nerve hypoplasia |
OMIM:620227 |
Tremor, Hereditary Essential, 6 |
|
Postural tremor, Kinetic tremor, Head tremor, Vocal tremor |
OMIM:618866 |
Dystonia 27 |
|
Torticollis, Postural tremor, Writer's cramp, Limb dystonia, Oromandibular dystonia, Laryngeal dy... |
OMIM:616411 |
Spinocerebellar Ataxia Type 15/16 |
|
Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anatomical site, Action t... |
ORPHA:98769 |
Deafness, Autosomal Recessive 104 |
|
Abnormal vestibular function, Positive Romberg sign, Prelingual sensorineural hearing impairment,... |
OMIM:616515 |
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Obesity, Limb dystonia, Hypertrophic cardiomy... |
OMIM:620270 |
Chorea, Remitting, With Nystagmus And Cataract |
|
Chorea |
OMIM:601372 |
Spinocerebellar Ataxia 20 |
|
Postural tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal tremor, Action tremor |
OMIM:608687 |
Myoclonus, Familial, 1 |
|
Ataxia, Myoclonus, Action myoclonus, Frequent falls, Action tremor |
OMIM:614937 |
Sandhoff Disease, Adult Form |
|
Dystonia, Tremor, Gait ataxia, Focal dystonia, Fasciculations, Dysphagia, Spasticity |
ORPHA:309169 |
Autosomal Dominant Spastic Ataxia Type 1 |
|
Spastic ataxia, Lower limb spasticity, Dystonia, Tremor, Babinski sign, Impaired vibration sensat... |
ORPHA:251282 |
Dyskinesia With Orofacial Involvement, Autosomal Dominant |
|
Resting tremor, Axial hypotonia, Involuntary movements, Chorea, Paroxysmal dyskinesia, Hypotonia,... |
OMIM:606703 |
Developmental And Epileptic Encephalopathy 37 |
|
Rigidity, Chorea, Hypotonia, Cogwheel rigidity, Choreoathetosis, Hyperkinetic movements, Myoclonu... |
OMIM:616981 |
Parkinsonism-Dystonia 3, Childhood-Onset |
|
Dystonia, Ataxia, Parkinsonism, Aggressive behavior, Tremor, Chorea, Hypertonia, Hyperkinetic mov... |
OMIM:619738 |
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive |
|
Dystonia, Ataxia, Parkinsonism, Hypoesthesia, Chorea, Abnormal pyramidal sign, Slurred speech, Dy... |
OMIM:618317 |
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct |
|
Goiter, Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of t... |
OMIM:600791 |
Spinocerebellar Ataxia 43 |
|
Ataxia, Tremor, Rigidity, Limb ataxia, Distal sensory impairment, Gait ataxia |
OMIM:617018 |
Spinocerebellar Ataxia 7 |
|
Tremor, Chorea, Babinski sign, Dysmetria, Progressive cerebellar ataxia, Abnormality of extrapyra... |
OMIM:164500 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4 |
|
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... |
OMIM:602087 |
Pontocerebellar Hypoplasia, Type 2C |
|
Chorea, Dystonia |
OMIM:612390 |
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant |
|
Dystonia, Severe muscular hypotonia, Oculogyric crisis, Chorea, Hypotonia, Self-injurious behavio... |
OMIM:614254 |
Tremor, Hereditary Essential, 1 |
|
Postural tremor, Hand tremor, Action tremor |
OMIM:190300 |
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Tremor, Ataxia, Hypotonia |
OMIM:213000 |
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia |
|
Axial hypotonia, Tremor, Agitation, Myoclonus, Compulsive behaviors, Dystonia |
OMIM:619651 |
Familial Dyskinesia And Facial Myokymia |
|
Resting tremor, Axial hypotonia, Chorea, Myoclonus, Dystonia, Limb hypertonia |
ORPHA:324588 |
3-Methylglutaconic Aciduria, Type Iii |
|
Ataxia, Chorea, Babinski sign, Abnormality of extrapyramidal motor function, Spasticity |
OMIM:258501 |
Spinocerebellar Ataxia 48 |
|
Dystonia, Ataxia, Parkinsonism, Tremor, Chorea, Babinski sign, Dysmetria, Gait ataxia, Dysphagia |
OMIM:618093 |
Segawa Syndrome, Autosomal Recessive |
|
Axial hypotonia, Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor... |
OMIM:605407 |
Neurodegeneration With Brain Iron Accumulation 3 |
|
Dystonia, Ataxia, Parkinsonism, Writer's cramp, Tremor, Rigidity, Chorea, Babinski sign, Choreoat... |
OMIM:606159 |
Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Ataxia, Tremor, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Gait distu... |
OMIM:614561 |
Cardiomyopathy, Dilated, 1D |
|
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... |
OMIM:601494 |
Spinocerebellar Ataxia 17 |
|
Dystonia, Ataxia, Parkinsonism, Aggressive behavior, Rigidity, Chorea, Dysmetria, Gait ataxia, Li... |
OMIM:607136 |
Chromosome 15Q11-Q13 Duplication Syndrome |
|
Restrictive behavior, Unsteady gait, Truncal ataxia, Abnormal repetitive mannerisms, Inflexible a... |
OMIM:608636 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri... |
OMIM:610193 |
Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity, Abnormal repetitive mannerisms |
OMIM:300271 |
Cataract, Congenital, With Mental Impairment And Dentate Gyrus Atrophy |
|
Chorea, Dysphagia |
OMIM:607674 |
Intellectual Developmental Disorder, Autosomal Recessive 48 |
|
Waddling gait, Aggressive behavior, Tremor, Inability to walk, Inappropriate laughter, Macrotia, ... |
OMIM:616269 |
Sydenham Chorea |
|
Chorea, Inappropriate behavior, Hemiballismus, Generalized hypotonia, Compulsive behaviors |
ORPHA:306731 |
Juvenile Amyotrophic Lateral Sclerosis |
|
Axial dystonia, Lower limb spasticity, Dystonia, Ataxia, Clonus, Parkinsonism, Head titubation, C... |
ORPHA:300605 |
Infantile Convulsions And Choreoathetosis |
|
Involuntary movements, Chorea, Choreoathetosis, Athetosis, Dystonia, Paroxysmal dyskinesia |
ORPHA:31709 |
Progressive Familial Heart Block, Type Ia |
|
Sudden cardiac death, Left posterior fascicular block, Right bundle branch block, Syncope, Prolon... |
OMIM:113900 |
Basal Ganglia Calcification, Idiopathic, 5 |
|
Postural tremor, Parkinsonism, Chorea, Hand tremor, Athetosis, Motor tics |
OMIM:615483 |
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Chorea, Gait ataxia, Self-injurious behavior, Compulsive behaviors, Dystonia, Spasticity, Abnorma... |
OMIM:618917 |
Striatonigral Degeneration, Infantile |
|
Choreoathetosis, Spasticity, Dystonia, Dysphagia |
OMIM:271930 |
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Hyperactivity, Dystonia, Impulsivity, Impaired pain sensation, Aggressive behavior, Chorea, Abnor... |
ORPHA:500180 |
Intellectual Developmental Disorder, Autosomal Recessive 6 |
|
Torticollis, Kinetic tremor, Postural tremor, Involuntary movements, Myoclonus |
OMIM:611092 |
Parkinsonism With Spasticity, X-Linked |
|
Resting tremor, Parkinsonism, Babinski sign, Cogwheel rigidity, Bradykinesia, Spasticity |
OMIM:300911 |
Cataract 11, Multiple Types |
|
Chorea, Hypertonia |
OMIM:610623 |
Romano-Ward Syndrome |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Abnormal autonomic nervous system physiology, T... |
ORPHA:101016 |
Spinocerebellar Ataxia 40 |
|
Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadoch... |
OMIM:616053 |
Jervell And Lange-Nielsen Syndrome |
|
Syncope, Bilateral sensorineural hearing impairment, Torsade de pointes, Arrhythmia, Prolonged QT... |
ORPHA:90647 |
Huntington Disease-Like 2 |
|
Chorea, Involuntary movements, Parkinsonism, Dystonia |
ORPHA:98934 |
Brunner Syndrome |
|
Self-injurious behavior, Kinetic tremor, Impulsivity, Aggressive behavior |
OMIM:300615 |
X-Linked Dystonia-Parkinsonism |
|
Resting tremor, Chorea, Torsion dystonia, Hand tremor, Focal dystonia, Blepharospasm, Bradykinesi... |
ORPHA:53351 |
Familial Progressive Cardiac Conduction Defect |
|
Bundle branch block, Heart block, Congestive heart failure, Vertigo, Syncope, Arrhythmia |
ORPHA:871 |
Sick Sinus Syndrome 2 |
|
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... |
OMIM:163800 |
Cardiomyopathy, Familial Hypertrophic, 26 |
|
Atrial fibrillation, Sudden cardiac death, Congestive heart failure, Permanent atrial fibrillatio... |
OMIM:617047 |
Juvenile Huntington Disease |
|
Hyperactivity, Ataxia, Rigidity, Chorea, Gait ataxia, Bradykinesia, Progressive cerebellar ataxia... |
ORPHA:248111 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Hyperactivity, Axial hypotonia, Ataxia, Aggressive behavior, Tremor, Choreoathetosis, Dystonia, O... |
OMIM:612716 |
Spinocerebellar Ataxia Type 37 |
|
Somatic sensory dysfunction, Tremor, Sensorineural hearing impairment, Cogwheel rigidity, Dysdiad... |
ORPHA:363710 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Dystonia, Ataxia, Paralysis, Chorea, Choreoathetosis, Hemiparesis, Hypertonia, Myoclonus, Extrapy... |
ORPHA:71277 |
Hypermanganesemia With Dystonia 2 |
|
Generalized dystonia, Dystonia, Parkinsonism, Axial hypotonia, Tremor, Babinski sign, Scissor gai... |
OMIM:617013 |
Facial Onset Sensory And Motor Neuronopathy |
|
Paresthesia, Fasciculations, Dysphagia |
ORPHA:85162 |
Pontocerebellar Hypoplasia, Type 2B |
|
Dystonia, Axial hypotonia, Clonus, Chorea, Babinski sign, Hypotonia, Opisthotonus, Extrapyramidal... |
OMIM:612389 |
Developmental And Epileptic Encephalopathy 27 |
|
Axial hypotonia, Chorea, Hypotonia, Myoclonus, Dystonia, Spasticity |
OMIM:616139 |
Auditory Neuropathy, Autosomal Dominant 1 |
|
Abnormal speech discrimination, Sensorineural hearing impairment, Absence of acoustic reflex, Abn... |
OMIM:609129 |
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Tremor, Spasticity, Babinski sign, Ataxia |
OMIM:611105 |
Intellectual Developmental Disorder, Autosomal Dominant 69 |
|
Attention deficit hyperactivity disorder, Intention tremor |
OMIM:617863 |
Snijders Blok-Fisher Syndrome |
|
Facial hypotonia, Opisthotonus, Choreoathetosis, Generalized hypotonia, Spasticity |
OMIM:618604 |
Spinocerebellar Ataxia, Autosomal Recessive 3 |
|
Ataxia, Cochlear degeneration, Hearing impairment |
OMIM:271250 |
Neurodevelopmental Disorder With Involuntary Movements |
|
Dystonia, Involuntary movements, Chorea, Athetosis, Self-injurious behavior, Hyperkinetic movemen... |
OMIM:617493 |
Developmental And Epileptic Encephalopathy 97 |
|
Tremor, Hypotonia, Stereotypical hand wringing |
OMIM:619561 |
Intellectual Developmental Disorder With Autism And Speech Delay |
|
Inability to walk, Abnormal repetitive mannerisms |
OMIM:606053 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Somatic sensory dysfunction, Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyra... |
ORPHA:240103 |
Basal Ganglia Calcification, Idiopathic, 1 |
|
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Bradykinesia, Athetosis, Dysdiad... |
OMIM:213600 |
7Q31 Microdeletion Syndrome |
|
Hyperactivity, Hypoplasia of the cochlea, Hypoplasia of the semicircular canal, Gastroesophageal ... |
ORPHA:251061 |
Intellectual Developmental Disorder, Autosomal Recessive 77 |
|
Head tremor, Self-biting |
OMIM:619988 |
Brugada Syndrome 6 |
|
ST segment elevation, Ventricular fibrillation, Cardiac arrest |
OMIM:613119 |
Cochleosaccular Degeneration-Cataract Syndrome |
|
Progressive sensorineural hearing impairment, Ataxia, Cochlear degeneration |
ORPHA:3233 |
Opticocochleodentate Degeneration |
|
Optic atrophy, Cochlear degeneration, Hearing impairment |
OMIM:258700 |
Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Axial hypotonia, Tremor, Myoclonus, Dystonia, Frequent falls |
OMIM:619647 |
Brugada Syndrome 7 |
|
Atrial flutter, Paroxysmal atrial fibrillation, ST segment elevation, Permanent atrial fibrillati... |
OMIM:613120 |
N-Acetylaspartate Deficiency |
|
Broad-based gait, Unsteady gait, Truncal ataxia, Abnormal repetitive mannerisms, Self-mutilation |
OMIM:614063 |
Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... |
OMIM:260300 |
Dystonia 6, Torsion |
|
Torticollis, Writer's cramp, Torsion dystonia, Myoclonus, Limb dystonia, Oromandibular dystonia, ... |
OMIM:602629 |
Hyperphenylalaninemia, Bh4-Deficient, D |
|
Tremor, Hypertonia, Generalized hypotonia |
OMIM:264070 |
Spinocerebellar Ataxia Type 2 |
|
Postural tremor, Parkinsonism, Kinetic tremor, Chorea, Gait ataxia, Progressive cerebellar ataxia... |
ORPHA:98756 |
Ataxia With Fasciculations |
|
Ataxia, Fasciculations |
OMIM:108700 |
Migraine, Familial Hemiplegic, 1 |
|
Ataxia, Tremor, Hemiparesis, Agitation, Hemiplegia |
OMIM:141500 |
Pendred Syndrome |
|
Hyperparathyroidism, Vertigo, Sensorineural hearing impairment, Abnormality of the inner ear, Hyp... |
ORPHA:705 |
Infantile Dystonia-Parkinsonism |
|
Cerebral palsy, Axial hypotonia, Parkinsonism, Oculogyric crisis, Chorea, Abnormal pyramidal sign... |
ORPHA:238455 |
Spinocerebellar Ataxia 50 |
|
Postural tremor, Ataxia, Chorea, Myoclonus, Head tremor, Apraxia, Action tremor |
OMIM:620158 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Axial hypotonia, Ataxia, Impulsivity, Aggressive behavior, Tongue thrusting, Hypotonia, Opisthoto... |
OMIM:619580 |
Autosomal Spastic Paraplegia Type 72 |
|
Rigidity, Postural tremor, Spastic gait, Impaired vibration sensation at ankles |
ORPHA:401849 |
Incessant Infant Ventricular Tachycardia |
|
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge... |
ORPHA:45453 |
Ravine Syndrome |
|
Ataxia, Anorexia, Abnormal auditory evoked potentials, Atrophy/Degeneration affecting the brainst... |
ORPHA:99852 |
Spinocerebellar Ataxia Type 38 |
|
Tremor, Somatic sensory dysfunction, Difficulty walking, Gait ataxia |
ORPHA:423296 |
Parkinson Disease 13, Autosomal Dominant, Susceptibility To |
|
Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia |
OMIM:610297 |
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive |
|
Involuntary movements, Hypotonia, Self-injurious behavior, Dystonia, Spasticity, Abnormal repetit... |
OMIM:617820 |
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Tremor, Chorea, Gait ataxia, Myoclonus, Generalized hypotonia, Truncal ataxia |
OMIM:618587 |
Spinocerebellar Ataxia, X-Linked 5 |
|
Neonatal hypotonia, Ataxia, Action tremor |
OMIM:300703 |
Rett Syndrome |
|
Dystonia, Cachexia, Gait apraxia, Bruxism, Gait ataxia, EEG abnormality, Truncal ataxia, Abnormal... |
OMIM:312750 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Broad-based gait, Hand tremor, Gait ataxia, Dysphagia, Recurrent hand flapping, Abnormal repetiti... |
OMIM:617862 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Cardiomegaly, Left ventricular di... |
OMIM:618052 |
Pontocerebellar Hypoplasia, Type 2A |
|
Restlessness, Dystonia, Chorea, Opisthotonus, Extrapyramidal dyskinesia, Dysphagia |
OMIM:277470 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hyperactivity, Ataxia, Tremor, Abnormal pyramidal sign, Tetraparesis, Myoclonus, Dystonia, Spasti... |
OMIM:615924 |
Brugada Syndrome 8 |
|
Right bundle branch block, ST segment elevation, Ventricular tachycardia |
OMIM:613123 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7 |
|
Tremor, Vocal cord paresis, Vocal cord paralysis |
OMIM:158580 |
Brugada Syndrome 2 |
|
Sudden cardiac death, First degree atrioventricular block, Right bundle branch block, Syncope, Pr... |
OMIM:611777 |
Dystonia 16 |
|
Limb dystonia, Torticollis, Postural tremor, Parkinsonism, Abnormal pyramidal sign, Bradykinesia,... |
ORPHA:210571 |
Pontocerebellar Hypoplasia, Type 2D |
|
Appendicular spasticity, Chorea, Clonus, Spastic tetraplegia |
OMIM:613811 |
Urocanase Deficiency |
|
Broad-based gait, Ataxia, Aggressive behavior, Dysmetria, Gait ataxia, Truncal ataxia, Action tremor |
OMIM:276880 |
Tremor, Hereditary Essential, 4 |
|
Postural tremor, Action tremor |
OMIM:614782 |
Myoclonus-Cerebellar Ataxia-Deafness Syndrome |
|
Progressive cerebellar ataxia, Progressive gait ataxia, Bilateral sensorineural hearing impairmen... |
ORPHA:2589 |
Atrial Standstill |
|
Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Vertigo, Congestive... |
ORPHA:1344 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hyperactivity, Spastic tetraparesis, Aggressive behavior, Tremor, Hypotonia, Abnormal repetitive ... |
OMIM:619470 |
Pandas |
|
Anorexia, Impulsivity, Abnormal fear-induced behavior, Chorea, Clumsiness, Tics, Attention defici... |
ORPHA:66624 |
Hyperprolinemia, Type I |
|
Hyperactivity, Ataxia, Aggressive behavior, Hypotonia, Generalized hypotonia, Abnormal repetitive... |
OMIM:239500 |
Cardiomyopathy, Familial Hypertrophic, 10 |
|
Sudden cardiac death, Vertigo, Ventricular tachycardia, Left bundle branch block, Asymmetric sept... |
OMIM:608758 |
Hyperphenylalaninemia, Bh4-Deficient, C |
|
Dystonia, Tremor, Hypotonia, Choreoathetosis, Hypertonia, Myoclonus, Dysphagia |
OMIM:261630 |
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss |
|
Tremor, Distal sensory impairment, Hearing impairment |
OMIM:614369 |
Epilepsy, Progressive Myoclonic, 1B |
|
Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus |
OMIM:612437 |
Adenylosuccinase Deficiency |
|
Hyperactivity, Aggressive behavior, Hypotonia, Opisthotonus, Gait ataxia, Myoclonus, Inappropriat... |
OMIM:103050 |
Wolff-Parkinson-White Syndrome |
|
Wolff-Parkinson-White syndrome, Atrial flutter, Paroxysmal atrial fibrillation, Prolonged QRS com... |
OMIM:194200 |
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type) |
|
Hypertonia, Axial hypotonia, Opisthotonus |
OMIM:616896 |
Huntington Disease-Like 3 |
|
Abnormal head movements, Extrapyramidal muscular rigidity, Chorea, Abnormal pyramidal sign, Progr... |
ORPHA:157946 |
Deafness, Autosomal Recessive 9 |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, Absence of acoustic reflex |
OMIM:601071 |
Brugada Syndrome 5 |
|
ST segment elevation, Bundle branch block, Ventricular fibrillation |
OMIM:612838 |
Spinocerebellar Ataxia Type 20 |
|
Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Vertigo, Abnormal pyramidal... |
ORPHA:101110 |
Brugada Syndrome |
|
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... |
ORPHA:130 |
Familial Hyperaldosteronism Type Iii |
|
Prolonged QT interval, Epistaxis, Intracranial hemorrhage, Hypertension, Left ventricular hypertr... |
ORPHA:251274 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
EEG abnormality, Hyperactivity, Low-set ears |
ORPHA:436151 |
Branchiootorenal Syndrome 1 |
|
Mixed hearing impairment, Intestinal malrotation, Dilatated internal auditory canal, Facial palsy... |
OMIM:113650 |
Spinocerebellar Ataxia, X-Linked 1 |
|
Ataxia, Action tremor, Hypotonia, Abnormality of extrapyramidal motor function, Dysphagia, Neonat... |
OMIM:302500 |
Atrial Septal Defect, Ostium Primum Type |
|
First degree atrioventricular block, Atrioventricular block, Fixed splitting of the second heart ... |
ORPHA:99106 |
Dystonia 16 |
|
Limb dystonia, Generalized dystonia, Postural tremor, Involuntary movements, Parkinsonism, Abnorm... |
OMIM:612067 |
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Limb dystonia, Cerebral palsy, Clonus, Babinski sign, Spastic tetraplegia, Hypotonia, Opisthotonu... |
OMIM:619847 |
Developmental And Epileptic Encephalopathy 6B |
|
Axial hypotonia, Ataxia, Chorea, Hypotonia, Choreoathetosis, Hyperkinetic movements, Myoclonus, D... |
OMIM:619317 |
Autism, Susceptibility To, X-Linked 2 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:300495 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Abnormal repetitive mannerisms, Ataxia, Hypotonia, Attention deficit hyperactivity disorder |
OMIM:618709 |
Progressive Myoclonic Epilepsy Type 1 |
|
Ataxia, Limb ataxia, Myoclonus, Morning myoclonic jerks, Intention tremor |
ORPHA:308 |
Dilated Cardiomyopathy With Ataxia |
|
Prolonged QT interval, Dystonia, Ataxia, Repetitive compulsive behavior, Muscular ventricular sep... |
ORPHA:66634 |
Deafness, X-Linked 6 |
|
Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea |
OMIM:300914 |
Choreoathetosis, Familial Inverted |
|
Rigidity, Progressive choreoathetosis, Abnormal pyramidal sign |
OMIM:118750 |
Spastic Paraparesis And Deafness |
|
Tremor, Spastic paraparesis |
OMIM:312910 |
Dystonia, Dopa-Responsive |
|
Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Babinski sign, Impa... |
OMIM:128230 |
Parkinson Disease 11, Autosomal Dominant, Susceptibility To |
|
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk... |
OMIM:607688 |
Cerebellar Atrophy With Seizures And Variable Developmental Delay |
|
Axial hypotonia, Ataxia, Chorea, Dysmetria, Gait ataxia, Generalized hypotonia |
OMIM:618501 |
Huntington Disease-Like 2 |
|
Rigidity, Chorea, Bradykinesia, Dystonia, Action tremor |
OMIM:606438 |
Mohr-Tranebjaerg Syndrome |
|
Absent brainstem auditory responses, Abnormal vestibular function, Sensorineural hearing impairme... |
ORPHA:52368 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Impulsivity, Aggressive behavior, Poor coordination, Stereotypical body rocking, A... |
OMIM:309548 |
Fraxe Intellectual Disability |
|
Hyperactivity, Impulsivity, Aggressive behavior, Prominent ear helix, Stereotypical body rocking,... |
ORPHA:100973 |
Spinocerebellar Ataxia 35 |
|
Torticollis, Incoordination, Ataxia, Babinski sign, Impaired proprioception, Dysmetria, Pseudobul... |
OMIM:613908 |
Huntington Disease |
|
Rigidity, Chorea, Bradykinesia, Gait ataxia |
OMIM:143100 |
Infantile Neuronal Ceroid Lipofuscinosis |
|
Dystonia, Ataxia, Tremor, Chorea, Dysmetria, Clumsiness, Poor fine motor coordination, Myoclonus,... |
ORPHA:79263 |
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes |
|
Abnormal EKG, Somatic sensory dysfunction, Optic atrophy, Cardiomyopathy, Progressive gait ataxia... |
ORPHA:1177 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6 |
|
Bradykinesia, Chorea, Ataxia |
OMIM:618683 |
Alternating Hemiplegia Of Childhood 1 |
|
Episodic quadriplegia, Dystonia, Episodic hemiplegia, Choreoathetosis |
OMIM:104290 |
Spastic Ataxia 2, Autosomal Recessive |
|
Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetria, Gait ataxia, Ankl... |
OMIM:611302 |
Spinocerebellar Ataxia Type 17 |
|
Torticollis, Ataxia, Involuntary movements, Parkinsonism, Writer's cramp, Rigidity, Chorea, Abnor... |
ORPHA:98759 |
Woolly Hair Nevus |
|
Precocious puberty, Enlarged vestibular aqueduct |
ORPHA:79414 |
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Atrial fibrillation, Ventricular septal defect, Secundum atrial septal defect, Prolonged PR inter... |
OMIM:108900 |
Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Torticollis, Axial hypotonia, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ataxia... |
OMIM:607317 |
Lopes-Maciel-Rodan Syndrome |
|
Dystonia, Axial hypotonia, Tremor, Abnormal pyramidal sign, Dysphagia, Bradykinesia, Ankle clonus... |
OMIM:617435 |
Neurodegeneration, Childhood-Onset, With Brain Atrophy |
|
Dystonia, Ataxia, Parkinsonism, Rigidity, Chorea, Abnormal pyramidal sign, Abnormality of extrapy... |
OMIM:617672 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Generalized dystonia, Opisthotonus, Attention deficit hyperactivity disorder, Dysphagia, Spastici... |
ORPHA:216866 |
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity |
|
Spastic paraplegia, Abnormal pyramidal sign, Choreoathetosis, Paresthesia, Dystonia, Episodic ata... |
ORPHA:53583 |
Developmental And Epileptic Encephalopathy 103 |
|
Hyperactivity, Ataxia, Spastic tetraplegia, Hypotonia, Eyelid myoclonus, Opisthotonus |
OMIM:619913 |
Developmental And Epileptic Encephalopathy 58 |
|
Abnormal repetitive mannerisms, Spastic diplegia, Generalized hypotonia |
OMIM:617830 |
Neurodevelopmental Disorder With Dystonia And Seizures |
|
Chorea, Spastic tetraplegia, Hypotonia, Athetosis, Self-injurious behavior, Dystonia |
OMIM:619922 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... |
OMIM:604400 |
Baker-Gordon Syndrome |
|
Ataxia, Involuntary movements, Choreoathetosis, Self-injurious behavior, Hyperkinetic movements, ... |
OMIM:618218 |
Lesch-Nyhan Phenotype With Normal Hgprt |
|
Choreoathetosis, Spasticity, Self-mutilation |
OMIM:308950 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Restlessness, Aggressive behavior, Rigidity, Babinski sign, Inappropriate behavior, Disinhibition... |
OMIM:600795 |
Benign Paroxysmal Torticollis Of Infancy |
|
Abnormal head movements, Vertigo, Ataxia, Torticollis |
ORPHA:71518 |
Cortical Dysplasia, Complex, With Other Brain Malformations 2 |
|
Self-injurious behavior, Hypertonia, Abnormal repetitive mannerisms, Spastic tetraplegia |
OMIM:615282 |
Tetanus |
|
Tremor, Rigidity, Opisthotonus, Hypertonia, Dysphagia, Spasticity of pharyngeal muscles |
ORPHA:3299 |
3-Methylglutaconic Aciduria, Type V |
|
Prolonged QT interval, Noncompaction cardiomyopathy, Ataxia, Sudden cardiac death, Congestive hea... |
OMIM:610198 |
Chromosome 3Q29 Deletion Syndrome |
|
Hyperactivity, Posteriorly rotated ears, Aggressive behavior, Gait ataxia, Low-set ears, Macrotia... |
OMIM:609425 |
Autosomal Spastic Paraplegia Type 58 |
|
Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Dysm... |
ORPHA:397946 |
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome |
|
Chorea, Generalized hypotonia, Paroxysmal dyskinesia |
ORPHA:79137 |
Spinocerebellar Ataxia 38 |
|
Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus |
OMIM:615957 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Ventricular tachycardia, T-wave inversio... |
OMIM:611528 |
Congenital Heart Block |
|
First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Congestive heart failur... |
ORPHA:60041 |
Myoclonus, Intractable, Neonatal |
|
Chorea, Hypotonia, Athetosis, Myoclonus, Dysphagia, Impaired oral bolus formation |
OMIM:617235 |
Dystonia 2, Torsion, Autosomal Recessive |
|
Torticollis, Tremor, Torsion dystonia, Blepharospasm, Dysphagia |
OMIM:224500 |
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities |
|
Dystonia, Ataxia, Involuntary movements, Rigidity, Chorea, Babinski sign, Hypotonia, Clumsiness, ... |
OMIM:617282 |
Developmental And Epileptic Encephalopathy 101 |
|
Hypotonia, Axial hypotonia, Myoclonus, Opisthotonus |
OMIM:619814 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Hyperactivity, Cerebral palsy, Chorea, Hypotonia, Myoclonus, Attention deficit hyperactivity diso... |
OMIM:617600 |
Huntington Disease |
|
Dystonia, Clonus, Involuntary movements, Oral-pharyngeal dysphagia, Rigidity, Aggressive behavior... |
ORPHA:399 |
Episodic Kinesigenic Dyskinesia 1 |
|
Paroxysmal dystonia, Paroxysmal choreoathetosis |
OMIM:128200 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Hyperactivity, Tremor, Inability to walk, Self-injurious behavior, Low-set ears, Bruxism, Spastic... |
OMIM:618718 |
Huntington Disease-Like 1 |
|
Abnormal head movements, Restlessness, Incoordination, Involuntary movements, Chorea, Slurred spe... |
ORPHA:157941 |
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, Arrhythmia, P... |
ORPHA:542306 |
Cardiomyopathy, Dilated, 1U |
|
Increased left ventricular end-diastolic volume, First degree atrioventricular block, Congestive ... |
OMIM:613694 |
Dystonia 23 |
|
Axial dystonia, Torticollis, Writer's cramp, Myoclonus, Head tremor, Limb dystonia |
OMIM:614860 |
Dystonia 12 |
|
Torticollis, Dystonia, Parkinsonism, Tremor, Bradykinesia, Dysphagia |
OMIM:128235 |
Spinal Muscular Atrophy, Late-Onset, Finkel Type |
|
Tremor, Fasciculations |
OMIM:182980 |
Spinocerebellar Ataxia Type 14 |
|
Somatic sensory dysfunction, Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar a... |
ORPHA:98763 |
Developmental And Epileptic Encephalopathy 84 |
|
Axial hypotonia, Chorea, Babinski sign, Opisthotonus, Generalized hypotonia, Dystonia, Spasticity |
OMIM:618792 |
D-Glyceric Aciduria |
|
Axial hypotonia, Tongue thrusting, Spastic tetraplegia, Hypotonia, Opisthotonus, Myoclonus, Neona... |
OMIM:220120 |
Cerebral Creatine Deficiency Syndrome 1 |
|
Prolonged QT interval, Broad-based gait, Aganglionic megacolon, Aggressive behavior, Underfolded ... |
OMIM:300352 |
Developmental And Epileptic Encephalopathy 78 |
|
Cerebral palsy, Chorea, Hypotonia, Generalized hypotonia, Neonatal hypotonia, Spasticity |
OMIM:618557 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Absent brainstem auditory responses, Facial palsy, Sensorineural hearing impairment, EEG abnormal... |
OMIM:617519 |
Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Tremor, Inability to walk, Impaired distal vibration sensation, Gait disturbance, Tongue fascicul... |
ORPHA:276435 |
Lesch-Nyhan Syndrome |
|
Dystonia, Hypotonia, Opisthotonus, Choreoathetosis, Self-injurious behavior, Abnormality of extra... |
OMIM:300322 |
Myoclonic-Atonic Epilepsy |
|
Ataxia, Tremor, Hypotonia, Eyelid myoclonus, Attention deficit hyperactivity disorder |
OMIM:616421 |
Cerebral Creatine Deficiency Syndrome 2 |
|
Lower limb spasticity, Ataxia, Aggressive behavior, Tremor, Rigidity, Paraparesis, Hypotonia, Hyp... |
OMIM:612736 |
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Tremor, Kinetic tremor |
OMIM:611808 |
Alternating Hemiplegia Of Childhood 2 |
|
Episodic quadriplegia, Ataxia, Tetraplegia, Choreoathetosis, Dystonia, Hemiplegia |
OMIM:614820 |
Spastic Paraplegia 79A, Autosomal Dominant, With Ataxia |
|
Impaired vibratory sensation, Lower limb spasticity, Sensory ataxia, Gait ataxia, Dysphagia, Inte... |
OMIM:620221 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... |
OMIM:601493 |
Sick Sinus Syndrome 3, Susceptibility To |
|
Sick sinus syndrome |
OMIM:614090 |
Parkinson-Dementia Syndrome |
|
Tremor, Abnormal pyramidal sign, Rigidity, Parkinsonism |
OMIM:260540 |
Bundle Branch Block, Familial Isolated Complete Right |
|
Right bundle branch block |
OMIM:113950 |
Spinal Muscular Atrophy, Jokela Type |
|
Tremor, Fasciculations, Difficulty walking, Distal sensory impairment |
OMIM:615048 |
Distal Deletion 10Q |
|
Aggressive behavior, Congenital sensorineural hearing impairment, Cochlear malformation, Protrudi... |
ORPHA:96148 |
Muscular Dystrophy, Becker Type |
|
Abnormal EKG, Arrhythmia, Cardiomyopathy |
OMIM:300376 |
Atrial Fibrillation, Familial, 14 |
|
ST segment elevation, Paroxysmal atrial fibrillation, Hypertension, Prolonged PR interval |
OMIM:615378 |
Dystonia 9 |
|
Spastic paraplegia, Abnormal pyramidal sign, Choreoathetosis, Paresthesia, Dystonia, Episodic ataxia |
OMIM:601042 |
Cirrhotic Cardiomyopathy |
|
Prolonged QT interval, Hepatomegaly, Elevated jugular venous pressure, Left atrial enlargement, C... |
ORPHA:57777 |
Epilepsy, Progressive Myoclonic 7 |
|
Tremor, Ataxia, Myoclonus |
OMIM:616187 |
Intellectual Developmental Disorder, X-Linked 104 |
|
Hyperactivity, Abnormal pinna morphology, Ataxia, Aggressive behavior, Tremor, Spasticity |
OMIM:300983 |
X-Linked Non Progressive Cerebellar Ataxia |
|
Babinski sign, Clumsiness, Spastic dysarthria, Nonprogressive cerebellar ataxia, Truncal ataxia, ... |
ORPHA:314978 |
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures |
|
Dystonia, Ataxia, Babinski sign, Hypotonia, Dysmetria, Choreoathetosis, Positive Romberg sign, Dy... |
OMIM:618088 |
Kearns-Sayre Syndrome |
|
Ataxia, Third degree atrioventricular block, Hearing impairment |
ORPHA:480 |
Apert Syndrome |
|
Esophageal atresia, Sensorineural hearing impairment, Abnormal semicircular canal morphology, Opt... |
ORPHA:87 |
Ataxia-Telangiectasia-Like Disorder |
|
Ataxia, Chorea, Dysmetria, Gait ataxia, Dysdiadochokinesis, Myoclonus, Generalized hypotonia, Dys... |
ORPHA:251347 |
X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Ataxia, Impaired pain sensation, Tremor, Gait disturbance, Hearing impairment |
ORPHA:101075 |
Cardiomyopathy, Dilated, 1Nn |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D... |
OMIM:615916 |
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia |
|
Babinski sign, Disinhibition, Dysphagia, Spasticity, Abnormal repetitive mannerisms |
OMIM:612069 |
Mepan Syndrome |
|
Limb dystonia, Axial dystonia, Dystonia, Ataxia, Hemidystonia, Chorea, Hypotonia, Myoclonus, Dysp... |
ORPHA:508093 |
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome |
|
Self-injurious behavior, Hyperkinetic movements, Hypotonia, Stereotypical hand wringing |
ORPHA:397933 |
Developmental And Epileptic Encephalopathy 31B |
|
Appendicular spasticity, Involuntary movements, Clonus, Hypotonia, Opisthotonus, Myoclonus, Gener... |
OMIM:620352 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Dystonia, Ataxia, Cardiac arrest, Oral-pharyngeal dysphagia, Sensorineural hearing impairment, Op... |
OMIM:616878 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Hypertonia, Opisthotonus |
OMIM:250800 |
Deafness, Autosomal Dominant 9 |
|
Vertigo, Abnormality of the vestibulocochlear nerve, Postlingual sensorineural hearing impairment... |
OMIM:601369 |
Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia |
OMIM:600116 |
Dystonia 15, Myoclonic |
|
Writer's cramp, Myoclonus, Dystonia |
OMIM:607488 |
Developmental And Epileptic Encephalopathy 107 |
|
Appendicular hypotonia, Axial hypotonia, Abnormal repetitive mannerisms, Hypotonia |
OMIM:620033 |
Coenzyme Q10 Deficiency, Primary, 9 |
|
Lower limb spasticity, Ataxia, Impulsivity, Tremor, Dysmetria, Myoclonus, Oppositional defiant di... |
OMIM:619028 |
Glut1 Deficiency Syndrome 1 |
|
Paroxysmal dystonia, Ataxia, Paralysis, Babinski sign, Choreoathetosis, Hemiparesis, Myoclonus, S... |
OMIM:606777 |
Timothy Syndrome |
|
Prolonged QT interval, Ventricular septal defect, Cardiomegaly, Ventricular tachycardia, Atrioven... |
OMIM:601005 |
Episodic Ataxia Type 4 |
|
Abnormal head movements, Incoordination, Ataxia, Vertigo, Frequent falls |
ORPHA:79136 |
Ataxia-Telangiectasia-Like Disorder 1 |
|
Lower limb spasticity, Ataxia, Chorea, Hypotonia, Dysmetria, Gait ataxia, Choreoathetosis, Dysdia... |
OMIM:604391 |
Developmental And Epileptic Encephalopathy 17 |
|
Athetosis, Chorea, Dystonia |
OMIM:615473 |
Andersen-Tawil Syndrome |
|
Prolonged QT interval, Bidirectional ventricular ectopy, Polymorphic ventricular tachycardia, Dil... |
ORPHA:37553 |
Tremor, Hereditary Essential, 2 |
|
Kinetic tremor, Upper limb postural tremor |
OMIM:602134 |
Rapid-Onset Dystonia-Parkinsonism |
|
Limb dystonia, Resting tremor, Torticollis, Parkinsonism, Gait ataxia, Bradykinesia, Generalized ... |
ORPHA:71517 |
Gm2 Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Abnormal fear-induced behavior, Chorea, Abnormal pyramidal sign, Pr... |
ORPHA:309246 |
Intellectual Developmental Disorder With Hypertelorism And Distinctive Facies |
|
Recurrent hand flapping, Posteriorly rotated ears, Low-set ears |
OMIM:618147 |
Lichtenstein-Knorr Syndrome |
|
Ataxia, Sensorineural hearing impairment, Dysmetria, Gait ataxia, Limb ataxia, Dysdiadochokinesis... |
OMIM:616291 |
Chiari Malformation Type Ii |
|
Ataxia, Hypotonia, Opisthotonus, Generalized hypotonia, Dysphagia |
OMIM:207950 |
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Prolonged QT interval, Abnormal EKG, Dystonia, Ataxia, Sensorineural hearing impairment, Optic at... |
ORPHA:480864 |
Myofibrillar Myopathy 10 |
|
Left ventricular hypertrophy, Prolonged QTc interval, Increased QRS voltage |
OMIM:619040 |
Adult Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Abnormality of extrapyramidal motor function... |
ORPHA:79262 |
Pendred Syndrome |
|
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear malformation,... |
OMIM:274600 |
Combined Oxidative Phosphorylation Deficiency 27 |
|
Severe muscular hypotonia, Chorea, Hypotonia, Opisthotonus, Myoclonus, Tetraparesis, Dystonia |
OMIM:616672 |
Spinocerebellar Ataxia Type 12 |
|
Ataxia, Parkinsonism, Postural tremor, Action tremor, Unsteady gait, Abnormal pyramidal sign, Bra... |
ORPHA:98762 |
Parkinson Disease 22, Autosomal Dominant |
|
Resting tremor, Restless legs, Rigidity, Bradykinesia, Parkinsonism with favorable response to do... |
OMIM:616710 |
Epilepsy, Familial Adult Myoclonic, 4 |
|
Tremor, Myoclonus |
OMIM:615127 |
Spastic Paraplegia 6, Autosomal Dominant |
|
Lower limb spasticity, Clonus, Tremor, Spastic paraplegia, Impaired vibration sensation in the lo... |
OMIM:600363 |
X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Ataxia, Impaired pain sensation, Tremor, Gait disturbance, Hearing impairment |
ORPHA:101078 |
Neurodegeneration With Brain Iron Accumulation 8 |
|
Ataxia, Tremor, Unsteady gait, Dysmetria, Loss of ambulation |
OMIM:617917 |
Gordon Holmes Syndrome |
|
Chorea, Ataxia |
OMIM:212840 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Hyperactivity, Tremor, Rigidity, Inability to walk, Dysmetria, Gait ataxia, Gait disturbance |
OMIM:618090 |
Corticobasal Syndrome |
|
Speech apraxia, Somatic sensory dysfunction, Dystonia, Parkinsonism, Limb apraxia, Involuntary mo... |
ORPHA:454887 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials, Dis... |
OMIM:601382 |
Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Hyperactivity, Aggressive behavior, Anteverted ears, Macrotia, Abnormal repetitive mannerisms |
OMIM:615541 |
Spinocerebellar Ataxia Type 28 |
|
Dystonia, Kinetic tremor, Parkinsonism, Rigidity, Babinski sign, Limb ataxia, Gait ataxia, Head t... |
ORPHA:101109 |
Glutaric Acidemia I |
|
Rigidity, Spastic diplegia, Hypotonia, Opisthotonus, Choreoathetosis, Generalized hypotonia, Dyst... |
OMIM:231670 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ... |
OMIM:612158 |
X-Linked Charcot-Marie-Tooth Disease Type 6 |
|
Sensorineural hearing impairment, Impaired vibration sensation in the lower limbs, Hand tremor, D... |
ORPHA:352675 |
Spastic Paraplegia 78, Autosomal Recessive |
|
Impaired vibratory sensation, Resting tremor, Ataxia, Parkinsonism, Aggressive behavior, Babinski... |
OMIM:617225 |
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities |
|
Abnormal EKG, Pulmonic stenosis |
OMIM:178650 |
Dystonia 13, Torsion, Autosomal Dominant |
|
Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula... |
OMIM:607671 |
Primary Dystonia, Dyt2 Type |
|
Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm... |
ORPHA:99657 |
Congenital Disorder Of Glycosylation, Type Ip |
|
Neonatal hypotonia, Hypotonia, Opisthotonus |
OMIM:613661 |
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures |
|
Hyperactivity, Aggressive behavior, Gastroesophageal reflux, Attention deficit hyperactivity diso... |
OMIM:620292 |
Optic Atrophy 3, Autosomal Dominant |
|
Tremor, Abnormality of extrapyramidal motor function |
OMIM:165300 |
Spinocerebellar Ataxia, Autosomal Recessive 6 |
|
Ataxia, Hypotonia, Dysmetria, Clumsiness, Gait ataxia, Generalized hypotonia, Spasticity, Intenti... |
OMIM:608029 |
Cardiomyopathy, Dilated, 1V |
|
Increased left ventricular end-diastolic volume, Atrial fibrillation, First degree atrioventricul... |
OMIM:613697 |
Tako-Tsubo Cardiomyopathy |
|
Prolonged QT interval, Atrial fibrillation, Mildly reduced left ventricular ejection fraction, An... |
ORPHA:66529 |
Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Tremor, Babinski sign, Unsteady gait, Limb ataxia, Ankle clonus, Truncal ataxia, Spasticity |
OMIM:615768 |
Deafness, X-Linked 5, With Peripheral Neuropathy |
|
Abnormal middle ear reflexes, Vertigo, Unsteady gait, Cochlear nerve hypoplasia, Abnormal speech ... |
OMIM:300614 |
Spinocerebellar Ataxia 23 |
|
Impaired distal proprioception, Tremor, Babinski sign, Impaired vibration sensation in the lower ... |
OMIM:610245 |
Idiopathic Neonatal Atrial Flutter |
|
Abnormal EKG, Abnormal atrioventricular conduction, Abnormal left ventricular function, Reduced l... |
ORPHA:45452 |
Developmental And Epileptic Encephalopathy 110 |
|
Pain insensitivity, Axial hypotonia, Chorea, Hypotonia, Bruxism, Spasticity |
OMIM:620149 |
Clcn4-Related X-Linked Intellectual Disability Syndrome |
|
Lower limb spasticity, Hyperactivity, Aggressive behavior, Chorea, Progressive cerebellar ataxia,... |
ORPHA:485350 |
Stxbp1-Related Encephalopathy |
|
Hyperactivity, Ataxia, Tremor, Spastic tetraplegia, Hypotonia, Dystonia, Spasticity |
ORPHA:599373 |
Spinocerebellar Ataxia Type 1 |
|
Dystonia, Postural tremor, Chorea, Slurred speech, Impaired proprioception, Dysmetria, Bradykines... |
ORPHA:98755 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Ataxia, Tremor, Gait ataxia, Large fleshy ears, Impaired tactile sensation, Hypertonia, Myoclonus... |
OMIM:619092 |
Huntington Disease-Like 3 |
|
Ataxia, Chorea, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Dystonia, ... |
OMIM:604802 |
3-Methylglutaconic Aciduria Type 3 |
|
Choreoathetosis, Ataxia, Spastic paraparesis |
ORPHA:67047 |
Neurodegeneration With Brain Iron Accumulation 7 |
|
Lower limb spasticity, Dystonia, Ataxia, Axial hypotonia, Tremor, Hypotonia, Dysmetria, Dysphagia |
OMIM:617916 |
Stiff-Person Syndrome |
|
Exaggerated startle response, Rigidity, Opisthotonus, Myoclonic spasms, Frequent falls |
OMIM:184850 |
Spinocerebellar Ataxia 19 |
|
Postural tremor, Limb ataxia, Cogwheel rigidity, Gait ataxia, Progressive cerebellar ataxia, Dysp... |
OMIM:607346 |
Hyperphenylalaninemia, Bh4-Deficient, B |
|
Dystonia, Severe muscular hypotonia, Tremor, Rigidity, Choreoathetosis, Hyperkinetic movements, G... |
OMIM:233910 |
Methylmalonic Aciduria And Homocystinuria, Cblx Type |
|
Choreoathetosis, Athetosis, Chorea, Hypotonia |
OMIM:309541 |
Hirschsprung Disease-Ganglioneuroblastoma Syndrome |
|
Prolonged QT interval, Arrhythmia |
ORPHA:2151 |
Gitelman Syndrome |
|
Prolonged QT interval, Salt craving, Raynaud phenomenon, Pericardial effusion, Vertigo, Low-to-no... |
ORPHA:358 |
Basal Ganglia Calcification, Idiopathic, 6 |
|
Choreoathetosis, Involuntary movements, Parkinsonism |
OMIM:616413 |
Pontocerebellar Hypoplasia, Type 11 |
|
Self-injurious behavior, Attention deficit hyperactivity disorder, Dysphagia, Macrotia, Abnormal ... |
OMIM:617695 |
Pontocerebellar Hypoplasia, Type 7 |
|
Ataxia, Spastic paraplegia, Hypotonia, Opisthotonus, Choreoathetosis, Hypertonia, Tongue fascicul... |
OMIM:614969 |
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Ventricular hypertrophy, ST segment elevation, Vertigo, Ventricular tachycardia, Ventricular sept... |
ORPHA:263297 |
Attrv122I Amyloidosis |
|
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Restrictive cardiomyopathy, ... |
ORPHA:85451 |
Autosomal Recessive Spastic Paraplegia Type 70 |
|
Lower limb spasticity, Hand tremor, Progressive spastic paraplegia |
ORPHA:401835 |
Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Parkinsonism, Infantile axial hypotonia, Tremor, Babinski sign, Scissor gait, Ankle clonus, Brady... |
ORPHA:521406 |
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Limb ataxia, Dysdiadochokinesis,... |
OMIM:617145 |
Proximal Myopathy With Extrapyramidal Signs |
|
Resting tremor, Ataxia, Involuntary movements, Chorea, Dystonia, Progressive extrapyramidal muscu... |
ORPHA:401768 |
3-Methylglutaconic Aciduria Type 7 |
|
Abnormal pyramidal sign, Hypotonia, Spasticity, Opisthotonus, Choreoathetosis, Hypertonia, Abnorm... |
ORPHA:445038 |
Atypical Rett Syndrome |
|
Restrictive behavior, Dystonia, Involuntary movements, Impaired pain sensation, Tremor, Inability... |
ORPHA:3095 |
Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia |
|
Cerebral palsy, Axial hypotonia, Chorea, Babinski sign, Choreoathetosis, Hypertonia, Dystonia, Sp... |
OMIM:618451 |
Parkinson Disease 7, Autosomal Recessive Early-Onset |
|
Resting tremor, Postural tremor, Rigidity, Leg dystonia, Blepharospasm, Bradykinesia, Parkinsonis... |
OMIM:606324 |
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome |
|
Bundle branch block, Arrhythmia, Abnormal cardiac septum morphology |
ORPHA:1479 |
Behavioral Variant Of Frontotemporal Dementia |
|
Restrictive behavior, Collectionism, Restlessness, Aggressive behavior, Inappropriate behavior, A... |
ORPHA:275864 |
Combined Oxidative Phosphorylation Deficiency 4 |
|
Neonatal hypotonia, Spasticity, Opisthotonus |
OMIM:610678 |
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Myoclonus, Dystonia, Parkinsonism... |
ORPHA:314632 |
Schimke X-Linked Mental Retardation Syndrome |
|
Choreoathetosis, Spasticity |
OMIM:312840 |
Parkinson Disease 6, Autosomal Recessive Early-Onset |
|
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Dystonia |
OMIM:605909 |
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Speech apraxia, Aggressive behavior, Self-injurious behavior, Compulsive behaviors, Attention def... |
OMIM:613670 |
Spinocerebellar Ataxia 12 |
|
Axial dystonia, Parkinsonism, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis, Head ... |
OMIM:604326 |
Epilepsy, Familial Adult Myoclonic, 5 |
|
Tremor, Myoclonus |
OMIM:615400 |
Muscular Dystrophy, Cardiac Type |
|
Abnormal EKG, Cardiomyopathy |
OMIM:309930 |
Xq28 (MECP2) duplication |
|
Constipation, Gastroesophageal reflux, Dysphagia, Macrotia, Abnormal repetitive mannerisms |
DECIPHER:45 |
Intellectual Developmental Disorder With Autism And Dysmorphic Facies |
|
Cleft palate, High palate, Compulsive behaviors, Low-set ears, Attention deficit hyperactivity di... |
OMIM:620021 |
Dystonia 28, Childhood-Onset |
|
Torticollis, Tremor, Myoclonus, Retrocollis, Dystonia, Oromandibular dystonia, Spasticity, Laryng... |
OMIM:617284 |
Spinocerebellar Ataxia 18 |
|
Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia |
OMIM:607458 |
Usher Syndrome Type 1 |
|
Ataxia, Sensorineural hearing impairment, Abnormal cochlea morphology, Subcortical cerebral atrop... |
ORPHA:231169 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Somatic sensory dysfunction, Ataxia, Abnormal auditory evoked potentials, Sensorineural hearing i... |
ORPHA:320401 |
Congenital Heart Defects, Multiple Types, 3 |
|
Tachycardia, Atrial fibrillation, Atrioventricular block, Abnormal heart morphology, Right bundle... |
OMIM:614954 |
Familial Infantile Bilateral Striatal Necrosis |
|
Dystonia, Ataxia, Spastic tetraparesis, Rigidity, Babinski sign, Gait ataxia, Choreoathetosis, Co... |
ORPHA:225154 |
Aminoacylase 1 Deficiency |
|
Cerebellar atrophy, Hyperactivity, Sensorineural hearing impairment, Cerebral atrophy, Bradycardi... |
OMIM:609924 |
Spinocerebellar Ataxia Type 27 |
|
Akinesia, Aggressive behavior, Tremor, Hand tremor, Gait ataxia, Limb ataxia, Gait disturbance, D... |
ORPHA:98764 |
Intellectual Developmental Disorder, X-Linked 101 |
|
Hyperactivity, Macrotia, Optic atrophy |
OMIM:300928 |
Coffin-Siris Syndrome 6 |
|
Posteriorly rotated ears, High, narrow palate, Cleft palate, Gastroesophageal reflux, Constipatio... |
OMIM:617808 |
3-Methylglutaconic Aciduria, Type Viib |
|
Ataxia, Tremor, Hypotonia, Opisthotonus, Choreoathetosis, Hyperkinetic movements, Myoclonus, Dyst... |
OMIM:616271 |
Spinocerebellar Ataxia Type 40 |
|
Broad-based gait, Unsteady gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spastic paraparesis,... |
ORPHA:423275 |
Cataract-Ataxia-Deafness Syndrome |
|
Ataxia, Tremor, Sensorineural hearing impairment, Hypertonia, Adult onset sensorineural hearing i... |
ORPHA:1368 |
Cardiomyopathy, Dilated, 1Bb |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:612877 |
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements |
|
Dystonia, Hypotonia, Choreoathetosis, Hyperkinetic movements, Myoclonus, Bruxism, Stereotypical h... |
OMIM:618497 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Absent brainstem auditory responses, Aganglionic megacolon, Short-segment aganglionic megacolon, ... |
OMIM:609136 |
Cardiomyopathy, Dilated, 1E |
|
Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio... |
OMIM:601154 |
Usher Syndrome Type 3 |
|
Abnormal cochlea morphology, Sensorineural hearing impairment, Vestibular hypofunction |
ORPHA:231183 |
Developmental And Epileptic Encephalopathy 40 |
|
Axial hypotonia, Spastic tetraparesis, Hypotonia, Choreoathetosis, Myoclonus, Spasticity |
OMIM:617065 |
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Dystonia, Atrioventricular block, Prominent antihelix, Bradycardia, Truncal ataxia, Macrotia, Int... |
OMIM:614407 |
Sporadic Infantile Bilateral Striatal Necrosis |
|
Resting tremor, Dystonia, Parkinsonism, Infantile axial hypotonia, Chorea, Babinski sign, Titubat... |
ORPHA:225147 |
Pontocerebellar Hypoplasia, Type 2E |
|
Spastic tetraplegia, Opisthotonus, Hypertonia, Myoclonus, Neonatal hypotonia, Spasticity |
OMIM:615851 |
Atrial Fibrillation, Familial, 18 |
|
Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio... |
OMIM:617280 |
Loeffler Endocarditis |
|
Aortic regurgitation, Abnormal morphology of the chordae tendinae of the mitral valve, Pericardit... |
ORPHA:75566 |
Neuroferritinopathy |
|
Resting tremor, Dystonia, Parkinsonism, Involuntary movements, Writer's cramp, Chorea, Babinski s... |
ORPHA:157846 |
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement |
|
Torticollis, Upper limb postural tremor, Hand tremor, Blepharospasm, Myoclonus, Limb dystonia, Or... |
ORPHA:420485 |
Multifocal Atrial Tachycardia |
|
Atrial septal defect, Atrial flutter, Tachycardia, Atrial fibrillation, Ventricular septal defect... |
ORPHA:3282 |
Atrial Standstill 1 |
|
Ventricular escape rhythm, Atrial cardiomyopathy, Paroxysmal atrial fibrillation, First degree at... |
OMIM:108770 |
Smith-Magenis Syndrome |
|
Hyperactivity, Abnormality of the thyroid gland, Abnormal repetitive mannerisms, Velopharyngeal i... |
OMIM:182290 |
Congenital Left Ventricular Aneurysm |
|
Congestive heart failure, Arrhythmia, Abnormal ST segment, Abnormal T-wave |
ORPHA:1055 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 15 |
|
Myoclonus, Aggressive behavior, Eyelid myoclonus |
OMIM:618357 |
Parkinson Disease 17 |
|
Resting tremor, Parkinsonism, Tremor, Rigidity, Bradykinesia |
OMIM:614203 |
Dystonia 24 |
|
Torticollis, Limb tremor, Blepharospasm, Arm dystonia, Head tremor, Oromandibular dystonia |
OMIM:615034 |
Alpers-Huttenlocher Syndrome |
|
Ataxia, Paraparesis, Hypotonia, Choreoathetosis, Myoclonus, Progressive spasticity, Spastic parap... |
ORPHA:726 |
Cardiomyopathy, Dilated, 2G |
|
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Left atrial enlargement, Cerebral hem... |
OMIM:619897 |
Cardiomyopathy, Familial Hypertrophic, 6 |
|
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... |
OMIM:600858 |
Intellectual Developmental Disorder, Autosomal Recessive 73 |
|
Impulsivity, Recurrent hand flapping, Posteriorly rotated ears, Low-set ears |
OMIM:619717 |
Ventricular Tachycardia, Familial |
|
Right bundle branch block, Cardiomyopathy, Paroxysmal ventricular tachycardia, Sudden cardiac death |
OMIM:192605 |
Ménétrier Disease |
|
Gastrointestinal hemorrhage, Helicobacter pylori infection, Nausea, Anorexia, Abnormal gastric mu... |
ORPHA:2494 |
Neonatal Lupus Erythematosus |
|
Prolonged QT interval, Hepatomegaly, Heart block, Splenomegaly, Dilated cardiomyopathy, Atriovent... |
ORPHA:398124 |
Deafness-Hypogonadism Syndrome |
|
Stapes ankylosis, Hypergonadotropic hypogonadism, Abnormality of the middle ear ossicles, Severe ... |
ORPHA:90646 |
Spinocerebellar Ataxia 1 |
|
Impaired vibratory sensation, Impaired pain sensation, Chorea, Babinski sign, Impaired propriocep... |
OMIM:164400 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Dystonia, Ataxia, Tremor, Chorea, Impaired distal vibration sensation, Limb ataxia, Gait ataxia, ... |
OMIM:208920 |
Cardiomyopathy, Familial Hypertrophic, 16 |
|
Atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asy... |
OMIM:613838 |
Mannosidosis, Beta A, Lysosomal |
|
Hyperactivity, Aggressive behavior, Hearing impairment |
OMIM:248510 |
Pyruvate Dehydrogenase E2 Deficiency |
|
Paroxysmal dystonia, Neonatal hypotonia, Generalized dystonia, Ataxia, Hypotonia, Choreoathetosis... |
OMIM:245348 |
Left Ventricular Noncompaction 1 |
|
Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no... |
OMIM:604169 |
Aceruloplasminemia |
|
Torticollis, Ataxia, Chorea, Cogwheel rigidity, Blepharospasm, Abnormality of extrapyramidal moto... |
OMIM:604290 |
Epilepsy, Progressive Myoclonic, 8 |
|
Limb ataxia, Choreoathetosis, Myoclonus, Truncal ataxia, Action myoclonus |
OMIM:616230 |
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Hyperactivity, Aggressive behavior, Sensorineural hearing impairment, Protruding ear, High palate... |
OMIM:618342 |
Canavan Disease |
|
Abnormal pyramidal sign, Hypotonia, Opisthotonus |
OMIM:271900 |
Christianson Syndrome |
|
Gastroesophageal reflux, Inappropriate laughter, Dysphagia, Macrotia, Abnormal repetitive mannerisms |
ORPHA:85278 |
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy |
|
Choreoathetosis, Spasticity, Axial hypotonia, Dystonia |
OMIM:614249 |
Chromosome Xq21 Deletion Syndrome |
|
Conductive hearing impairment, Progressive sensorineural hearing impairment, Incomplete partition... |
OMIM:303110 |
Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Axial hypotonia, Spastic tetraparesis, Opisthotonus, Abnormality of extrapyramidal motor function... |
OMIM:605711 |
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 |
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures |
|
Spastic ataxia, Generalized hypotonia, Abnormal repetitive mannerisms, Attention deficit hyperact... |
OMIM:618906 |
Cardiomyopathy, Familial Hypertrophic, 14 |
|
Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc... |
OMIM:613251 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
High-frequency sensorineural hearing impairment, Waddling gait, Tremor, Inability to walk, Sensor... |
ORPHA:2590 |
Coronary Arterial Fistula |
|
Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Tachycardia, Angina pect... |
ORPHA:2041 |
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures |
|
Prolonged QT interval, Optic nerve hypoplasia, Low-set ears, Dysphagia, Attention deficit hyperac... |
OMIM:620029 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hypertension, Syncope, Isch... |
ORPHA:90065 |
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome |
|
Impaired vibration sensation in the lower limbs, Gait ataxia, Spastic dysarthria, Progressive cer... |
ORPHA:95433 |
Beta-Propeller Protein-Associated Neurodegeneration |
|
Dystonia, Parkinsonism, Aggressive behavior, Tremor, Rigidity, Bradykinesia, Spastic paraparesis |
ORPHA:329284 |
Spinocerebellar Ataxia 8 |
|
Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Dysphagia, Spasti... |
OMIM:608768 |
Optic Atrophy 8 |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Optic atrophy, Prolonged s... |
OMIM:616648 |
Hyperphenylalaninemia, Bh4-Deficient, A |
|
Dystonia, Ataxia, Parkinsonism, Axial hypotonia, Tremor, Rigidity, Choreoathetosis, Bradykinesia,... |
OMIM:261640 |
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Tremor, Ataxia, Generalized hypotonia |
OMIM:619099 |
Spinocerebellar Ataxia Type 36 |
|
Ataxia, Vertigo, Babinski sign, Limb myoclonus, Truncal ataxia, Dysmetria, Hand tremor, Limb atax... |
ORPHA:276198 |
Fg Syndrome 3 |
|
Hyperactivity, Cryptorchidism, Sensorineural hearing impairment, Pyloric stenosis, Chronic consti... |
OMIM:300406 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy |
|
Dysphagia, Bilateral conductive hearing impairment, Low-set ears, Interictal epileptiform activit... |
OMIM:617802 |
Potocki-Lupski Syndrome |
|
Hyperactivity, Oral-pharyngeal dysphagia, Hypothyroidism, EEG abnormality, High palate, Gastroeso... |
OMIM:610883 |
Combined Oxidative Phosphorylation Deficiency 45 |
|
Tremor, Ataxia, Low-set ears |
OMIM:618951 |
Cardiomyopathy, Familial Hypertrophic, 8 |
|
Cardiac arrest, Sudden cardiac death, Left atrial enlargement, Congestive heart failure, T-wave i... |
OMIM:608751 |
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders |
|
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:620065 |
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures |
|
Chorea, Generalized hypotonia, Spasticity, Dystonia |
OMIM:613970 |
Neurodegeneration With Brain Iron Accumulation 2B |
|
Hyperactivity, Dystonia, Impulsivity, Chorea, Babinski sign, Dysmetria, Gait ataxia, Bradykinesia... |
OMIM:610217 |
Developmental And Epileptic Encephalopathy 64 |
|
Paroxysmal dystonia, Dystonia, Chorea, Hypotonia, Hemiparesis, Self-injurious behavior, Bruxism, ... |
OMIM:618004 |
X-Linked Creatine Transporter Deficiency |
|
Hyperactivity, Ataxia, Chorea, Hypotonia, Athetosis, Hypertonia, Dystonia, Self-mutilation |
ORPHA:52503 |
Cardiomyopathy, Familial Hypertrophic, 11 |
|
Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi... |
OMIM:612098 |
Deafness, Autosomal Dominant 80 |
|
Congenital sensorineural hearing impairment, Dilated vestibule of the inner ear, Cochlear aplasia |
OMIM:619274 |
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Incoordination, Tremor, Paraparesis, Sensorineural hearing impairment, Babinski sign, Hand tremor... |
OMIM:302800 |
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia |
|
Microtia, Congenital pyloric atresia |
OMIM:612138 |
Alg11-Cdg |
|
Axial hypotonia, Ataxia, Opisthotonus, Hypertonia, Infantile muscular hypotonia, Limb hypertonia |
ORPHA:280071 |
Cyanide-Induced Parkinsonism-Dystonia |
|
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Falls, Shuffling gait, Short stepped shuffl... |
ORPHA:306692 |
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome |
|
Freezing of gait, Akinesia, Tremor, Rigidity, Unsteady gait, Neuromuscular dysphagia, Spastic dys... |
ORPHA:240094 |
Congenital Sialidosis Type 2 |
|
Abnormal EKG, Hepatomegaly, Ataxia, Optic atrophy, Dysmetria, Telangiectasia, Hepatosplenomegaly,... |
ORPHA:93400 |
Monomelic Amyotrophy |
|
Tremor, Fasciculations |
ORPHA:65684 |
Spinocerebellar Ataxia 47 |
|
Ataxia, Chorea, Dysmetria, Generalized hypotonia, Spasticity |
OMIM:617931 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Hyperactivity, Cryptorchidism, Repetitive compulsive behavior, Compulsive behaviors, Low-set ears... |
ORPHA:352490 |
Muscle Filaminopathy |
|
Left ventricular diastolic dysfunction, Right bundle branch block, Cardiomyopathy, Abnormality of... |
ORPHA:171445 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Resting tremor, Incoordination, Ataxia, Dystonia, Aggressive behavior, Tremor, Paraparesis, Babin... |
OMIM:615157 |
Nasu-Hakola Disease |
|
Oculomotor apraxia, Chorea, Disinhibition, Spasticity |
ORPHA:2770 |
Atrial Tachyarrhythmia With Short Pr Interval |
|
Paroxysmal atrial tachycardia, Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Sho... |
OMIM:108950 |
Kufor-Rakeb Syndrome |
|
Torticollis, Dystonia, Ataxia, Parkinsonism, Aggressive behavior, Tremor, Rigidity, Paraparesis, ... |
OMIM:606693 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Tremor, Babinski sign, Distal sensory impairment, Hypertonia, Steppage gait, Spasticity, Hearing ... |
OMIM:609260 |
Fragile X Syndrome |
|
Macroorchidism, postpubertal, Abnormal head movements, Hyperactivity, Self-biting, Recurrent hand... |
OMIM:300624 |
Hyperlysinemia |
|
Neck hypertonia, Hyperactivity, Poor motor coordination, Spastic tetraparesis, Tremor, Spastic di... |
ORPHA:2203 |
Foxg1 Syndrome |
|
Dystonia, Hypotonia, Choreoathetosis, Hyperkinetic movements, Myoclonus, Bruxism, Spasticity, Abn... |
ORPHA:561854 |
Polyposis of gastric fundus without polyposis coli |
|
Abnormal gastric mucosa morphology, Multiple gastric polyps |
OMIM:175505 |
Sneddon Syndrome |
|
Tremor, Chorea, Hemiparesis |
ORPHA:820 |
Gitelman Syndrome |
|
Prolonged QT interval, Salt craving, Ataxia, Vertigo, Ventricular tachycardia, Paresthesia, Palpi... |
OMIM:263800 |
X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Ataxia, Impaired pain sensation, Tremor, Paraparesis, Gait disturbance, Hearing impairment |
ORPHA:99014 |
Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Tremor, Ataxia, Dysphagia |
OMIM:618637 |
Brugada Syndrome 1 |
|
Atrial flutter, Atrial fibrillation, Cardiac arrest, Supraventricular tachycardia with an accesso... |
OMIM:601144 |
Attrv30M Amyloidosis |
|
Cardiomegaly, Atrioventricular block, Cardiomyopathy, Abnormal autonomic nervous system physiolog... |
ORPHA:85447 |
Atrial Septal Defect, Sinus Venosus Type |
|
Automatic atrial tachycardia, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atria... |
ORPHA:99105 |
Epilepsy, Familial Adult Myoclonic, 3 |
|
Tremor, Myoclonus |
OMIM:613608 |
Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Ataxia, Abnormal eating behavior, Anteverted ears, Tremor, Macrotia, Poor coordination, Obsessive... |
ORPHA:544254 |
Hsd10 Disease |
|
Ataxia, Tremor, Rigidity, Choreoathetosis, Gait disturbance, Myoclonus, Dysphagia, Spastic parapa... |
ORPHA:391417 |
Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Tremor, Rigidity, Neuromuscular dysphagia, Bradykinesia, Dystonia, Parkinsonism with favorable re... |
ORPHA:240085 |
Dpagt1-Cdg |
|
Prolonged QT interval, EEG with generalized slow activity, Ataxia, Akinesia, Aggressive behavior,... |
ORPHA:86309 |
Developmental And Epileptic Encephalopathy 32 |
|
Tremor, Hypotonia, Ataxia, Myoclonus |
OMIM:616366 |
Spinocerebellar Ataxia 42 |
|
Spastic ataxia, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Unsteady gait, Dysphagia,... |
OMIM:616795 |
Developmental And Epileptic Encephalopathy 56 |
|
Broad-based gait, Ataxia, Poor coordination, Attention deficit hyperactivity disorder, Obsessive-... |
OMIM:617665 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Abnormal auditory evoked potentials, Impaired distal proprioception, Decreased nerve conduction v... |
OMIM:601455 |
Waardenburg Syndrome, Type 2E |
|
Aplasia of the semicircular canal, Sensorineural hearing impairment, Hypoplasia of the semicircul... |
OMIM:611584 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2 |
|
Broad-based gait, Ataxia, Tremor, Sensorineural hearing impairment, Dysmetria, Gait ataxia, Dysdi... |
OMIM:610185 |
Spinocerebellar Ataxia, Autosomal Recessive 32 |
|
Torticollis, Somatic sensory dysfunction, Postural tremor, Limb ataxia, Gait ataxia, Bradykinesia... |
OMIM:619862 |
Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Hypertonia, Hypotonia, Tetraplegia, Opisthotonus |
OMIM:619272 |
Dentici-Novelli Neurodevelopmental Syndrome |
|
Precocious puberty, Hypsarrhythmia, Macrotia, Abnormal repetitive mannerisms, Hearing impairment |
OMIM:619877 |
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy |
|
Ataxia, Rigidity, Bradykinesia, Fasciculations, Spasticity |
OMIM:183050 |
Neurodevelopmental Disorder With Spasticity And Poor Growth |
|
Generalized dystonia, Ataxia, Clonus, Axial hypotonia, Babinski sign, Opisthotonus, Limb hyperton... |
OMIM:618076 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Hepatomegaly, Transient ischemic attack, Cardiac arrest, Sudden cardiac ... |
OMIM:115197 |
Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis |
|
Paroxysmal dystonia, Paroxysmal choreoathetosis |
OMIM:602066 |
Complete Atrioventricular Septal Defect |
|
Cardiomegaly, Atrioventricular block, Primum atrial septal defect, Displacement of the papillary ... |
ORPHA:1329 |
Mitochondrial Dna Depletion Syndrome 17 |
|
Chorea, Hemiballismus, Spastic tetraparesis |
OMIM:618567 |
Inherited Creutzfeldt-Jakob Disease |
|
Spastic hemiparesis, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Slurred speech, Gait... |
ORPHA:282166 |
Ocular Motor Apraxia |
|
Oculomotor apraxia, Jerky head movements |
OMIM:257550 |
Parkinson Disease 19A, Juvenile-Onset |
|
Parkinsonism, Rigidity, Abnormal pyramidal sign, Pill-rolling tremor, Bradykinesia, Dystonia, Spa... |
OMIM:615528 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14 |
|
Prolonged QT interval |
OMIM:615351 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Hyperactivity, Hyperthyroidism, Diabetes mellitus, Aggressive behavior, Hypothyroidism, Self-inju... |
ORPHA:449291 |
Infantile Krabbe Disease |
|
Lower limb spasticity, Spastic diplegia, Opisthotonus, Ankle clonus, Myoclonus, Decerebrate rigid... |
ORPHA:206436 |
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Ataxia, Tremor, Babinski sign, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclonus |
OMIM:615362 |
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Lobulated tongue, Abnormal repetitive mannerisms, Low-set ears |
OMIM:613443 |
17Q24.2 Microdeletion Syndrome |
|
Prolonged QT interval, Otosclerosis, Aggressive behavior, Microtia, Recurrent otitis media, Pulmo... |
ORPHA:529962 |
Cardiomyopathy, Familial Hypertrophic, 13 |
|
Atrial fibrillation, Angina pectoris, Concentric hypertrophic cardiomyopathy, Right bundle branch... |
OMIM:613243 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Abnormal EKG, Cardiomegaly, Chorea, Right bundle branch block, Brachial plexus neuropathy, Reduce... |
ORPHA:268 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Generalized dystonia, Ataxia, Chorea, Hypotonia, Generalized hypotonia, Dysphagia, Spasticity |
ORPHA:70472 |
Dystonia 7, Torsion |
|
Torticollis, Writer's cramp, Torsion dystonia, Hand tremor, Clumsiness, Blepharospasm, Oromandibu... |
OMIM:602124 |
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Dystonia, Parkinsonism, Tremor, Rigidity, Head titubation, Hypotonia, Gait ataxia, Choreoathetosi... |
OMIM:618877 |
Intellectual Developmental Disorder, Autosomal Dominant 7 |
|
Hyperactivity, Incoordination, Abnormal pinna morphology, Ataxia, Gait disturbance, Inappropriate... |
OMIM:614104 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Ataxia, Abnormal auditory evoked potentials, Optic atrophy, Gait disturbance, Progressive sensori... |
OMIM:125250 |
Atypical Juvenile Parkinsonism |
|
Resting tremor, Involuntary movements, Akinesia, Rigidity, Inability to walk, Abnormal pyramidal ... |
ORPHA:391411 |
Gm2-Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Axial hypotonia, Spastic tetraparesis, Paralysis, Chorea, Abnormal ... |
OMIM:272750 |
X-Linked Parkinsonism-Spasticity Syndrome |
|
Resting tremor, Babinski sign, Scissor gait, Cogwheel rigidity, Bradykinesia, Ankle clonus, Spast... |
ORPHA:363654 |
Epilepsy, Familial Adult Myoclonic, 1 |
|
Tremor |
OMIM:601068 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Low-set, posteriorly rotated ears, Hyperactivity, Aggressive behavior, Precocious puberty, Crypto... |
ORPHA:3306 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type |
|
Lower limb spasticity, Pain insensitivity, Axial hypotonia, Ataxia, Facial hypotonia, Rigidity, R... |
OMIM:300260 |
Microcephaly, Seizures, And Developmental Delay |
|
Cerebellar atrophy, Hyperactivity, Ataxia |
OMIM:613402 |
Japanese Encephalitis |
|
Weakness due to upper motor neuron dysfunction, Anorexia, Paralysis, Tremor, Opisthotonus, Choreo... |
ORPHA:79139 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type |
|
Parkinsonism, Rigidity, Babinski sign, Slurred speech, Impaired tandem gait, Bradykinesia, Gait d... |
OMIM:300423 |
Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Ataxia, Tremor, Rigidity, Bradykinesia, Generalized hypotonia, Dystonia |
OMIM:617836 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 11 |
|
Torticollis, Ataxia, Babinski sign, Hypotonia, Choreoathetosis, Limb dystonia, Frequent falls |
OMIM:619054 |
Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Incoordination, Ataxia, Tremor, Hypotonia, Dysmetria, Gait ataxia, Limb ataxia, Generalized hypot... |
OMIM:213200 |
Atypical Progressive Supranuclear Palsy Syndrome |
|
Speech apraxia, Freezing of gait, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidit... |
ORPHA:99750 |
Myopathy, Myofibrillar, 1 |
|
Facial palsy, Dilated cardiomyopathy, Third degree atrioventricular block, Bradycardia, Restricti... |
OMIM:601419 |
Spinocerebellar Ataxia, Autosomal Recessive 31 |
|
Optic atrophy, Bruxism, High palate, Bilateral sensorineural hearing impairment, Dysphagia, Self-... |
OMIM:619422 |
Charcot-Marie-Tooth Disease Type 1F |
|
Impaired vibratory sensation, Absent brainstem auditory responses, Somatic sensory dysfunction, R... |
ORPHA:101085 |
Autism, Susceptibility To, 3 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:608049 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Restlessness, Apraxia, Resting tremor, Ataxia, Parkinsonism, Dystonia, Tremor, Babinski sign, Spa... |
OMIM:300055 |
Intellectual Developmental Disorder, X-Linked 111 |
|
Hyperactivity, Aggressive behavior, Corpus callosum atrophy, Unsteady gait, Phonic tics, Hippocam... |
OMIM:301107 |
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Hypotonia, Generalized hypotonia, Opisthotonus |
OMIM:210200 |
Myopathy With Extrapyramidal Signs |
|
Hyperactivity, Ataxia, Clonus, Tremor, Chorea, Hypotonia, Clumsiness, Choreoathetosis, Abnormalit... |
OMIM:615673 |
Severe Intellectual Disability And Progressive Spastic Paraplegia |
|
Facial hypotonia, Babinski sign, Hypotonia, Spastic dysarthria, Dystonia, Spasticity, Abnormal re... |
ORPHA:280763 |
Friedreich Ataxia |
|
Dystonia, Chorea, Babinski sign, Impaired proprioception, Dysmetria, Gait ataxia, Limb ataxia, Po... |
ORPHA:95 |
Spinocerebellar Ataxia, Autosomal Recessive 30 |
|
Ataxia, Tremor, Unsteady gait, Dysmetria, Titubation, Compulsive behaviors |
OMIM:619405 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Cardiac arrest, Sudden cardiac death, Ve... |
OMIM:609040 |
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency |
|
Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Myoclonus, Dystonia, Hearing impa... |
ORPHA:139485 |
Pick Disease Of Brain |
|
Abnormal repetitive mannerisms, Polyphagia, Inappropriate laughter, Disinhibition |
OMIM:172700 |
Fragile X Tremor/Ataxia Syndrome |
|
Resting tremor, Postural tremor, Parkinsonism, Action tremor, Impaired distal vibration sensation... |
OMIM:300623 |
Emery-Dreifuss Muscular Dystrophy 1, X-Linked |
|
Absent P wave, Sudden cardiac death, First degree atrioventricular block, Atrioventricular block,... |
OMIM:310300 |
Oromandibular Dystonia |
|
Limb dystonia, Torticollis, Generalized dystonia, Bruxism, Blepharospasm, Hyperkinetic movements,... |
ORPHA:93958 |
Hsd10 Mitochondrial Disease |
|
Restlessness, Aggressive behavior, Spastic tetraplegia, Hypotonia, Choreoathetosis, Agitation, Ge... |
OMIM:300438 |
Pomt2-Related Limb-Girdle Muscular Dystrophy R14 |
|
Right bundle branch block, Frontal cortical atrophy, Dilated cardiomyopathy, Left ventricular sys... |
ORPHA:206559 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Ataxia, Tremor, Dysmetria, Distal sensory impairment, Gait ataxia, Steppage gait |
OMIM:618387 |
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia |
|
Impaired vibratory sensation, Broad-based gait, Postural tremor, Babinski sign, Dysmetria, Clumsi... |
ORPHA:284324 |
Intellectual Developmental Disorder With Autism And Macrocephaly |
|
Pica, Constipation, Recurrent hand flapping, Posteriorly rotated ears |
OMIM:615032 |
Autoimmune Hypoparathyroidism |
|
Prolonged QT interval, Abnormal left ventricular function, Paresthesia, Laryngeal dystonia, Ventr... |
ORPHA:36913 |
Epilepsy, Progressive Myoclonic, 6 |
|
Ataxia, Tremor, Myoclonus, Difficulty walking, Loss of ambulation |
OMIM:614018 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Dystonia, Tremor, Chorea, Impaired distal vibration sensation, Abnormal pyramidal sign, Impaired ... |
OMIM:606002 |
Nmda Receptor Encephalitis |
|
Involuntary movements, Oculogyric crisis, Rigidity, Hypersexuality, Chorea, Opisthotonus, Choreoa... |
ORPHA:217253 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Prolonged QT interval, Hepatomegaly, Tachycardia, Ventricular septal defect, Pericardial effusion... |
ORPHA:26793 |
Cardiogenic Shock |
|
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... |
ORPHA:97292 |
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant |
|
Sudden cardiac death, First degree atrioventricular block, Dilated cardiomyopathy, Syncope, Reduc... |
OMIM:181350 |
Early-Onset X-Linked Optic Atrophy |
|
Babinski sign, Gait ataxia, Choreoathetosis, Dysdiadochokinesis, Intention tremor |
ORPHA:98890 |
Glycogen Storage Disease Xv |
|
ST segment elevation, Right bundle branch block, Cardiomyocyte hypertrophy, Paroxysmal ventricula... |
OMIM:613507 |
Oculorenocerebellar Syndrome |
|
Choreoathetosis, Spastic diplegia |
OMIM:257970 |
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language |
|
High, narrow palate, Self-injurious behavior, EEG abnormality, Recurrent hand flapping, Macrotia |
OMIM:617268 |
Cri-Du-Chat Syndrome |
|
Overfriendliness, Hyperactivity, Abnormal pinna morphology, Aggressive behavior, Cryptorchidism, ... |
OMIM:123450 |
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome |
|
Broad-based gait, Tremor, Babinski sign, Spastic paraplegia, Low-set ears, Difficulty walking |
ORPHA:477673 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Somatic sensory dysfunction, Tremor, Inability to walk, Distal sensory impairment, Limb fascicula... |
ORPHA:90117 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Cryptorchidism, Macrotia, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:618504 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Prolonged QT interval, Bidirectional ventricular ectopy, Syncope, Palpitations, Low-set ears, Pro... |
OMIM:170390 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Ventricular hypertrophy, Ventricular septal defect, Epistaxis, Intracranial hemorrhage, Hypertens... |
ORPHA:369929 |
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination |
|
Spasticity, Abnormal repetitive mannerisms, Hypotonia |
OMIM:617393 |
Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Hyperactivity, Asymmetry of the ears, Bilateral cryptorchidism, Cryptorchidism, Sensorineural hea... |
OMIM:617796 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Decreased response to growth hormone stimulation test, Self-mutilation, High palate, Macrotia, Ab... |
ORPHA:457240 |
X-Linked Charcot-Marie-Tooth Disease Type 3 |
|
Somatic sensory dysfunction, Tremor, Inability to walk, Gait disturbance, Difficulty walking, Spa... |
ORPHA:101077 |
Leukodystrophy, Hypomyelinating, 6 |
|
Axial hypotonia, Ataxia, Tremor, Rigidity, Hypotonia, Choreoathetosis, Dystonia, Oculomotor aprax... |
OMIM:612438 |
Amyotrophic Lateral Sclerosis 18 |
|
Spasticity, Fasciculations, Dysphagia |
OMIM:614808 |
Urocanic Aciduria |
|
Broad-based gait, Ataxia, Gait ataxia, Truncal ataxia, Action tremor |
ORPHA:210128 |
Friedreich Ataxia |
|
Impaired vibratory sensation, Abnormal EKG, Ataxia, Congestive heart failure, Optic atrophy, Impa... |
OMIM:229300 |
Chromosome 2Q37 Deletion Syndrome |
|
Hyperactivity, Pain insensitivity, Aggressive behavior, Sensorineural hearing impairment, Self-in... |
OMIM:600430 |
Developmental And Epileptic Encephalopathy 30 |
|
Abnormal repetitive mannerisms |
OMIM:616341 |
Spinocerebellar Ataxia 27B, Late-Onset |
|
Vertigo, Postural tremor, Limb ataxia, Gait ataxia |
OMIM:620174 |
Mitochondrial Complex I Deficiency, Nuclear Type 12 |
|
Axial hypotonia, Ataxia, Hypotonia, Choreoathetosis, Myoclonus, Generalized hypotonia, Frequent f... |
OMIM:301020 |
Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment |
|
Pica, EEG abnormality, Constipation, High palate, Low-set ears, Recurrent hand flapping |
OMIM:618480 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Prominent ear helix, Multifocal epileptiform discharges, Hypsarrhythmia, Large earlobe, Abnormal ... |
ORPHA:411986 |
Cardiomyopathy, Dilated, 1G |
|
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A... |
OMIM:604145 |
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Hyperactivity, Sick sinus syndrome, Bradycardia, Attention deficit hyperactivity disorder, Patent... |
OMIM:617182 |
Parkinsonism-Dystonia 2, Infantile-Onset |
|
Incoordination, Ataxia, Parkinsonism, Oculogyric crisis, Axial hypotonia, Tremor, Hypotonia, Dysd... |
OMIM:618049 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Impaired pain sensation, Tremor, Limb ataxia, Distal sensory impairment, Gait ataxia, Paresthesia... |
OMIM:616719 |
Developmental And Epileptic Encephalopathy 67 |
|
Athetosis, Recurrent hand flapping, Gait disturbance, Dystonia |
OMIM:618141 |
Charge Syndrome |
|
Hypoplasia of the semicircular canal, Gastroesophageal reflux, Compulsive behaviors, Low-set, pos... |
ORPHA:138 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2 |
|
Cerebellar atrophy, Ataxia, Atrophy/Degeneration affecting the brainstem, Dysmetria, Right bundle... |
OMIM:616479 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Congestive heart failure, Macrotia, Cardiomegaly |
OMIM:300886 |
Charcot-Marie-Tooth Disease And Deafness |
|
Tremor, Sensorineural hearing impairment, Distal sensory impairment, Steppage gait, Gait disturbance |
OMIM:118300 |
Developmental And Epileptic Encephalopathy 43 |
|
Hyperactivity, Ataxia, Impulsivity, Hypsarrhythmia, Attention deficit hyperactivity disorder |
OMIM:617113 |
Xeroderma Pigmentosum, Complementation Group G |
|
Tremor, Spasticity, Ataxia |
OMIM:278780 |
Cln5 Disease |
|
Cerebellar atrophy, Hyperactivity, Ataxia, EEG with spike-wave complexes, Aggressive behavior, At... |
ORPHA:228360 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Lower limb spasticity, Hyperactivity, Resting tremor, Broad-based gait, Parkinsonism, Anorexia, A... |
ORPHA:3077 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Tremor, Impaired proprioception, Dysmetria, Gait ataxia, Intention tremor, Ataxia, Impaired dista... |
ORPHA:99027 |
Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Hyperactivity, Cardiomegaly, Aggressive behavior, Splenomegaly, Asymmetric septal h... |
OMIM:252920 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Hemiplegia/hemiparesis, Chorea, Hypotonia, Choreoathetosis, Dystonia |
ORPHA:289916 |
Cln3 Disease |
|
Cerebellar atrophy, Ataxia, Aggressive behavior, Optic atrophy, T-wave inversion, Generalized cer... |
ORPHA:228346 |
Obesity, Hyperphagia, And Developmental Delay |
|
Abnormal repetitive mannerisms, Polyphagia |
OMIM:613886 |
Peripartum Cardiomyopathy |
|
Ventricular tachycardia, Left bundle branch block, Right ventricular dilatation, Abnormal T-wave,... |
ORPHA:563 |
Late-Infantile/Juvenile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Lower limb spasticity, Ataxia, Tremor, Neuromuscu... |
ORPHA:206443 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Tremor, Fasciculations, Dysphagia |
OMIM:313200 |
Intellectual Developmental Disorder, Autosomal Recessive 79 |
|
Broad-based gait, Incoordination, Tongue thrusting, Gait ataxia, Intention tremor |
OMIM:620393 |
Leukodystrophy, Hypomyelinating, 4 |
|
Head titubation, Babinski sign, Spastic paraplegia, Hypotonia, Choreoathetosis, Progressive spast... |
OMIM:612233 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Torticollis, Generalized dystonia, Writer's cramp, Tremor, Babinski sign, Torsion dystonia, Hypot... |
OMIM:128100 |
Rett Syndrome, Congenital Variant |
|
Dystonia, Chorea, Tongue thrusting, Bruxism, Athetosis, Generalized hypotonia, Apraxia, Neonatal ... |
OMIM:613454 |
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures |
|
Hyperactivity, Aggressive behavior, Rigidity, Choreoathetosis, Self-injurious behavior, Hypertonia |
OMIM:620023 |
Parkinsonism With Polyneuropathy |
|
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk... |
OMIM:619279 |
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome |
|
Cerebellar atrophy, Hyperactivity, Aggressive behavior, Corpus callosum atrophy, Optic atrophy, B... |
ORPHA:369939 |
Tropical Endomyocardial Fibrosis |
|
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... |
ORPHA:75565 |
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive |
|
Right axis deviation, Elevated jugular venous pressure, Congestive heart failure, Dilated cardiom... |
OMIM:255160 |
22Q11.2 Duplication Syndrome |
|
Cleft palate, Anterior creases of earlobe, Compulsive behaviors, Attention deficit hyperactivity ... |
ORPHA:1727 |
Spinocerebellar Ataxia, Autosomal Recessive 7 |
|
Impaired vibratory sensation, Ataxia, Postural tremor, Truncal titubation, Babinski sign, Unstead... |
OMIM:609270 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F |
|
Tremor, Dysphagia, Distal sensory impairment |
OMIM:607734 |
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta |
|
Axial hypotonia, Ataxia, Involuntary movements, Choreoathetosis, Dystonia, Spasticity, Limb hyper... |
OMIM:615905 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Hepatomegaly, Tachycardia, Ventricular septal defect, Ca... |
ORPHA:860 |
Folinic Acid-Responsive Seizures |
|
Ataxia, Spastic tetraparesis, Chorea, Hypertonia, Dystonia |
ORPHA:79097 |
Dentatorubral Pallidoluysian Atrophy |
|
Ataxia, Involuntary movements, Dyssynergia, Impaired proprioception, Dysmetria, Gait ataxia, Chor... |
ORPHA:101 |
Deafness, X-Linked 2 |
|
Stapes ankylosis, Mixed hearing impairment, Dilatated internal auditory canal, Congenital sensori... |
OMIM:304400 |
Behr Syndrome |
|
Ataxia, Tremor, Babinski sign, Unsteady gait, Truncal ataxia, Dysmetria, Gait disturbance, Progre... |
OMIM:210000 |
Cardiomyopathy, Dilated, 1I |
|
Reduced systolic function, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Reduce... |
OMIM:604765 |
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features |
|
Supernumerary nipple, Gastroesophageal reflux, High palate, Low-set ears, Abnormal repetitive man... |
OMIM:616579 |
Dextrocardia |
|
Abnormal EKG, Dextrocardia, Situs inversus totalis, Abnormal heart morphology, T-wave inversion, ... |
ORPHA:1666 |
Leukodystrophy, Hypomyelinating, 11 |
|
Tremor, Spasticity, Ataxia, Myoclonus |
OMIM:616494 |
Glycogen Storage Disease Ii |
|
Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Subarachnoid hemorrhage, Card... |
OMIM:232300 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Hepatomegaly, Cardiomegaly, Left ventricular outflow tract obstruction, Shortened PR interval, He... |
ORPHA:308552 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Pyloric stenosis, Sensorineural hearing impairment, Cleft palate, Gastroesophageal reflux, Attent... |
ORPHA:261197 |
Spinocerebellar Ataxia 2 |
|
Impaired vibratory sensation, Ataxia, Parkinsonism, Postural tremor, Rigidity, Babinski sign, Hyp... |
OMIM:183090 |
Leukodystrophy, Hypomyelinating, 2 |
|
Dystonia, Ataxia, Axial hypotonia, Rigidity, Head titubation, Babinski sign, Choreoathetosis, Pro... |
OMIM:608804 |
Developmental And Epileptic Encephalopathy 29 |
|
Axial hypotonia, Chorea, Blepharospasm, Limb dystonia, Spasticity |
OMIM:616339 |
Hsd10 Disease, Infantile Type |
|
Restlessness, Diffuse cerebral atrophy, Dystonia, Cardiomegaly, Optic atrophy, Cerebral atrophy, ... |
ORPHA:391428 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Tongue... |
OMIM:601596 |
Ck Syndrome |
|
High palate, Hyperactivity, Posteriorly rotated ears, Aggressive behavior |
ORPHA:251383 |
Lissencephaly Due To Lis1 Mutation |
|
Axial hypotonia, Tetraplegia, Opisthotonus, Progressive spastic quadriplegia, Neonatal hypotonia |
ORPHA:95232 |
Cardiomyopathy, Familial Restrictive, 3 |
|
Abnormal ST segment, Reduced left ventricular ejection fraction, Hypotension, Left axis deviation... |
OMIM:612422 |
48,Xxyy Syndrome |
|
Hypergonadotropic hypogonadism, Cryptorchidism, Cleft palate, Gastroesophageal reflux, Constipati... |
ORPHA:10 |
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome |
|
Spastic ataxia, Impaired distal proprioception, Tremor, Babinski sign, Slurred speech, Impaired v... |
ORPHA:137898 |
Gerstmann-Straussler Disease |
|
Parkinsonism, Aggressive behavior, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Myoc... |
OMIM:137440 |
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Diabetes mellitus, Repetitive compulsive behavior, Abnormality of the ear, EEG abnormality, Const... |
ORPHA:391372 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Hypertonia, Opisthotonus |
ORPHA:3304 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14 |
|
Ventricular tachycardia, Left bundle branch block, Premature ventricular contraction, Right ventr... |
OMIM:618920 |
Coffin-Siris Syndrome 7 |
|
Hyperactivity, Posteriorly rotated ears, Severe temper tantrums, Constipation, Low-set ears, Comp... |
OMIM:618027 |
Wild Type Attr Amyloidosis |
|
Abnormal EKG, Hepatomegaly, Myocardial infarction, Congestive heart failure, Abnormal autonomic n... |
ORPHA:330001 |
Congenital Myopathy 5 With Cardiomyopathy |
|
Sudden cardiac death, Congestive heart failure, Atrioventricular reentrant tachycardia, Dilated c... |
OMIM:611705 |
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Tremor, Tongue fasciculations, Myoclonus, Dysphagia, Frequent falls |
OMIM:159950 |
Parkinson Disease 14, Autosomal Recessive |
|
Eyelid apraxia, Resting tremor, Axial dystonia, Parkinsonism, Upper limb postural tremor, Aggress... |
OMIM:612953 |
Bilateral Generalized Polymicrogyria |
|
Axial hypotonia, Oculogyric crisis, Oral-pharyngeal dysphagia, Spastic tetraplegia, Eyelid myoclo... |
ORPHA:208447 |
Pontocerebellar Hypoplasia, Type 8 |
|
Axial hypotonia, Involuntary movements, Chorea, Hypotonia, Gait ataxia, Hypertonia, Generalized h... |
OMIM:614961 |
Branchiootic Syndrome 1 |
|
Mixed hearing impairment, Dilatated internal auditory canal, Hypoplasia of the cochlea, Cupped ea... |
OMIM:602588 |
Acitretin/Etretinate Embryopathy |
|
Cupped ear, Conotruncal defect, Microtia, Bradycardia, Third degree atrioventricular block, Bilat... |
ORPHA:40366 |
Macrocephaly-Developmental Delay Syndrome |
|
Abnormal speech discrimination, Self-injurious behavior, High palate, Abnormal repetitive manneri... |
ORPHA:397612 |
Neuroectodermal Melanolysosomal Disease |
|
Ataxia, Tremor, Rigidity, Hypotonia, Hypertonia, Spasticity |
ORPHA:33445 |
Trisomy 18P |
|
Abnormal pinna morphology, Facial palsy, Bilateral cryptorchidism, High, narrow palate, Pyloric s... |
ORPHA:1715 |
Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Protruding ear, Macroglossia, Abnormal antihelix morphology, Gastroesophageal reflux, Abnormal re... |
ORPHA:261144 |
Noonan Syndrome |
|
Low-set, posteriorly rotated ears, Hypogonadotropic hypogonadism, Aplasia of the semicircular can... |
ORPHA:648 |
Intellectual Developmental Disorder, X-Linked 30 |
|
Restlessness, Hyperactivity, Aggressive behavior, High palate, Agitation, Macrotia |
OMIM:300558 |
Spastic Paraplegia 29, Autosomal Dominant |
|
Hyperactivity, Sensorineural hearing impairment, Vomiting, Hiatus hernia |
OMIM:609727 |
Distal Renal Tubular Acidosis |
|
Sensorineural hearing impairment, Diarrhea, Vomiting, Constipation, Polydipsia, Enlarged vestibul... |
ORPHA:18 |
Ck Syndrome |
|
High palate, Hyperactivity, Posteriorly rotated ears, Aggressive behavior |
OMIM:300831 |
Refsum Disease, Classic |
|
Somatic sensory dysfunction, Ataxia, Cardiomegaly, Congestive heart failure, Sensorineural hearin... |
OMIM:266500 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Prolonged QT interval, Hepatomegaly, Tachycardia, Atrial fibrillation, Splenomegaly, Bradycardia,... |
OMIM:613327 |
Recessive Mitochondrial Ataxia Syndrome |
|
Impaired vibratory sensation, Ataxia, ST segment elevation, Dysmetria, Gait disturbance, Positive... |
ORPHA:94125 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Absent brainstem auditory responses, Ataxia, Sensorineural hearing impairment, Optic atrophy, Car... |
ORPHA:1215 |
Congenital Myopathy 24 |
|
Cardiomyopathy, Facial palsy, First degree atrioventricular block |
OMIM:617336 |
Wolfram Syndrome |
|
Gastrointestinal hemorrhage, Diabetes mellitus, Malabsorption, Sensorineural hearing impairment, ... |
ORPHA:3463 |
Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity |
|
Lower limb spasticity, Sensorineural hearing impairment, Babinski sign, Abnormal pyramidal sign, ... |
ORPHA:352641 |
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies |
|
Ataxia, Tremor, Inability to walk, Large fleshy ears, Hypertonia, Attention deficit hyperactivity... |
OMIM:619556 |
Naxos Disease |
|
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ... |
OMIM:601214 |
Autosomal Recessive Ataxia Due To Pex10 Deficiency |
|
Abnormal head movements, Abnormal pyramidal sign, Limb ataxia, Progressive cerebellar ataxia, Pro... |
ORPHA:247815 |
Crouzon Syndrome |
|
Optic atrophy, Narrow palate, Conductive hearing impairment, Narrow internal auditory canal, Hear... |
ORPHA:207 |
Abcd Syndrome |
|
Total intestinal aganglionosis, Aganglionic megacolon, Abnormal auditory evoked potentials, Heari... |
OMIM:600501 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis |
|
Opisthotonus |
OMIM:619685 |
D-Glyceric Aciduria |
|
Chorea, Myoclonus, Spasticity, Infantile muscular hypotonia |
ORPHA:941 |
3P25.3 Microdeletion Syndrome |
|
High, narrow palate, Sensorineural hearing impairment, Pyloric stenosis, Abnormal repetitive mann... |
ORPHA:435638 |
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Epistaxis, Intracranial hemorrhage, Hypertension, Paresthesia, Palpitations, Abnormal T-wave, Tin... |
ORPHA:231625 |
Pseudohypoparathyroidism Type 2 |
|
Prolonged QT interval, Laryngeal dystonia, Paresthesia |
ORPHA:94090 |
Optic Atrophy 11 |
|
Decreased sensory nerve conduction velocity, Hyperactivity, Ataxia, Optic nerve hypoplasia, Gait ... |
OMIM:617302 |
Intellectual Developmental Disorder, X-Linked 98 |
|
Hyperactivity, Aggressive behavior, Abnormal repetitive mannerisms, Bulimia, Self-biting, Hypsarr... |
OMIM:300912 |
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Diabetes mellitus, Congenital sensorineural hearing impairment, Sensorineural hearing impairment,... |
ORPHA:500159 |
Radio-Tartaglia Syndrome |
|
Impulsivity, Aggressive behavior, Precocious puberty, High, narrow palate, Large earlobe, High pa... |
OMIM:619312 |
Branchiogenic Deafness Syndrome |
|
Mixed hearing impairment, Abnormal pinna morphology, Abnormality of the middle ear ossicles, Sens... |
ORPHA:50815 |
Intellectual Developmental Disorder, Autosomal Dominant 51 |
|
Unilateral cryptorchidism, Aggressive behavior, Cryptorchidism, Chronic diarrhea, Chronic constip... |
OMIM:617788 |
Congenital-Onset Steinert Myotonic Dystrophy |
|
Bundle branch block, Hyperactivity, First degree atrioventricular block, Abnormal cardiac septum ... |
ORPHA:589821 |
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Hyperactivity, Macrotia, Abnormal repetitive mannerisms, Aggressive behavior |
ORPHA:391307 |
Hemiparkinsonism-Hemiatrophy Syndrome |
|
Parkinsonism, Tremor, Hemiparesis, Bradykinesia, Generalized hypotonia, Dystonia |
ORPHA:306669 |
Spastic Paraplegia 86, Autosomal Recessive |
|
Choreoathetosis, Babinski sign, Spastic paraplegia, Ataxia |
OMIM:619735 |
Congenital Fibrinogen Deficiency |
|
Opisthotonus |
ORPHA:335 |
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome |
|
Chorea, Hyperkinetic movements, Infantile muscular hypotonia, Truncal ataxia |
ORPHA:369847 |
3-Methylglutaconic Aciduria, Type Ix |
|
Clonus, Aggressive behavior, Hypotonia, Choreoathetosis, Hypertonia, Generalized hypotonia, Spast... |
OMIM:617698 |
Clark-Baraitser Syndrome |
|
Hyperactivity, Aggressive behavior, Large earlobe, High palate, Low-set ears |
OMIM:617752 |
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Hyperactivity, Posteriorly rotated ears, Aggressive behavior, Constipation, Compulsive behaviors,... |
OMIM:618430 |
Developmental And Epileptic Encephalopathy 1 |
|
Dystonia, Axial hypotonia, Spastic tetraparesis, Abnormal pyramidal sign, Dysphagia, Choreoatheto... |
OMIM:308350 |
Brunet-Wagner Neurodevelopmental Syndrome |
|
Abnormal repetitive mannerisms, Self-injurious behavior, Optic atrophy |
OMIM:619690 |
Neurodegeneration With Brain Iron Accumulation 5 |
|
Dystonia, Parkinsonism, Aggressive behavior, Tremor, Rigidity, Bradykinesia, Spastic paraparesis |
OMIM:300894 |
Leukodystrophy, Hypomyelinating, 16 |
|
Abnormal pyramidal sign, Hypotonia, Dysmetria, Gait ataxia, Choreoathetosis, Hypertonia, Dystonia... |
OMIM:617964 |
Spinocerebellar Ataxia 6 |
|
Incoordination, Ataxia, Vertigo, Slurred speech, Truncal ataxia, Dysmetria, Progressive cerebella... |
OMIM:183086 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type |
|
Hyperactivity, Gastroesophageal reflux, Bruxism |
OMIM:300434 |
Isolated Right Ventricular Hypoplasia |
|
Tricuspid regurgitation, Abnormal atrioventricular conduction, Right ventricular failure, Cardiom... |
ORPHA:439 |
Rubinstein-Taybi Syndrome 2 |
|
Hyperactivity, Posteriorly rotated ears, Intestinal malrotation, Narrow palate, High palate, Post... |
OMIM:613684 |
Parkinson Disease 21 |
|
Tremor, Rigidity, Parkinsonism, Bradykinesia |
OMIM:616361 |
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Cerebral palsy, Hypotonia, Generalized hypotonia, Opisthotonus |
OMIM:210210 |
Birk-Aharoni Syndrome |
|
Chorea, Axial hypotonia, Spastic tetraplegia |
OMIM:620071 |
Anemia, Sideroblastic, And Spinocerebellar Ataxia |
|
Clonus, Babinski sign, Dysmetria, Dysdiadochokinesis, Nonprogressive cerebellar ataxia, Intention... |
OMIM:301310 |
Desminopathy |
|
Supraventricular arrhythmia, Sudden cardiac death, Congestive heart failure, Atrioventricular blo... |
ORPHA:98909 |
Danon Disease |
|
Wolff-Parkinson-White syndrome, Myocardial necrosis, Cardiomegaly, Congestive heart failure, Dila... |
OMIM:300257 |
Ethylene Glycol Poisoning |
|
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Ataxia, Facial palsy, Congestive ... |
ORPHA:31826 |
Spinocerebellar Ataxia 15 |
|
Postural tremor, Limb ataxia, Gait ataxia, Truncal ataxia, Action tremor |
OMIM:606658 |
Intellectual Developmental Disorder, Autosomal Recessive 61 |
|
Hyperactivity, Posteriorly rotated ears, Aggressive behavior, Hypsarrhythmia, EEG abnormality, Hi... |
OMIM:617773 |
Bor Syndrome |
|
Facial palsy, Abnormality of the middle ear ossicles, External ear malformation, Hypoplasia of th... |
ORPHA:107 |
4Q21 Microdeletion Syndrome |
|
Self-injurious behavior, Abnormal repetitive mannerisms, Low-set ears, Hearing impairment |
ORPHA:238750 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder, Continuous spike and waves ... |
OMIM:301008 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Somatic sensory dysfunction, Dystonia, Ataxia, Postural tremor, Babinski sign, Abnormal pyramidal... |
ORPHA:64753 |
Cocaine Intoxication |
|
Prolonged QT interval, Tachycardia, Prolonged QRS complex, Myocardial infarction, Diffuse alveola... |
ORPHA:90068 |
Choreoacanthocytosis |
|
Self-mutilation of tongue and lips due to involuntary movements, Dystonia, Parkinsonism, Aggressi... |
OMIM:200150 |
Microtriplication 11Q24.1 |
|
Attached earlobe, Posteriorly rotated ears, Cleft palate, Bruxism, Hearing impairment |
ORPHA:289522 |
Drug-Induced Lupus Erythematosus |
|
Pericardial effusion, Pericarditis, Prolonged QTc interval |
ORPHA:231111 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Aggressive behavior, Chronic constipation, Self-injurious behavior, High palate, Compulsive behav... |
OMIM:617061 |
Cardiomyopathy, Dilated, 1A |
|
Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, P... |
OMIM:115200 |
Cardiomyopathy, Familial Hypertrophic, 2 |
|
Atrial fibrillation, Angina pectoris, Ventricular septal hypertrophy, Right bundle branch block, ... |
OMIM:115195 |
Crisponi/Cold-Induced Sweating Syndrome 1 |
|
Opisthotonus |
OMIM:272430 |
Snijders Blok-Campeau Syndrome |
|
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, High palate, Low-set ears |
OMIM:618205 |
Glut1 Deficiency Syndrome 2 |
|
Tremor, Ataxia, Choreoathetosis, Dystonia |
OMIM:612126 |
Coenzyme Q10 Deficiency, Primary, 4 |
|
Axial hypotonia, Ataxia, Tremor, Abnormal pyramidal sign, Hypotonia, Myoclonus |
OMIM:612016 |
Developmental And Epileptic Encephalopathy 46 |
|
Tremor, Axial hypotonia, Dysphagia, Limb hypertonia |
OMIM:617162 |
Progressive Familial Heart Block, Type Ii |
|
Sudden cardiac death, Atrioventricular block, Complete heart block with narrow QRS complexes, Sin... |
OMIM:140400 |
Kleefstra Syndrome 1 |
|
Abnormal pinna morphology, Protruding tongue, Aggressive behavior, Cryptorchidism, Macroglossia, ... |
OMIM:610253 |
External Auditory Canal, Bilateral Atresia Of, With Congenital Vertical Talus |
|
Conductive hearing impairment, Pyloric stenosis, Atresia of the external auditory canal |
OMIM:133705 |
Al Amyloidosis |
|
Gastrointestinal hemorrhage, Abnormal EKG, Hepatomegaly, Abnormal cardiac ventricle morphology, J... |
ORPHA:85443 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2 |
|
Right bundle branch block |
OMIM:613158 |
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter |
|
Broad-based gait, Gait ataxia, Prominent antihelix, Difficulty walking, Dystonia, Spasticity, Abn... |
OMIM:617807 |
Steinert Myotonic Dystrophy |
|
Atrial fibrillation, Prolonged QRS complex, Left ventricular systolic dysfunction, Cardiac conduc... |
ORPHA:273 |
Spinocerebellar Ataxia 21 |
|
Ataxia, Parkinsonism, Postural tremor, Aggressive behavior, Impulsivity, Limb ataxia, Gait ataxia... |
OMIM:607454 |
Chromosome 5P13 Duplication Syndrome |
|
Posteriorly rotated ears, Self-injurious behavior, High palate, Compulsive behaviors, Low-set ear... |
OMIM:613174 |
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures |
|
Tremor, Ataxia, Gait ataxia |
OMIM:617831 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Hyperactivity, Sensorineural hearing impairment, Low-set ears, Recurrent otitis media, Abnormal r... |
OMIM:617751 |
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency |
|
Cerebral palsy, Axial hypotonia, Oculogyric crisis, Tremor, Rigidity, Bradykinesia, Dystonia, Lim... |
ORPHA:70594 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Supernumerary nipple, Aggressive behavior, Pyloric stenosis, Submucous cleft hard palate, Chronic... |
ORPHA:457279 |
Metachromatic Leukodystrophy |
|
Bowel incontinence, Abnormal stomach morphology, Decreased nerve conduction velocity, Abnormal ga... |
ORPHA:512 |
Congenital Heart Defects, Multiple Types, 9 |
|
Mitral atresia, Left axis deviation, Double outlet right ventricle, Single ventricle of indetermi... |
OMIM:620294 |
Peroxisome Biogenesis Disorder 5B |
|
Ataxia, Tremor, Sensorineural hearing impairment, Unsteady gait, Dysmetria, Oculomotor apraxia |
OMIM:614867 |
Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Ataxia, Tremor, Inability to walk, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Dysdiadochoki... |
OMIM:614831 |
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome |
|
Sensorineural hearing impairment, Babinski sign, Vestibular areflexia, Dysmetria, Gait ataxia, Pr... |
ORPHA:504476 |
Alazami Syndrome |
|
Abnormal eating behavior, Low-set ears, Abnormal repetitive mannerisms, Self-mutilation, Stereoty... |
ORPHA:319671 |
Pseudohypoparathyroidism Type 1A |
|
Prolonged QT interval, Sensorineural hearing impairment, Choreoathetosis, Hypertension, Paresthes... |
ORPHA:79443 |
Sulfite Oxidase Deficiency, Isolated |
|
Generalized dystonia, Ataxia, Axial hypotonia, Choreoathetosis, Hypertonia, Agitation, Generalize... |
OMIM:272300 |
Fabry Disease |
|
Conjunctival telangiectasia, Bundle branch block, Anorexia, Atrioventricular block, Vertigo, Muco... |
ORPHA:324 |
Noonan Syndrome With Multiple Lentigines |
|
Low-set, posteriorly rotated ears, Bundle branch block, Abnormal endocardium morphology, Abnormal... |
ORPHA:500 |
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome |
|
Axial hypotonia, Involuntary movements, Dysphagia, Spasticity, Abnormal repetitive mannerisms |
ORPHA:572013 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type |
|
Hyperactivity, Aggressive behavior, Precocious puberty, Cleft palate, Bifid uvula, Hearing impair... |
OMIM:300958 |
2Q37 Microdeletion Syndrome |
|
Supernumerary nipple, Pyloric stenosis, Compulsive behaviors, Attention deficit hyperactivity dis... |
ORPHA:1001 |
Oculogastrointestinal Muscular Dystrophy |
|
Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Intestinal pseudo-... |
ORPHA:1876 |
Oculopharyngodistal Myopathy 3 |
|
Ataxia, Tremor, Sensorineural hearing impairment, Dysphagia, Conductive hearing impairment |
OMIM:619473 |
Atrial Septal Defect, Ostium Secundum Type |
|
Bundle branch block, First degree atrioventricular block, Abnormal left ventricular function, Rig... |
ORPHA:99103 |
Metachromatic Leukodystrophy |
|
Ataxia, Chorea, Babinski sign, Spastic tetraplegia, Tetraplegia, Hypotonia, Generalized hypotonia... |
OMIM:250100 |
Microcephalic Primordial Dwarfism, Montreal Type |
|
Low-set, posteriorly rotated ears, Cryptorchidism, Congenital pyloric atresia, EEG abnormality |
ORPHA:2617 |
Kearns-Sayre Syndrome |
|
Ataxia, Sensorineural hearing impairment, Cardiomyopathy, Third degree atrioventricular block, Ar... |
OMIM:530000 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4 |
|
Large earlobe, Cleft palate, Bruxism |
OMIM:615716 |
Ritscher-Schinzel Syndrome 4 |
|
Ataxia, Impulsivity, Aggressive behavior, Chorea, Hypotonia, Athetosis, Dysphagia, Abnormal repet... |
OMIM:619435 |
Glutaryl-Coa Dehydrogenase Deficiency |
|
Limb dystonia, Dystonia, Poor motor coordination, Ataxia, Severe muscular hypotonia, Tremor, Rigi... |
ORPHA:25 |
Optic Atrophy-Intellectual Disability Syndrome |
|
Optic nerve hypoplasia, Repetitive compulsive behavior, Optic atrophy, Protruding ear, Abnormal h... |
ORPHA:401777 |
Intellectual Developmental Disorder, X-Linked 107 |
|
Hyperactivity, Aggressive behavior, Prominent crus of helix, Attention deficit hyperactivity diso... |
OMIM:301013 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 |
|
Right ventricular dilatation, Ventricular tachycardia, First degree atrioventricular block, Left ... |
OMIM:615616 |
Scapuloperoneal Myopathy, X-Linked Dominant |
|
Right bundle branch block |
OMIM:300695 |
Brain Dopamine-Serotonin Vesicular Transport Disease |
|
Dystonia, Abnormality of coordination, Ataxia, Parkinsonism, Spastic tetraparesis, Tremor, Oculog... |
ORPHA:352649 |
Molybdenum Cofactor Deficiency, Complementation Group B |
|
Hypotonia, Spastic tetraplegia, Opisthotonus, Hypertonia, Myoclonic spasms |
OMIM:252160 |
Classic Progressive Supranuclear Palsy Syndrome |
|
Axial dystonia, Parkinsonism, Impulsivity, Akinesia, Tremor, Neuromuscular dysphagia, Abnormal py... |
ORPHA:240071 |
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome |
|
Precocious puberty, Hyperactivity, Aggressive behavior, Hearing impairment |
ORPHA:457260 |
Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Posteriorly rotated ears, Cryptorchidism, Gastroesophageal reflux, Low-set ears, Attention defici... |
OMIM:619293 |
Hijazi-Reis Syndrome |
|
Ankle clonus, Lower limb spasticity, Abnormal repetitive mannerisms, Hypotonia |
OMIM:301094 |
Spinocerebellar Ataxia Type 18 |
|
Somatic sensory dysfunction, Dysmetria, Gait ataxia, Titubation, Head tremor, Hearing impairment |
ORPHA:98771 |
Smith-Magenis Syndrome |
|
Precocious puberty, Hypothyroidism, Cleft palate, EEG abnormality, Self-injurious behavior, Const... |
ORPHA:819 |
Pelizaeus-Merzbacher Disease |
|
Broad-based gait, Generalized dystonia, Ataxia, Writer's cramp, Dystonia, Head titubation, Tremor... |
OMIM:312080 |
Hartnup Disorder |
|
Episodic ataxia, Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:234500 |
X-Linked Intellectual Disability, Cantagrel Type |
|
Neonatal hypotonia, Abnormal repetitive mannerisms, Tetraparesis |
ORPHA:85277 |
Salt And Pepper Developmental Regression Syndrome |
|
Choreoathetosis, Hypotonia, Myoclonus |
OMIM:609056 |
Neurooculocardiogenitourinary Syndrome |
|
Tricuspid regurgitation, Ventricular septal defect, Cardiomegaly, Sensorineural hearing impairmen... |
OMIM:618652 |
Dystonia 26, Myoclonic |
|
Torticollis, Blepharospasm, Myoclonus, Dystonia, Laryngeal dystonia |
OMIM:616398 |
Reynolds Syndrome |
|
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Xerostomia, Dysphagia |
ORPHA:779 |
Developmental And Epileptic Encephalopathy 42 |
|
Ataxia, Tremor, Athetosis, Hypertonia, Generalized hypotonia |
OMIM:617106 |
Developmental And Speech Delay Due To Sox5 Deficiency |
|
Exaggerated median tongue furrow, Aggressive behavior, Optic atrophy, Narrow palate, Self-injurio... |
ORPHA:313892 |
Intellectual Developmental Disorder, X-Linked 21 |
|
Macroorchidism, Hyperactivity, Impulsivity, Uplifted earlobe |
OMIM:300143 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Recurrent otitis media, Hyperactivity, Inflexible adherence to routines |
OMIM:301076 |
Pitt-Hopkins-Like Syndrome 1 |
|
Hyperactivity, Ataxia, Aggressive behavior, Attention deficit hyperactivity disorder, Generalized... |
OMIM:610042 |
Thyrotoxic Periodic Paralysis |
|
Prolonged QT interval, Tremor, Shortened PR interval, Obesity, Weight loss, Impaired myocardial c... |
ORPHA:79102 |
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome |
|
Bilateral cryptorchidism, Pyloric stenosis, High palate, Low-set ears, Macrotia |
ORPHA:314575 |
Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
Tremor, Inability to walk, Dysmetria, Gait ataxia, Apraxia, Spasticity |
OMIM:617810 |
Aceruloplasminemia |
|
Torticollis, Ataxia, Parkinsonism, Involuntary movements, Tremor, Rigidity, Chorea, Limb ataxia, ... |
ORPHA:48818 |
Ogden Syndrome |
|
Abnormal head movements, Torticollis, Ventricular septal defect, Cerebral atrophy, Low-set ears, ... |
ORPHA:276432 |
Parkinson Disease 18, Autosomal Dominant, Susceptibility To |
|
Rigidity, Resting tremor, Bradykinesia, Parkinsonism |
OMIM:614251 |
Molybdenum Cofactor Deficiency, Complementation Group A |
|
Spastic tetraparesis, Spastic tetraplegia, Opisthotonus, Abnormal muscle tone, Myoclonic spasms |
OMIM:252150 |
Cardiomyopathy, Dilated, 1Oo |
|
Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre... |
OMIM:620247 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Axial hypotonia, Hypotonia, Opisthotonus, Hypertonia, Generalized hypotonia, Infantile axial hypo... |
ORPHA:508533 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Exaggerated startle response, Axial hypotonia, Oculogyric crisis, Babinski sign, Ton... |
OMIM:608643 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Intellectual Developmental Disorder, Autosomal Dominant 34 |
|
Abnormal repetitive mannerisms, Bruxism, Hearing impairment |
OMIM:616351 |
Mucopolysaccharidosis Type 3 |
|
Cardiomegaly, Atrioventricular block, Otitis media, Thickened helices, Conductive hearing impairm... |
ORPHA:581 |
Myotonic Dystrophy 1 |
|
Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Cerebral atrophy, Facia... |
OMIM:160900 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh |
|
Impaired temperature sensation, Tremor, Impaired pain sensation, Impaired distal vibration sensat... |
OMIM:619574 |
Landau-Kleffner Syndrome |
|
Interictal EEG abnormality, Hyperactivity, EEG with frontal focal spikes, Impulsivity, Aggressive... |
ORPHA:98818 |
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Dystonia, Ataxia, Postural tremor, Tremor, Babinski sign, Dysmetria, Dysphagia, Loss of ambulatio... |
OMIM:607694 |
Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Low-set, posteriorly rotated ears, Synotia, Microglossia, Narrow internal auditory canal, Abnorma... |
ORPHA:990 |
Kleefstra Syndrome |
|
Supernumerary nipple, Bowel incontinence, Aggressive behavior, Cryptorchidism, Pyloric stenosis, ... |
ORPHA:261494 |
Intellectual Disability, Birk-Barel Type |
|
High, narrow palate, Hyperactivity, Dysphagia, Protruding ear |
ORPHA:166108 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Intestinal pseudo-obstruction, Intestinal malrotation, Pyloric stenosis, Vomiting, Low-set ears, ... |
OMIM:300048 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Generalized dystonia, Ataxia, Axial hypotonia, Aggressive behavior, Chorea, Spastic tetraplegia, ... |
OMIM:618321 |
Brain-Lung-Thyroid Syndrome |
|
Hyperactivity, Incoordination, Ataxia, Involuntary movements, Dystonia, Abnormal eating behavior,... |
ORPHA:209905 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Cryptorchidism, Submucous cleft hard palate, Head-banging, Low-set ears, Attention deficit hypera... |
OMIM:619103 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Cerebellar atrophy, Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventric... |
OMIM:620066 |
Congenital Aortic Valve Stenosis |
|
Angina pectoris, Sudden cardiac death, Aortic valve calcification, Aortic valve atresia, Increase... |
ORPHA:3093 |
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies |
|
Recurrent otitis media, Hyperactivity, Decreased response to growth hormone stimulation test, Agg... |
OMIM:615286 |
Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
|
Ataxia, Poor motor coordination, Tremor, Hypotonia, Dysmetria, Gait ataxia, Oculomotor apraxia, S... |
ORPHA:1170 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Prolonged QRS complex, Left axis deviation, Cardiomegaly, Congestive heart failure, ST segment el... |
OMIM:261740 |
Mohr-Tranebjaerg Syndrome |
|
Tremor, Spasticity, Dystonia, Dysphagia |
OMIM:304700 |
Mitochondrial Complex I Deficiency, Nuclear Type 16 |
|
Spastic tetraplegia, Choreoathetosis, Generalized hypotonia, Dystonia, Spasticity |
OMIM:618238 |
Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Right bundle branch block, Bilateral facial palsy, Dysphagia |
ORPHA:254361 |
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome |
|
Tremor |
ORPHA:66633 |
Charge Syndrome |
|
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Parathyroid hypop... |
OMIM:214800 |
Trisomy X |
|
Tremor, Hypotonia, Attention deficit hyperactivity disorder |
ORPHA:3375 |
Nipah Virus Disease |
|
Tremor, Myoclonus, Anorexia |
ORPHA:99825 |
Generalized Epilepsy With Febrile Seizures-Plus |
|
Incoordination, Ataxia, Tremor, Hypotonia, Poor fine motor coordination, Bradykinesia, Obsessive-... |
ORPHA:36387 |
Alternating Hemiplegia Of Childhood |
|
Dystonia, Ataxia, Facial hypotonia, Anorexia, Oral-pharyngeal dysphagia, Tremor, Rigidity, Chorea... |
ORPHA:2131 |
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Oculogyric crisis, Tremor, Inability to walk, Difficulty walking, Dystonia |
ORPHA:330050 |
White-Sutton Syndrome |
|
Hyperactivity, Posteriorly rotated ears, Optic nerve hypoplasia, Aggressive behavior, Abnormal re... |
OMIM:616364 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Apraxi... |
OMIM:620141 |
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism |
|
Resting tremor, Postural tremor, Parkinsonism, Akinesia, Rigidity, Clumsiness, Bradykinesia, Dyst... |
OMIM:619911 |
Spinocerebellar Ataxia Type 21 |
|
Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor... |
ORPHA:98773 |
Megalocornea-Intellectual Disability Syndrome |
|
Hypothyroidism, Sensorineural hearing impairment, Protruding ear, EEG abnormality, High palate, A... |
ORPHA:2479 |
Leukodystrophy, Hypomyelinating, 13 |
|
Prolonged brainstem auditory evoked potentials, Exaggerated startle response, Ataxia, Optic atrop... |
OMIM:616881 |
Crigler-Najjar Syndrome Type 1 |
|
Tremor, Infantile muscular hypotonia |
ORPHA:79234 |
Intellectual Developmental Disorder, Autosomal Dominant 22 |
|
Abnormal pinna morphology, Gastroesophageal reflux, Low-set ears, Bruxism, Stereotypical hand wri... |
OMIM:612337 |
Spinocerebellar Ataxia With Epilepsy |
|
Tremor, Dysmetria, Gait ataxia, Progressive cerebellar ataxia, Dysdiadochokinesis, Myoclonus, Dys... |
ORPHA:254881 |
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Exaggerated startle response, Chorea, Spastic tetraplegia, Hypertonia, Neonatal hypotonia, Spasti... |
OMIM:617864 |
Spastic Paraplegia 9B, Autosomal Recessive |
|
Tremor, Babinski sign, Spastic paraplegia, Impaired distal vibration sensation, Tetraplegia, Pseu... |
OMIM:616586 |
Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Self-injurious behavior, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms... |
OMIM:617044 |
Gaucher Disease, Perinatal Lethal |
|
Dysphagia, Opisthotonus |
OMIM:608013 |
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Ataxia, Repetitive compulsive behavior, Chorea, Self-biting, Choreoathetosis, Hyperkinetic moveme... |
ORPHA:522077 |
Alpha-Methylacyl-Coa Racemase Deficiency |
|
Ataxia, Tremor, Hemiparesis, Spasticity, Intention tremor |
OMIM:614307 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hyperactivity, Ataxia, Poor motor coordination, Tremor, Abnormal pyramidal sign, Gait ataxia, Myo... |
ORPHA:363400 |
Parkinson Disease 20, Early-Onset |
|
Eyelid apraxia, Dystonia, Involuntary movements, Parkinsonism, Tremor, Rigidity, Bradykinesia, Ga... |
OMIM:615530 |
Distal Xq28 Microduplication Syndrome |
|
Impulsivity, Aggressive behavior, Self-biting, Microtia, High palate, Stereotypical body rocking,... |
ORPHA:293939 |
White-Sutton Syndrome |
|
Abnormality of the gastrointestinal tract, Hyperactivity, Posteriorly rotated ears, Aggressive be... |
ORPHA:468678 |
Intellectual Developmental Disorder, Autosomal Dominant 43 |
|
Attached earlobe, Hyperactivity, Impulsivity, Aggressive behavior, Chronic constipation, Microtia... |
OMIM:616977 |
Sporadic Adult-Onset Ataxia Of Unknown Etiology |
|
Resting tremor, Ataxia, Parkinsonism, Akinesia, Rigidity, Babinski sign, Gait ataxia, Dysdiadocho... |
ORPHA:247234 |
Non-Specific Early-Onset Epileptic Encephalopathy |
|
Abnormality of coordination, Ataxia, Involuntary movements, Impulsivity, Tremor, Rigidity, Myoclo... |
ORPHA:442835 |
Systemic Lupus Erythematosus 17 |
|
Chorea |
OMIM:301080 |
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Optic disc pallor, High palate, Abnormal auditory evoked potentials |
OMIM:617523 |
Wolfram Syndrome 2 |
|
Diabetes mellitus, Optic neuropathy, Sensorineural hearing impairment, Optic atrophy, Gastric ulcer |
OMIM:604928 |
Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Chorea |
OMIM:616744 |
4H Leukodystrophy |
|
Dystonia, Ataxia, Tremor, Dysmetria, Progressive gait ataxia, Dysdiadochokinesis, Abnormality of ... |
ORPHA:289494 |
Late-Onset Distal Myopathy, Markesbery-Griggs Type |
|
Heart block, Cardiomyopathy, Abnormal left ventricular function |
ORPHA:98912 |
Autosomal Dominant Dopa-Responsive Dystonia |
|
Torticollis, Generalized dystonia, Ataxia, Parkinsonism, Postural tremor, Rigidity, Babinski sign... |
ORPHA:98808 |
Muscular Dystrophy, Duchenne Type |
|
Abnormal EKG, Congestive heart failure, Dilated cardiomyopathy, Cardiomyopathy, Arrhythmia |
OMIM:310200 |
Exercise-Induced Malignant Hyperthermia |
|
Prolonged QT interval, Ataxia, Vertigo, ST segment depression, Hypotension, Abnormal T-wave, Abno... |
ORPHA:466650 |
Shukla-Vernon Syndrome |
|
Broad-based gait, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Abn... |
OMIM:301029 |
Gorham-Stout Disease |
|
Abnormality of the internal auditory canal, Hearing impairment |
ORPHA:73 |
Nk-Cell Enteropathy |
|
Colonic diverticula, Duodenal ulcer, Abnormal gastric mucosa morphology, Diarrhea, Hematochezia, ... |
ORPHA:263665 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type |
|
Hyperactivity, Cryptorchidism, Macrotia, Abnormal repetitive mannerisms, Self-mutilation |
OMIM:300486 |
Neuronal Intranuclear Inclusion Disease |
|
Somatic sensory dysfunction, Ataxia, Tremor, Rigidity, Gait disturbance |
OMIM:603472 |
Cardiospondylocarpofacial Syndrome |
|
Decreased testicular size, Posteriorly rotated ears, Gastroparesis, Congenital sensorineural hear... |
OMIM:157800 |
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Broad-based gait, Cupped ear, Limb ataxia, Self-injurious behavior, Low-set ears, Truncal ataxia,... |
OMIM:617101 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a... |
ORPHA:300751 |
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects |
|
Cerebellar atrophy, Tricuspid regurgitation, Ataxia, Optic atrophy, Dysmetria, Right bundle branc... |
OMIM:619576 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear... |
ORPHA:216694 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Atrial flutter, Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Abnormal atriove... |
ORPHA:324410 |
Rauch-Steindl Syndrome |
|
Attached earlobe, Hyperactivity, Aggressive behavior, Prominent crus of helix, Protruding ear, Ch... |
OMIM:619695 |
Neurodevelopmental Disorder With Variable Motor And Language Impairment |
|
Dystonia, Ataxia, Involuntary movements, Chorea, Hypotonia, Bruxism, Stereotypical hand wringing |
OMIM:617804 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Prolonged QT interval, Hypertrophic cardiomyopathy, Dilated cardiomyopathy |
ORPHA:71212 |
Ebstein Malformation Of The Tricuspid Valve |
|
Abnormal endocardium morphology, Atrial fibrillation, Sudden cardiac death, Congestive heart fail... |
ORPHA:1880 |
19P13.3 Microduplication Syndrome |
|
Hyperactivity, Posteriorly rotated ears, Unilateral cryptorchidism, Precocious puberty, Cleft pal... |
ORPHA:447980 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Impulsivity, Aggressive behavior, Cupped ear, Self-injurious behavior, Abnormal repetitive manner... |
OMIM:618914 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Overfriendliness, Hyperactivity, Restlessness, Aggressive behavior, Cryptorchidism, Multifocal ep... |
ORPHA:369891 |
Lennox-Gastaut Syndrome |
|
Hyperactivity, Aggressive behavior, EEG abnormality, Falls, EEG with focal sharp slow waves |
ORPHA:2382 |
Cardiac Diverticulum |
|
Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Atrial septal defect, P... |
ORPHA:1686 |
Riboflavin Transporter Deficiency |
|
Ataxia, Aggressive behavior, Tremor, Progressive hearing impairment, Myoclonus, Dysphagia |
ORPHA:97229 |
Multiple System Atrophy, Cerebellar Type |
|
Axial dystonia, Resting tremor, Broad-based gait, Postural tremor, Parkinsonism, Rigidity, Neurom... |
ORPHA:227510 |
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome |
|
Diarrhea, Macrotia, Gastritis |
ORPHA:2575 |
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression |
|
Ataxia, Choreoathetosis, Generalized hypotonia, Dystonia, Frequent falls |
OMIM:618416 |
Dopamine Beta-Hydroxylase Deficiency |
|
Abnormal EKG, Orthostatic hypotension, Vertigo, Syncope, Orthostatic syncope |
ORPHA:230 |
16P12.1P12.3 Triplication Syndrome |
|
Nail-biting, Tachycardia, Hyperactivity, Abnormal heart morphology, Large earlobe, Abnormal tricu... |
ORPHA:485405 |
Den Hoed-De Boer-Voisin Syndrome |
|
Lactose intolerance, EEG with focal spike waves, Posteriorly rotated ears, Multifocal epileptifor... |
OMIM:619229 |
Succinic Semialdehyde Dehydrogenase Deficiency |
|
Cerebellar atrophy, Hyperactivity, Ataxia, Aggressive behavior, Self-injurious behavior, EEG abno... |
OMIM:271980 |
Coffin-Siris Syndrome 2 |
|
Hyperactivity, Abnormal pinna morphology, Cryptorchidism, Cleft palate, Macroglossia, High palate... |
OMIM:614607 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Hyperactivity, Abnormal pinna morphology, Aggressive behavior, Cryptorchidism, Macroglossia, Hypo... |
OMIM:300354 |
Cerebral Amyloid Angiopathy, Itm2B-Related, 1 |
|
Tremor, Spasticity, Hypertonia, Rigidity |
OMIM:176500 |
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy |
|
Paroxysmal dystonia, Abnormal repetitive mannerisms, Involuntary movements, Attention deficit hyp... |
ORPHA:98784 |
Primary Progressive Freezing Gait |
|
Restless legs, Postural tremor, Clonus, Rigidity, Babinski sign, Bradykinesia, Gait imbalance, Sh... |
ORPHA:75567 |
Chromosome 15Q11.2 Deletion Syndrome |
|
Cleft palate, Compulsive behaviors, Attention deficit hyperactivity disorder, Macrotia, Abnormal ... |
OMIM:615656 |
Metachromatic Leukodystrophy, Adult Form |
|
Chorea, Babinski sign, Clumsiness, Progressive spastic quadriplegia, Progressive gait ataxia, Dec... |
ORPHA:309271 |
Mitochondrial Complex I Deficiency, Nuclear Type 26 |
|
Choreoathetosis, Dystonia, Dysphagia, Limb hypertonia |
OMIM:618247 |
Phelan-Mcdermid Syndrome |
|
Aggressive behavior, Abnormal repetitive mannerisms, Tongue thrusting, Protruding ear, Gastroesop... |
OMIM:606232 |
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities |
|
Hyperactivity, Posteriorly rotated ears, Cleft palate, Microtia, Low-set ears, Bifid uvula |
OMIM:618089 |
Perry Syndrome |
|
Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia, Inappropriate behavior, Disinhibition, Dy... |
OMIM:168605 |
Jeavons Syndrome |
|
Abnormal head movements, EEG with spike-wave complexes, EEG with generalized polyspikes, EEG with... |
ORPHA:139431 |
Congenital Cataracts, Facial Dysmorphism, And Neuropathy |
|
Chorea, Babinski sign, Ataxia |
OMIM:604168 |
Ataxia With Vitamin E Deficiency |
|
Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetria, Dysdiadochokinesis, H... |
ORPHA:96 |
Hydroxykynureninuria |
|
Congenital sensorineural hearing impairment, Tachycardia, Abnormal repetitive mannerisms, Hypoten... |
ORPHA:79155 |
Mcleod Syndrome |
|
Chorea, Dystonia, Compulsive behaviors, Impaired vibration sensation at ankles |
OMIM:300842 |
2Q23.1 Microdeletion Syndrome |
|
Hyperactivity, Ataxia, Polyphagia, Hypotonia, Self-injurious behavior, Abnormal repetitive manner... |
ORPHA:228402 |
Adult-Onset Cervical Dystonia, Dyt23 Type |
|
Axial dystonia, Torticollis, Writer's cramp, Limb tremor, Focal dystonia, Myoclonus, Head tremor,... |
ORPHA:420492 |
Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Hyperactivity, Gastroesophageal reflux, Compulsive behaviors, Attention deficit hyperactivity dis... |
OMIM:619927 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Hyperactivity, Broad-based gait, Ataxia, Obesity, EEG abnormality, Inappropriate laughter, Polyph... |
ORPHA:411515 |
Dubin-Johnson Syndrome |
|
Abnormal gastric mucosa morphology |
ORPHA:234 |
Syndromic Recessive X-Linked Ichthyosis |
|
Abnormal stomach morphology, Cryptorchidism, Hypogonadism, Attention deficit hyperactivity disord... |
ORPHA:281090 |
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult |
|
Gastric ulcer, Gastric hypertrophy |
OMIM:161700 |
Intellectual Developmental Disorder, Autosomal Dominant 38 |
|
Aggressive behavior, Hair-pulling, Self-injurious behavior, High palate, Low-set ears, Bruxism, A... |
OMIM:616393 |
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Axial hypotonia, Ataxia, Severe temper tantrums, Aggressive behavior, Tremor, Spastic tetraplegia... |
OMIM:617710 |
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Prominent antihelix, Inappropriate laughter, Macrotia, Abnormal repetitive mannerisms, Bifid uvula |
OMIM:615802 |
Parkinson Disease, Late-Onset |
|
Resting tremor, Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Dysphagia |
OMIM:168600 |
Spinocerebellar Ataxia Type 42 |
|
Resting tremor, Upper limb postural tremor, Vertigo, Babinski sign, Unsteady gait, Gait ataxia, H... |
ORPHA:458803 |
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia |
|
Microtia, Congenital pyloric atresia, Esophageal stenosis |
OMIM:619817 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
High, narrow palate, Sensorineural hearing impairment, Head-banging, Hematochezia, Chronic consti... |
OMIM:619575 |
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
|
Hyperactivity, Hair-pulling, Hypsarrhythmia, Protruding ear, Gastroesophageal reflux, Low-set ear... |
ORPHA:447997 |
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities |
|
Aggressive behavior, Babinski sign, Scissor gait, Spastic tetraplegia, Dysmetria, Attention defic... |
OMIM:619121 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cerebellar atrophy, Ataxia, Cardiomegaly, Dysesthesia, Congestive heart failure, Vertigo, Optic a... |
OMIM:619259 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Ventricular hypertrophy, Hepatomegaly, Cardiac arrest, Ventricular tachycardia, Atrioventricular ... |
OMIM:212138 |
Choreoacanthocytosis |
|
Chorea, Hypertonia, Compulsive behaviors, Limb dystonia, Laryngeal dystonia, Impaired vibratory s... |
ORPHA:2388 |
Glutathionuria |
|
Tremor, Dysdiadochokinesis, Action tremor |
OMIM:231950 |
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly |
|
Aggressive behavior, Chronic constipation, High palate, Attention deficit hyperactivity disorder,... |
OMIM:618825 |
Congenital Disorder Of Glycosylation, Type Iia |
|
Posteriorly rotated ears, Protruding tongue, Aggressive behavior, Sensorineural hearing impairmen... |
OMIM:212066 |
Rasmussen Subacute Encephalitis |
|
Hyperactivity, Hemidystonia, Inability to walk, Increased theta frequency activity in EEG, EEG wi... |
ORPHA:1929 |
Classic Phenylketonuria |
|
Tremor, Paraplegia, Self-injurious behavior, Hypertonia, Attention deficit hyperactivity disorder... |
ORPHA:79254 |
Xq21 Microdeletion Syndrome |
|
Stapes ankylosis, Ataxia, Dilatated internal auditory canal, Sensorineural hearing impairment, Op... |
ORPHA:1435 |
Atrial Septal Defect, Coronary Sinus Type |
|
Unroofed coronary sinus, Bundle branch block, Left-to-right shunt, Abnormally loud pulmonic compo... |
ORPHA:99104 |
Childhood Absence Epilepsy |
|
Limb myoclonus, Punding, Jerky head movements, Attention deficit hyperactivity disorder |
ORPHA:64280 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Low-set, posteriorly rotated ears, Prolonged QT interval, Tachycardia, Bicuspid aortic valve, Rec... |
ORPHA:1772 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Ataxia, Cardiomegaly, Tremor, Sensorineural hearing impairment, Limb ataxia, Cardiomyopathy, Posi... |
OMIM:105210 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Cerebellar atrophy, Optic disc pallor, Ataxia, Abnormal auditory evoked potentials, Sensorineural... |
OMIM:619260 |
Oculopharyngodistal Myopathy 4 |
|
Tremor, Postural tremor, Dysphagia |
OMIM:619790 |
Neuraminidase Deficiency |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Sensorineural hearing impairment, Dysmetria, Cardiomyop... |
OMIM:256550 |
Aicardi-Goutieres Syndrome 6 |
|
Tremor, Rigidity, Dystonia |
OMIM:615010 |
Kleine-Levin Syndrome |
|
Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Slurred ... |
ORPHA:33543 |
Rheumatic Fever |
|
Hemiballismus, Chorea, Fasciculations, Anorexia |
ORPHA:3099 |
Simpson-Golabi-Behmel Syndrome |
|
Low-set, posteriorly rotated ears, Bundle branch block, Prolonged QT interval, Hepatomegaly, Vent... |
ORPHA:373 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Hepatomegaly, Abnormal cardiac ventricular function, Tricuspid regurgitation, Paroxysmal atrial f... |
ORPHA:1677 |
Mucopolysaccharidosis, Type Iiia |
|
Hepatomegaly, Hyperactivity, Splenomegaly, Asymmetric septal hypertrophy, Hearing impairment |
OMIM:252900 |
Multiple System Atrophy |
|
Axial dystonia, Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign,... |
ORPHA:102 |
13Q12.3 Microdeletion Syndrome |
|
Hyperactivity, Cryptorchidism, Constipation, Vomiting, Chronic otitis media, Self-mutilation, Hea... |
ORPHA:412035 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Macrotia, Cardiomegaly |
OMIM:613576 |
Leukoencephalopathy With Calcifications And Cysts |
|
Ataxia, Tremor, Abnormal pyramidal sign, Gait disturbance, Dystonia, Spasticity |
ORPHA:542310 |
Cystathioninuria |
|
Tremor |
ORPHA:212 |
Pseudohypoparathyroidism Type 1B |
|
Prolonged QT interval, Laryngeal dystonia, Paresthesia |
ORPHA:94089 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Hyperactivity, Ataxia, Abnormal neuron morphology, Aggressive behavior, EEG with generalized poly... |
ORPHA:163681 |
Combined Oxidative Phosphorylation Deficiency 13 |
|
Choreoathetosis, Axial hypotonia, Severe muscular hypotonia, Dystonia |
OMIM:614932 |
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Ataxia, Tremor, Babinski sign, Hypotonia, Dysmetria, Gait ataxia, Distal sensory impairment, Hype... |
OMIM:616505 |
Pseudohypoparathyroidism Type 1C |
|
Prolonged QT interval, Obesity, Paresthesia, Laryngeal dystonia, Polyphagia |
ORPHA:79444 |
Rett Syndrome |
|
Limb apraxia, Inability to walk, Bradykinesia, Agitation, Gait disturbance, Difficulty walking, D... |
ORPHA:778 |
Bainbridge-Ropers Syndrome |
|
Posteriorly rotated ears, Intestinal malrotation, Supernumerary nipple, Precocious puberty, Crypt... |
OMIM:615485 |
16P11.2P12.2 Microdeletion Syndrome |
|
Hyperactivity, Tricuspid regurgitation, Abnormal pinna morphology, Impaired pain sensation, Tics,... |
ORPHA:261211 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Posteriorly rotated ears, Left atrial enlargement, Cardiomegaly, Cardiom... |
OMIM:300280 |
Intellectual Developmental Disorder, Autosomal Recessive 41 |
|
Abnormal repetitive mannerisms, Self-injurious behavior, High palate |
OMIM:615637 |
Developmental And Epileptic Encephalopathy 74 |
|
Choreoathetosis, Hypotonia |
OMIM:618396 |
Subacute Inflammatory Demyelinating Polyneuropathy |
|
Somatic sensory dysfunction, Tremor, Distal sensory impairment, Choreoathetosis, Steppage gait, P... |
ORPHA:206594 |
Transketolase Deficiency |
|
Self-injurious behavior, Attention deficit hyperactivity disorder, Compulsive behaviors, Type I d... |
ORPHA:488618 |
Fixed Subaortic Stenosis |
|
Aortic regurgitation, Paroxysmal atrial fibrillation, Angina pectoris, Bicuspid aortic valve, Ven... |
ORPHA:3092 |
Insulin-Like Growth Factor I Deficiency |
|
Hyperactivity, Decreased serum insulin-like growth factor 1, Sensorineural hearing impairment, El... |
OMIM:608747 |
Aapoaiv Amyloidosis |
|
Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Cardiac conduction ab... |
ORPHA:439232 |
Lamb-Shaffer Syndrome |
|
Hyperactivity, Ataxia, Hypotonia, Abnormal temper tantrums, Abnormal repetitive mannerisms, Upper... |
ORPHA:530983 |
Pontocerebellar Hypoplasia Type 2 |
|
Paroxysmal dystonia, Infantile axial hypotonia, Oral-pharyngeal dysphagia, Babinski sign, Choreoa... |
ORPHA:2524 |
Holt-Oram Syndrome |
|
Paroxysmal atrial fibrillation, Ventricular septal defect, First degree atrioventricular block, A... |
ORPHA:392 |
Ebstein Anomaly |
|
Atrial fibrillation, Sudden cardiac death, Atrial standstill, Ebstein anomaly of the tricuspid va... |
OMIM:224700 |
Intellectual Disability-Strabismus Syndrome |
|
Hyperactivity, Decreased serum insulin-like growth factor 1, Decreased response to growth hormone... |
ORPHA:363528 |
Pitt-Hopkins Syndrome |
|
Supernumerary nipple, Cryptorchidism, Cupped ear, Self-injurious behavior, Gastroesophageal reflu... |
OMIM:610954 |
Trisomy 10P |
|
Absent gallbladder, Posteriorly rotated ears, Abnormal auditory evoked potentials, EEG with burst... |
ORPHA:171929 |
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome |
|
Speech apraxia, Abnormal repetitive mannerisms, Generalized hypotonia |
ORPHA:529965 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Interictal EEG abnormality, Optic disc pallor, Abnormal repetitive mannerisms, Dysphagia |
ORPHA:79264 |
Adult-Onset Dystonia-Parkinsonism |
|
Eyelid apraxia, Dystonia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic ... |
ORPHA:199351 |
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy |
|
Waddling gait, Tremor, Shuffling gait, Fasciculations, Loss of ambulation |
ORPHA:209335 |
Leopard Syndrome 1 |
|
Bundle branch block, Posteriorly rotated ears, Complete atrioventricular canal defect, Sensorineu... |
OMIM:151100 |
Neurodegeneration With Brain Iron Accumulation 4 |
|
Generalized dystonia, Ataxia, Parkinsonism, Impulsivity, Tremor, Babinski sign, Abnormal pyramida... |
OMIM:614298 |
Epilepsy, Familial Adult Myoclonic, 2 |
|
Tremor, Ataxia, Blepharospasm, Myoclonus |
OMIM:607876 |
Tick-Borne Encephalitis |
|
Facial palsy, Nausea, Anorexia, Vertigo, Abnormal cranial nerve morphology, Abnormal glossopharyn... |
ORPHA:297 |
Saccharopinuria |
|
Tremor, Spastic diplegia, Distal sensory impairment, Gait ataxia |
ORPHA:3124 |
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Dystonia, Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Dysdiadochokinesis, Dy... |
OMIM:614381 |
Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Atrial fibrillation, V... |
ORPHA:137675 |
Deafness, Autosomal Recessive 118, With Cochlear Aplasia |
|
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear aplasia |
OMIM:619553 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Cerebellar atrophy, Hyperactivity, Ataxia, EEG with spike-wave complexes, Aggressive behavior, Co... |
ORPHA:168491 |
Stankiewicz-Isidor Syndrome |
|
Hyperactivity, Cryptorchidism, Pineal cyst, Abnormal optic disc morphology, Low-set ears, Hearing... |
OMIM:617516 |
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis |
|
Cerebellar atrophy, Posteriorly rotated ears, Optic atrophy, Cerebral atrophy, Right bundle branc... |
OMIM:618590 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Wolff-Parkinson-White syndrome, Optic disc pallor, Ventricular septal defect, Ataxia, Tremor, Opt... |
OMIM:614947 |
Gomez-Lopez-Hernandez Syndrome |
|
Hyperactivity, Posteriorly rotated ears, Decreased response to growth hormone stimulation test, S... |
OMIM:601853 |
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Bowel incontinence, Optic atrophy, Chronic constipation, Dysphagia, Macrotia, Abnormal repetitive... |
ORPHA:496641 |
Tremor, Nystagmus, And Duodenal Ulcer |
|
Tremor, Kinetic tremor |
OMIM:190310 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Cardiomegaly, Pericardial effusion, Optic atrophy, Bradycardia, Dystonia, Hypertrophic cardiomyop... |
OMIM:614702 |
Scorpion Envenomation |
|
Bundle branch block, Tachycardia, Restlessness, Ataxia, Cardiac conduction abnormality, Tremor, C... |
ORPHA:466677 |
Combined Oxidative Phosphorylation Deficiency 32 |
|
Tremor, Hypotonia, Dysphagia, Choreoathetosis, Dystonia, Spasticity |
OMIM:617664 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Hypoparathyroidism, Atrophic gastritis, Female hypogonadism, Decreased circulating parathyroid ho... |
OMIM:240300 |
Saethre-Chotzen Syndrome |
|
Prominent crus of helix, External ear malformation, Sensorineural hearing impairment, Cryptorchid... |
ORPHA:794 |
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Incoordination, Ataxia, Tremor, Abnormal pyramidal sign, Eyelid myoclonus, Generalized hypotonia,... |
OMIM:618060 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Tremor, Hypotonia, Choreoathetosis, Myoclonus, Generalized hypotonia, Dystonia, Episodic ataxia |
OMIM:312170 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Exaggerated startle response, Axial hypotonia, Tremor, Truncal titubation, Dysmetria, Gait ataxia... |
OMIM:618056 |
Van Esch-O'Driscoll Syndrome |
|
Hypogonadotropic hypogonadism, Impulsivity, Esophageal atresia, Tracheoesophageal fistula, Protru... |
OMIM:301030 |
Congenital Toxoplasmosis |
|
Hepatomegaly, Cardiomegaly, Hearing impairment |
ORPHA:858 |
Nabais Sa-De Vries Syndrome, Type 2 |
|
Hemiparesis, Chorea, Neonatal hypotonia, Dystonia |
OMIM:618829 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Speech apraxia, Dystonia, Ataxia, Tremor, Chorea, Hypotonia, Athetosis, Hyperkinetic movements, G... |
OMIM:615356 |
Marbach-Schaaf Neurodevelopmental Syndrome |
|
Posteriorly rotated ears, Aggressive behavior, Submucous cleft hard palate, Attention deficit hyp... |
OMIM:619680 |
19P13.12 Microdeletion Syndrome |
|
Aortic regurgitation, Atrial septal defect, Hyperactivity, Ventricular septal defect, External ea... |
ORPHA:254346 |
Allan-Herndon-Dudley Syndrome |
|
Axial hypotonia, Ataxia, Babinski sign, Abnormal pyramidal sign, Spastic tetraplegia, Choreoathet... |
ORPHA:59 |
Parkinson Disease 1, Autosomal Dominant |
|
Resting tremor, Dystonia, Parkinsonism, Rigidity, Bradykinesia, Gait disturbance, Myoclonus, Shuf... |
OMIM:168601 |
Galloway-Mowat Syndrome 6 |
|
Decreased response to growth hormone stimulation test, Abnormal repetitive mannerisms, High palat... |
OMIM:618347 |
Woodhouse-Sakati Syndrome |
|
Sensorineural hearing impairment, Protruding ear, Choreoathetosis, Dystonia, Abnormal T-wave, Hea... |
OMIM:241080 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Congestive heart failure, Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction... |
OMIM:614096 |
Absence Of The Pulmonary Artery |
|
Abnormal EKG, Atrial flutter, Atrial fibrillation, Tachycardia, Cardiomegaly, Congestive heart fa... |
ORPHA:980 |
Mucopolysaccharidosis, Type Iiic |
|
Hyperactivity, Diarrhea, Dysphagia, Hearing impairment |
OMIM:252930 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Hepatomegaly, Transient ischemic attack, Cardiomegaly, Vasculitis, Shortened PR interval, Left ve... |
ORPHA:365 |
9P13 Microdeletion Syndrome |
|
Abnormality of cartilage of external ear, Precocious puberty, High palate, Low-set ears, Bruxism,... |
ORPHA:324313 |
Hypermanganesemia With Dystonia 1 |
|
Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordination, Abnormality... |
OMIM:613280 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Optic disc pallor, Hyperactivity, Anterior pituitary hypoplasia, Cryptorchidism, Pyloric stenosis... |
ORPHA:464306 |
Progressive Supranuclear Palsy |
|
Dystonia, Impulsivity, Tremor, Rigidity, Unsteady gait, Blepharospasm, Bradykinesia, Falls, Dysph... |
ORPHA:683 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Hyperactivity, Broad-based gait, Ataxia, Abnormal eating behavior, Tremor, Tongue thrusting, Inap... |
ORPHA:98794 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 7 |
|
Hyperactivity, Aggressive behavior, Cryptorchidism, Sensorineural hearing impairment, Vomiting |
OMIM:615824 |
Developmental And Epileptic Encephalopathy 4 |
|
Tremor, Spastic paraplegia, Hypotonia, Spastic tetraplegia, Choreoathetosis |
OMIM:612164 |
Cystinosis |
|
Malabsorption, Nephrogenic diabetes insipidus, Hypothyroidism, Vomiting, Delayed puberty, Type I ... |
ORPHA:213 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Hepatomegaly, Cardiac arrest, Cardiomegaly, Sensorineural hearing impairment, Cardiomyopathy, Lef... |
OMIM:617713 |
Perry Syndrome |
|
Tremor, Abnormality of extrapyramidal motor function, Parkinsonism |
ORPHA:178509 |
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Sensorineural hearing impairment, Hypsarrhythmia, EEG with frontal sharp slow waves, EEG abnormal... |
ORPHA:457351 |
X-Linked Adrenoleukodystrophy |
|
Hyperactivity, Aggressive behavior, Increased circulating ACTH level, Progressive hearing impairm... |
ORPHA:43 |
Chromosome Xq13 Duplication Syndrome |
|
Hyperactivity, Posteriorly rotated ears, Aggressive behavior, Chronic constipation, Attention def... |
OMIM:301069 |
Niemann-Pick Disease Type C |
|
Tremor, Chorea, Abnormal pyramidal sign, Progressive gait ataxia, Compulsive behaviors, Limb dyst... |
ORPHA:646 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:109120 |
Waisman Syndrome |
|
Resting tremor, Parkinsonism, Rigidity, Cogwheel rigidity, Bradykinesia, Parkinsonism with favora... |
OMIM:311510 |
Cimdag Syndrome |
|
Ataxia, Chorea, Hypotonia, Dystonia, Spasticity |
OMIM:619273 |
Alpha-N-Acetylgalactosaminidase Deficiency |
|
Vertigo, Cardiomegaly, Cerebral cortical atrophy, Hearing impairment |
ORPHA:3137 |
Parkinson Disease 8, Autosomal Dominant |
|
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Parkinsonism with favorable response to dop... |
OMIM:607060 |
Refsum Disease |
|
Ataxia, Heart block, Splenomegaly, Sensorineural hearing impairment, Cardiomyopathy |
ORPHA:773 |
Isotretinoin-Like Syndrome |
|
Bicuspid aortic valve, Abnormal cardiac ventricle morphology, Aplasia/Hypoplasia of the inner ear... |
ORPHA:2306 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Hyperactivity, Small for gestational age, Congenital sensorineural hearing impairment, Sensorineu... |
ORPHA:73272 |
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Chorea, Infantile muscular hypotonia, Truncal ataxia |
ORPHA:369840 |
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills |
|
Bruxism, Agitation, Gait disturbance, Dystonia, Recurrent hand flapping |
OMIM:617903 |
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Tremor, Sensorineural hearing impairment, Hypertonia, Gait disturbance |
ORPHA:1192 |
Neu-Laxova Syndrome |
|
Opisthotonus |
ORPHA:2671 |
Congenital Myopathy 8 |
|
Congestive heart failure, Cardiomegaly |
OMIM:618654 |
Otofaciocervical Syndrome 1 |
|
Mixed hearing impairment, Hypoplasia of the cochlea, Cupped ear, High palate, Conductive hearing ... |
OMIM:166780 |
Migraine, Familial Hemiplegic, 2 |
|
Tremor, Vertigo, Dysmetria, Gait ataxia, Hemiparesis, Apraxia, Episodic ataxia, Hemiplegia |
OMIM:602481 |
Keppen-Lubinsky Syndrome |
|
Hypertonia, Spastic tetraparesis, Opisthotonus |
OMIM:614098 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Posteriorly rotated ears, Protruding tongue, Cryptorchidism, Sensorineural hearing impairment, Ma... |
OMIM:301040 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Optic nerve hypoplasia, Sensorineural hearing impairment, High palate, Abnormal autonomic nervous... |
ORPHA:300570 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Prolonged QT interval, Atrial septal defect, Bicuspid aortic valve, Myocardial infarction, Extern... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Prolonged QT interval, Atrial septal defect, Bicuspid aortic valve, Myocardial infarction, Extern... |
ORPHA:99228 |
Monosomy X |
|
Prolonged QT interval, Atrial septal defect, Bicuspid aortic valve, Myocardial infarction, Extern... |
ORPHA:99226 |
Turner Syndrome |
|
Prolonged QT interval, Atrial septal defect, Bicuspid aortic valve, Myocardial infarction, Extern... |
ORPHA:881 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Ventricular septal defect, Biventricular hypertrophy, Hypertension, Second degree atrioventricula... |
OMIM:615474 |
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities |
|
Hyperactivity, Aggressive behavior, Gastroesophageal reflux, High palate, Attention deficit hyper... |
OMIM:620242 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Ataxia, Aggressive behavior, Self-injurious behavior, Hypertonia, Gait disturbance, Attention def... |
OMIM:300986 |
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features |
|
Broad-based gait, Hyperactivity, Ataxia, Unsteady gait, Pica, Tongue thrusting, Stereotypical bod... |
OMIM:617865 |
Wiedemann-Steiner Syndrome |
|
Hyperactivity, Decreased response to growth hormone stimulation test, Aggressive behavior, Gastro... |
ORPHA:319182 |
47,Xyy Syndrome |
|
Hyperactivity, Impulsivity, Cryptorchidism, Increased circulating gonadotropin level, Increased s... |
ORPHA:8 |
Angelman Syndrome Due To A Point Mutation |
|
Broad-based gait, Ataxia, Abnormal eating behavior, Tongue thrusting, Inappropriate laughter, Gai... |
ORPHA:411511 |
Spontaneous Periodic Hypothermia |
|
Tremor, Ataxia, Gait disturbance |
ORPHA:29822 |
Pilarowski-Bjornsson Syndrome |
|
Speech apraxia, Abnormal repetitive mannerisms, Hypotonia |
OMIM:617682 |
Pyruvate Dehydrogenase Deficiency |
|
Cerebral palsy, Ataxia, Tremor, Abnormal pyramidal sign, Hypotonia, Choreoathetosis, Dystonia, Sp... |
ORPHA:765 |
Cockayne Syndrome Type 1 |
|
Absent brainstem auditory responses, Failure to thrive, Ataxia, Tremor, Optic atrophy, Hypertensi... |
ORPHA:90321 |
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Parkinsonism, Repetitive compulsive behavior, Hypersexuality, Agitation, Disinhibition, Apraxia, ... |
OMIM:607485 |
Pyloric Atresia |
|
Congenital pyloric atresia |
OMIM:265950 |
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
EEG with parietal epileptiform discharges, Ataxia, Hypsarrhythmia, Head tremor, Continuous spike ... |
OMIM:619428 |
Amish Nemaline Myopathy |
|
Tremor, Neonatal hypotonia |
ORPHA:98902 |
Alexander Disease |
|
Ataxia, Clonus, Tremor, Chorea, Abnormal pyramidal sign, Hypotonia, Tetraplegia, Self-injurious b... |
ORPHA:58 |
Norrie Disease |
|
Diabetes mellitus, Cryptorchidism, Sensorineural hearing impairment, Optic atrophy, Protruding ea... |
ORPHA:649 |
Mend Syndrome |
|
Hyperactivity, Abnormal auditory evoked potentials, Aggressive behavior, Cryptorchidism, Cleft pa... |
ORPHA:401973 |
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome |
|
Tremor, Dysmetria, Gait ataxia, Generalized hypotonia, Oculomotor apraxia, Spasticity |
ORPHA:529665 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Tremor, Agitation |
ORPHA:276608 |
Aortic Arch Interruption |
|
Bicuspid aortic valve, Aortic valve atresia, Aortopulmonary window, Absent pulse, Single ventricl... |
ORPHA:2299 |
Lyme Disease |
|
Arrhythmia, Paresthesia, Atrioventricular block |
ORPHA:91546 |
Eisenmenger Syndrome |
|
Ventricular tachycardia, Aortopulmonary window, Bacterial endocarditis, Supraventricular tachycar... |
ORPHA:97214 |
Atrial Standstill 2 |
|
Atrial cardiomyopathy, Absent P wave, Atrial standstill, Dilatation of the ventricular cavity, Ca... |
OMIM:615745 |
Hydranencephaly |
|
Spastic diplegia, Opisthotonus |
ORPHA:2177 |
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of |
|
Absence of intrinsic factor |
OMIM:243320 |
Leigh Syndrome |
|
Dystonia, Ataxia, Involuntary movements, Chorea, Spastic diplegia, Infantile muscular hypotonia, ... |
ORPHA:506 |
Intellectual Developmental Disorder, Autosomal Dominant 1 |
|
Aggressive behavior, Cupped ear, Protruding ear, Macroglossia, Self-injurious behavior, Microtia,... |
OMIM:156200 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
EEG with parietal focal spikes, Posteriorly rotated ears, Aggressive behavior, Precocious puberty... |
OMIM:301066 |
Adult Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Somatic sensory dysfunction, Broad-based gait, At... |
ORPHA:206448 |
Keppen-Lubinsky Syndrome |
|
Hypertonia, Spastic tetraparesis, Opisthotonus |
ORPHA:435628 |
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Nail-biting, Hyperactivity, Aggressive behavior, EEG with generalized epileptiform discharges, Se... |
OMIM:619827 |
Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Cardiomegaly, Congestive heart failure, Splenomegaly, Cerebral atrophy |
OMIM:269920 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Optic disc pallor, Cryptorchidism, Protruding ear, Posterior pituitary hypoplasia, Gastroesophage... |
ORPHA:464311 |
Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities |
|
Hyperactivity, Cryptorchidism, Hypoplastic nipples, Macrotia, Bifid uvula |
OMIM:618505 |
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly |
|
Hyperactivity, Aggressive behavior, Sensorineural hearing impairment, Self-injurious behavior, Lo... |
OMIM:620075 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Eyelid apraxia, Hyperactivity, Dystonia, Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, A... |
OMIM:234200 |
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia |
|
Anteverted ears, Aplasia of the inner ear, Microtia, first degree, Profound sensorineural hearing... |
OMIM:610706 |
X-Linked Intellectual Disability, Schimke Type |
|
Choreoathetosis, Spasticity, Infantile muscular hypotonia |
ORPHA:85285 |
Congenital Disorder Of Deglycosylation 1 |
|
Restlessness, Pain insensitivity, Facial hypotonia, Involuntary movements, Oral-pharyngeal dyspha... |
OMIM:615273 |
Autosomal Dominant Spastic Paraplegia Type 9A |
|
Tremor, Sensorineural hearing impairment, Babinski sign, Abnormal pyramidal sign, Impaired vibrat... |
ORPHA:447753 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Ventricular escape rhythm, Supraventricular arrhythmia, Sudden cardiac death, Dilated cardiomyopa... |
ORPHA:98855 |
Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Hyperactivity, Aggressive behavior, Unsteady gait, Recurrent hand flapping, Self-mutilation |
OMIM:615516 |
Arthrogryposis, Distal, Type 2A |
|
Cryptorchidism, High palate, Abnormal auditory evoked potentials, Hearing impairment |
OMIM:193700 |
Mucopolysaccharidosis Type 2 |
|
Otosclerosis, Papilledema, Hyperactivity, Impulsivity, Aggressive behavior, Decreased nerve condu... |
ORPHA:580 |
Juvenile Dermatomyositis |
|
Gastrointestinal hemorrhage, Bundle branch block, Pericarditis, Angina pectoris, Telangiectasia o... |
ORPHA:93672 |
Emery-Dreifuss Muscular Dystrophy |
|
Ventricular escape rhythm, Sudden cardiac death, Supraventricular arrhythmia, Dilated cardiomyopa... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Ventricular escape rhythm, Sudden cardiac death, Supraventricular arrhythmia, Dilated cardiomyopa... |
ORPHA:98853 |
Myopathy, Mitochondrial, And Ataxia |
|
Ataxia, Tremor, Inability to walk, Dysmetria, Limb ataxia, Distal sensory impairment, Dysdiadocho... |
OMIM:617675 |
7Q11.23 Microduplication Syndrome |
|
Low-set, posteriorly rotated ears, Collectionism, Hyperactivity, Aggressive behavior, Cryptorchid... |
ORPHA:96121 |
Myoclonic-Astatic Epilepsy |
|
EEG with polyspike wave complexes, Hyperactivity, EEG with focal spike waves, Ataxia, Tremor, Uns... |
ORPHA:1942 |
Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Anorexia, Abnormal left ventricular function, Internal hemorrhage, Hepatomeg... |
ORPHA:99827 |
Developmental And Epileptic Encephalopathy 100 |
|
Axial hypotonia, Chorea, Hypotonia, Gait ataxia, Choreoathetosis, Appendicular hypotonia, Myoclon... |
OMIM:619777 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4 |
|
Cerebellar atrophy, Facial palsy, Left bundle branch block, Arrhythmia, Ventricular bigeminy |
OMIM:610131 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Sensorineural hearing impairment, Aortic valve stenosis, Hypoplastic left heart, Incomplete parti... |
OMIM:617660 |
O'Sullivan-Mcleod Syndrome |
|
Tremor, Somatic sensory dysfunction, Fasciculations |
ORPHA:99965 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Absent brainstem auditory responses, Diffuse cerebral atrophy, Head titubation, Vestibular arefle... |
ORPHA:3240 |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Supernumerary nipple, Cryptorchidism, Anteriorly placed anus, High palate, Low-set ears, Overfold... |
OMIM:618653 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Cardiomegaly, Hypertension, Microtia, Low-set ears, Pulmonary arterial hypertension |
OMIM:613320 |
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities |
|
Short ear, Hyperactivity, Posteriorly rotated ears, Hiatus hernia, Aggressive behavior, Protrudin... |
OMIM:614756 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Hyperactivity, Posteriorly rotated ears, Cryptorchidism, Sensorineural hearing impairment, Optic ... |
OMIM:619512 |
Bronchogenic Cyst |
|
Abnormal esophagus morphology, Dysphagia, Abnormal stomach morphology |
ORPHA:2357 |
Developmental And Epileptic Encephalopathy 87 |
|
Recurrent hand flapping, High palate, Hypsarrhythmia |
OMIM:618916 |
Parkinson Disease 23, Autosomal Recessive Early-Onset |
|
Resting tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign, Limb dystonia, Spasticity |
OMIM:616840 |
Marbach-Rustad Progeroid Syndrome |
|
Right bundle branch block, Pulmonary insufficiency, Ventricular septal hypertrophy, Intention tremor |
OMIM:619322 |
Beck-Fahrner Syndrome |
|
Ventricular septal defect, Cardiomegaly, Attention deficit hyperactivity disorder, Protruding ear |
OMIM:618798 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Hyperactivity, Posteriorly rotated ears, Aggressive behavior, Cryptorchidism, Pyloric stenosis, A... |
OMIM:619148 |
East Syndrome |
|
Salt craving, Ataxia, Inability to walk, Sensorineural hearing impairment, Difficulty walking, Po... |
ORPHA:199343 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Ventricular escape rhythm, Supraventricular arrhythmia, Sudden cardiac death, Atrioventricular bl... |
ORPHA:98863 |
5Q14.3 Microdeletion Syndrome |
|
Abnormal repetitive mannerisms, Optic nerve hypoplasia |
ORPHA:228384 |
21Q22.11Q22.12 Microdeletion Syndrome |
|
Hyperactivity, Tongue thrusting, Self-injurious behavior, Microtia, Stereotypical body rocking, H... |
ORPHA:261323 |
Familial Atrial Fibrillation |
|
Atrial fibrillation, Myocardial infarction, Vertigo, Syncope, Palpitations |
ORPHA:334 |
Neurodevelopmental Disorder With Or Without Autism Or Seizures |
|
Hyperactivity, EEG with burst suppression, Hypsarrhythmia, Pulmonic stenosis, Failure to thrive |
OMIM:619239 |
Serrated Polyposis Syndrome |
|
Pancreatic adenocarcinoma, Biliary tract neoplasm, Gastric diverticulum, Adenomatous colonic poly... |
ORPHA:157798 |
Jaberi-Elahi Syndrome |
|
Appendicular spasticity, Broad-based gait, Tremor, Inability to walk, Dysmetria, Protruding ear, ... |
OMIM:617988 |
Infantile Neuroaxonal Dystrophy |
|
Cerebellar atrophy, Hyperactivity, Ataxia, Impulsivity, Unsteady gait, Optic atrophy, Gait distur... |
ORPHA:35069 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Choreoathetosis, Hypotonia, Anorexia, Dystonia |
ORPHA:79312 |
New-Onset Refractory Status Epilepticus |
|
Interictal EEG abnormality, Abnormal head movements, Multifocal epileptiform discharges, EEG with... |
ORPHA:363558 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Ataxia, Paraplegia, Agitation, Infantile muscular hypotonia, Abnormal repetitive mannerisms |
ORPHA:927 |
Young-Onset Parkinson Disease |
|
Restless legs, Impulsivity, Tremor, Rigidity, Bradykinesia, Agitation, Dystonia, Spasticity |
ORPHA:2828 |
Pulmonary Hypertension, Primary, 4 |
|
Atrial flutter, Pulmonary arterial hypertension with lack of acute response to NO challenge, Firs... |
OMIM:615344 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Papilledema, Bicuspid aortic valve, Ventricular septal defect, Atrioventricular block, Mitral val... |
ORPHA:371428 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Repetitive compulsive behavior, Abnormal Eustachian tube morphology, Cleft palate, Pineal cyst, S... |
ORPHA:513456 |
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome |
|
Heart block, Bacterial endocarditis, Premature ventricular contraction |
ORPHA:1964 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Atrial septal defect, Tricuspid regurgitation, Posteriorly rotated ears, Optic nerve hypoplasia, ... |
OMIM:617506 |
Cerebellar-Facial-Dental Syndrome |
|
Abnormal T-wave, Ventricular septal defect, Low-set ears, Mitral valve prolapse |
ORPHA:444072 |
Lethal Acantholytic Erosive Disorder |
|
Abnormal pinna morphology, Cardiomegaly, Impaired myocardial contractility, Hypovolemic shock, Ca... |
ORPHA:158687 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Low-set, posteriorly rotated ears, Optic disc pallor, Optic nerve hypoplasia, Cryptorchidism, Sel... |
ORPHA:468631 |
Meier-Gorlin Syndrome 7 |
|
Ventricular septal defect, Heart block, Complete atrioventricular canal defect, Sensorineural hea... |
OMIM:617063 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Tricuspid regurgitation, Myocardial infarction, Cardiomegaly, Congestive heart failure, Hypertens... |
OMIM:614473 |
Purine Nucleoside Phosphorylase Deficiency |
|
Hyperactivity, Sensorineural hearing impairment, Unusual gastrointestinal infection |
ORPHA:760 |
Intellectual Developmental Disorder, X-Linked 12 |
|
Tremor, Sensorineural hearing impairment, Hyperkinetic movements, Gait disturbance, Spasticity |
OMIM:300957 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Restlessness, Hyperactivity, Aggressive behavior, Cryptorchidism, Furrowed tongue, Protruding ear... |
OMIM:300534 |
Angelman Syndrome |
|
Abnormality of the gastrointestinal tract, Optic disc pallor, Hyperactivity, Precocious puberty i... |
ORPHA:72 |
Esophageal Atresia |
|
Barrett esophagus, Intestinal malrotation, Maternal diabetes, Pyloric stenosis, Gastrointestinal ... |
ORPHA:1199 |
Hamamy Syndrome |
|
Prolonged QRS complex, Complete atrioventricular canal defect, Sensorineural hearing impairment, ... |
OMIM:611174 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Abnormality of the gastrointestinal tract, Cryptorchidism, Gastrointestinal dysmotility, Bruxism,... |
ORPHA:453499 |
X-Linked Intellectual Disability, Cabezas Type |
|
Hyperactivity, Aggressive behavior, Abnormal earlobe morphology, EEG abnormality, High palate, Hy... |
ORPHA:85293 |
Tay-Sachs Disease |
|
Exaggerated startle response, Incoordination, Dystonia, Tremor, Inability to walk, Dysmetria, Clu... |
ORPHA:845 |
Mogs-Cdg |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Hydrocele t... |
ORPHA:79330 |
Familial Atrial Myxoma |
|
Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Pulmonic valve myxoma, Cardiac m... |
ORPHA:615 |
Mucopolysaccharidosis, Type Iiid |
|
Restlessness, Hyperactivity, Aggressive behavior, Diarrhea, Macroglossia, Agitation, Low-set ears... |
OMIM:252940 |
Woodhouse-Sakati Syndrome |
|
Protruding ear, Choreoathetosis, Bilateral sensorineural hearing impairment, Dystonia, Abnormal T... |
ORPHA:3464 |
Cutis Laxa, Autosomal Recessive, Type Iid |
|
Hypoplastic right heart, Congestive heart failure, Protruding ear, Right bundle branch block, Low... |
OMIM:617403 |
Kinsship Syndrome |
|
Chronic constipation, Ankyloglossia, Gastroesophageal reflux, Low-set ears, Bruxism, Abnormal rep... |
OMIM:619297 |
Cerebrotendinous Xanthomatosis |
|
Cerebellar atrophy, Optic disc pallor, Somatic sensory dysfunction, Resting tremor, Ataxia, Abnor... |
ORPHA:909 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Hyperactivity, Aggressive behavior, High palate, Compulsive behaviors, Low-set ears, Macroorchidi... |
OMIM:309520 |
Okur-Chung Neurodevelopmental Syndrome |
|
Protruding tongue, Cupped ear, High palate, Constipation, Low-set ears, Attention deficit hyperac... |
OMIM:617062 |
Alpha-1-Antitrypsin Deficiency |
|
Gastric varix, Hepatocellular carcinoma |
OMIM:613490 |
Williams Syndrome |
|
Rectal prolapse, Protruding ear, Gastroesophageal reflux, Compulsive behaviors, Chronic otitis me... |
ORPHA:904 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Overriding aorta, Ventricular septal defect, Hypertension, Second degree atrioventricular block, ... |
OMIM:617021 |
X-Linked Cerebral Adrenoleukodystrophy |
|
Hyperactivity, Decreased circulating cortisol level, Primary adrenal insufficiency, Dysphagia, Ma... |
ORPHA:139396 |
Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Gastritis, Duodenitis, Chronic diarrhea, Pancolitis, Bloody diarrhea, Protein-losing enteropathy,... |
OMIM:619079 |
1P36 Deletion Syndrome |
|
Low-set, posteriorly rotated ears, Pyloric stenosis, Sensorineural hearing impairment, Cryptorchi... |
ORPHA:1606 |
Distal Duplication 17Q |
|
Low-set, posteriorly rotated ears, Hyperactivity, Cryptorchidism, Cleft palate, Protruding ear, H... |
ORPHA:3379 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Tricuspid regurgitation, Cardiomegaly, Limb ataxia, Truncal ataxia, Pulm... |
OMIM:619051 |
Pantothenate Kinase-Associated Neurodegeneration |
|
Limb dystonia, Dystonia, Parkinsonism, Impulsivity, Rigidity, Slurred speech, Leg dystonia, Chore... |
ORPHA:157850 |
Childhood Disintegrative Disorder |
|
Abnormal repetitive mannerisms |
ORPHA:168782 |
Houge-Janssens Syndrome 3 |
|
Abnormal repetitive mannerisms, Self-injurious behavior, High palate, Attention deficit hyperacti... |
OMIM:618354 |
Joubert Syndrome 6 |
|
Oculomotor apraxia, Abnormal repetitive mannerisms, Ataxia, Hypotonia |
OMIM:610688 |
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome |
|
Posteriorly rotated ears, Underdeveloped superior crus of antihelix, Aggressive behavior, High, n... |
ORPHA:369950 |
Pettigrew Syndrome |
|
Aggressive behavior, Hypotonia, Gait ataxia, Choreoathetosis, Self-injurious behavior, Spasticity... |
OMIM:304340 |
African Trypanosomiasis |
|
Papilledema, Pericarditis, Abnormal EKG, Hepatomegaly, Somatic sensory dysfunction, Aggressive be... |
ORPHA:3385 |
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features |
|
Ataxia, Tremor, Sensorineural hearing impairment, Babinski sign, Spastic paraplegia, Dysmetria, S... |
OMIM:618527 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Second degree atrioventricular block, Syncope, Palpitations, Sinus bradycardia |
OMIM:616812 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Dystonia, Ataxia, Chorea, Gait ataxia, Hypertonia, Dysphagia, Spasticity, Infantile muscular hypo... |
ORPHA:255210 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Dilated cardiomyopathy, Ventricular tachycardia, Cardiomegaly |
OMIM:600649 |
Friedreich Ataxia 2 |
|
Impaired vibratory sensation, Abnormal EKG, Ataxia, Congestive heart failure, Concentric hypertro... |
OMIM:601992 |
Episodic Ataxia Type 1 |
|
Choreoathetosis, Poor coordination, Hypertonia, Clumsiness |
ORPHA:37612 |
Hypotonia, Ataxia, And Delayed Development Syndrome |
|
Posteriorly rotated ears, Cryptorchidism, Overfolded helix, Gastroesophageal reflux, Low-set ears... |
OMIM:617330 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Hyperactivity, Intestinal malrotation, Impulsivity, Aggressive behavior, Cryptorchidism, Sensorin... |
ORPHA:353281 |
Seckel Syndrome 1 |
|
Hyperactivity, Abnormal pinna morphology, Cryptorchidism, Cleft palate, High palate, Low-set ears |
OMIM:210600 |
Myotonic Dystrophy 2 |
|
Right bundle branch block, Tachycardia, Palpitations, Premature ventricular contraction |
OMIM:602668 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Cardiomegaly, Hearing impairment |
OMIM:618838 |
Graves Disease, Susceptibility To, 1 |
|
Congestive heart failure, Hyperactivity, Polyphagia, Weight loss |
OMIM:275000 |
Developmental And Epileptic Encephalopathy 66 |
|
Cryptorchidism, Abnormal repetitive mannerisms |
OMIM:618067 |
Congenital Tracheal Stenosis |
|
Abnormal stomach morphology, Tracheoesophageal fistula, Abnormal earlobe morphology, Duodenal ste... |
ORPHA:141127 |
Congenital Disorder Of Glycosylation, Type Ij |
|
Aggressive behavior, Tremor, Hypotonia, Hypertonia, Generalized hypotonia |
OMIM:608093 |
Intellectual Developmental Disorder, Autosomal Dominant 29 |
|
Hyperactivity, Aggressive behavior, Cryptorchidism, Narrow palate, Self-injurious behavior, High ... |
OMIM:616078 |
Angelman Syndrome |
|
Broad-based gait, Hyperactivity, Ataxia, Paroxysmal bursts of laughter, Limb tremor, Obesity, EEG... |
OMIM:105830 |
Helsmoortel-Van Der Aa Syndrome |
|
Hyperactivity, Posteriorly rotated ears, Decreased response to growth hormone stimulation test, F... |
OMIM:615873 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Posteriorly rotated ears, Ventricular septal defect, Cardiomegaly, Large fleshy ears, Low-set ear... |
OMIM:616897 |
Chronic Thromboembolic Pulmonary Hypertension |
|
Cardiac shunt, Right ventricular failure, Pulmonary embolism, Increased pulmonary vascular resist... |
ORPHA:70591 |
Pediatric-Onset Graves Disease |
|
Hepatomegaly, Hyperactivity, Atrial fibrillation, Tremor, Congestive heart failure, Splenomegaly,... |
ORPHA:525731 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Opisthotonus |
OMIM:269150 |
Koolen-De Vries Syndrome |
|
Hyperactivity, Impulsivity, Anteverted ears, Cryptorchidism, Pyloric stenosis, Cleft palate, Narr... |
OMIM:610443 |
Glass Syndrome |
|
Restlessness, Hyperactivity, Posteriorly rotated ears, Aggressive behavior, Cleft palate, High pa... |
OMIM:612313 |
Combined Oxidative Phosphorylation Deficiency 18 |
|
Tremor, Hypotonia, Dysmetria |
OMIM:615578 |
Proximal 16P11.2 Microduplication Syndrome |
|
Tremor, Attention deficit hyperactivity disorder, Hypotonia, Compulsive behaviors |
ORPHA:370079 |
Developmental And Epileptic Encephalopathy 95 |
|
Cerebellar atrophy, Hepatomegaly, Posteriorly rotated ears, Ataxia, Cardiomegaly, Cerebral atroph... |
OMIM:618143 |
Niemann-Pick Disease, Type C2 |
|
Dystonia, Ataxia, Hypotonia, Dysphagia, Cataplexy, Spasticity, Abnormal repetitive mannerisms |
OMIM:607625 |
Duane Retraction Syndrome |
|
External ear malformation, Sensorineural hearing impairment, Anorectal anomaly, Cleft palate, Ste... |
ORPHA:233 |
Cockayne Syndrome B |
|
Abnormal pinna morphology, Ataxia, Abnormal auditory evoked potentials, Small for gestational age... |
OMIM:133540 |
Coenzyme Q10 Deficiency, Primary, 1 |
|
Ataxia, Tremor, Sensorineural hearing impairment, Myoclonus, Dysphagia, Loss of ambulation, Right... |
OMIM:607426 |
Postaxial Acrofacial Dysostosis |
|
Supernumerary nipple, Cryptorchidism, Pyloric stenosis, Cupped ear, Midgut malrotation, Cleft pal... |
OMIM:263750 |
Hemochromatosis, Type 1 |
|
Hepatomegaly, Cardiomegaly, Congestive heart failure, Splenomegaly, Telangiectasia, Cardiomyopath... |
OMIM:235200 |
Coffin-Siris Syndrome 12 |
|
Overfolding of the superior helices, Posteriorly rotated ears, Facial palsy, Celiac disease, Cryp... |
OMIM:619325 |
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Tremor, Vocal cord paralysis, Dysphagia |
ORPHA:397744 |
Serotonin Syndrome |
|
Restlessness, Clonus, Tremor, Rigidity, Hypertonia, Agitation, Myoclonus |
ORPHA:43116 |
Legius Syndrome |
|
Hyperactivity, Dystonia, Paroxysmal atrial tachycardia, Mitral valve prolapse, Vestibular schwann... |
ORPHA:137605 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Arrhythmia, Ataxia, Cardiomegaly |
ORPHA:42 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Perimembranous ventricular septal defect, Card... |
OMIM:620135 |
Maternal Phenylketonuria |
|
Hypoplastic helices, Hyperactivity, Esophageal atresia, High palate |
ORPHA:2209 |
Schinzel-Giedion Syndrome |
|
Abnormality of the stapes, Streak ovary, Aganglionic megacolon, Hepatoblastoma, Dysphagia, Hypsar... |
ORPHA:798 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Hyperactivity, Thyroid lymphangiectasia, Cryptorchidism, Sensorineural hearing impairment, Rectal... |
OMIM:235510 |
Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Limb dystonia, Ataxia, Aggressive behavior, Tremor, Spastic tetraplegia, Dysmetria, Athetosis, Lo... |
ORPHA:572798 |
Cockayne Syndrome A |
|
Cerebellar atrophy, Abnormal pinna morphology, Ataxia, Abnormal auditory evoked potentials, Decre... |
OMIM:216400 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Facial hypotonia, Chorea, Athetosis, Hyperkinetic movements, Impaired oropharyngeal swallow respo... |
ORPHA:404454 |
Distal Deletion 12Q |
|
Hyperactivity, Diabetes mellitus, Unilateral cryptorchidism, Maturity-onset diabetes of the young... |
ORPHA:96149 |
Acute Bilirubin Encephalopathy |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
ORPHA:529799 |
Chronic Bilirubin Encephalopathy |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
ORPHA:529808 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
|
Hyperactivity, Posteriorly rotated ears, Cryptorchidism, Cupped ear, Optic atrophy, Protruding ea... |
OMIM:309590 |
Mulibrey Nanism |
|
Hepatomegaly, Cardiomegaly, Congestive heart failure, Myocardial fibrosis, Pericardial constriction |
OMIM:253250 |
Deafness With Labyrinthine Aplasia, Microtia, And Microdontia |
|
Hearing impairment, Sensorineural hearing impairment, Aplasia of the inner ear, Microtia, Abnorma... |
ORPHA:90024 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Ataxia, Paraparesis, Hypotonia, Choreoathetosis, Tetraparesis |
ORPHA:27 |
Cardiofaciocutaneous Syndrome 1 |
|
Posteriorly rotated ears, Submucous cleft hard palate, Optic nerve dysplasia, Tongue thrusting, A... |
OMIM:115150 |
Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Tachycardia, Ventricular septal defect, Sudden cardiac death, Cardiomegaly, Dilated... |
OMIM:614921 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
High, narrow palate, Protruding ear, High palate, Vomiting, Otitis media, Tics, Compulsive behavi... |
OMIM:619475 |
Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Cardiomegaly, Congestive heart failure, Cardiomyopathy, Mitral regurgitation, Endoc... |
OMIM:212140 |
Charcot-Marie-Tooth Disease Type 4B2 |
|
Tremor, Inability to walk, Sensorineural hearing impairment, Vocal cord paralysis, Distal sensory... |
ORPHA:99956 |
Treacher-Collins Syndrome |
|
Cryptorchidism, Tracheoesophageal fistula, Cleft palate, Glossoptosis, Microtia, High palate, Hyp... |
ORPHA:861 |
Chromosome 18Q Deletion Syndrome |
|
Tremor, Chorea, Poor coordination, Hypotonia, Generalized hypotonia |
OMIM:601808 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Diabetes mellitus, Pyloric stenosis, Aplasia/Hypoplasia of the pancreas, Abnormality of exocrine ... |
ORPHA:93111 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Papilledema, Sensorineural hearing impairment, Esophageal varix, Gastric ulcer, Abnormal temper t... |
ORPHA:2072 |
Floating-Harbor Syndrome |
|
Restlessness, Impulsivity, Aggressive behavior, Celiac disease, Cryptorchidism, Precocious pubert... |
ORPHA:2044 |
Developmental And Epileptic Encephalopathy 49 |
|
EEG abnormality, Hyperactivity, Macrotia, Optic atrophy |
OMIM:617281 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypoparathyroidism, Precocious puberty, High, narrow palate, Multifocal epileptiform discharges, ... |
ORPHA:369837 |
Developmental And Epileptic Encephalopathy 2 |
|
Hypsarrhythmia, Constipation, Gastroesophageal reflux, Abnormal repetitive mannerisms, EEG with g... |
OMIM:300672 |
Wolfram Syndrome 1 |
|
Tremor, Sensorineural hearing impairment, Ataxia, Dysphagia |
OMIM:222300 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1 |
|
Restlessness, Torticollis, Ataxia, Tremor, Rigidity, Hypotonia, Tetraparesis |
OMIM:617186 |
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome |
|
Tremor, Babinski sign, Spastic paraplegia, Tip-toe gait, Gait disturbance |
ORPHA:83629 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Nail-biting, Posteriorly rotated ears, Optic nerve hypoplasia, Aggressive behavior, Hair-pulling,... |
OMIM:620330 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Telangiectasia of the oral mucosa, Telangiectasia of the skin, Cardiomegaly, Vertigo, Lip telangi... |
ORPHA:79280 |
Acromesomelic Dysplasia 4 |
|
Third degree atrioventricular block, Low-set ears |
OMIM:619636 |
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency |
|
Cerebral palsy, Axial hypotonia, Oculogyric crisis, Parkinsonism, Tremor, Hypertonia |
ORPHA:1578 |
Arboleda-Tham Syndrome |
|
Posteriorly rotated ears, Intestinal malrotation, Anteverted ears, Bilateral cryptorchidism, Abno... |
OMIM:616268 |
Atrial Septal Defect 1 |
|
Tetralogy of Fallot with pulmonary atresia, Bicuspid aortic valve, Ventricular septal defect, Sec... |
OMIM:108800 |
Neuroleptic Malignant Syndrome |
|
Extrapyramidal muscular rigidity, Oculogyric crisis, Tremor, Chorea, Agitation, Dysphagia |
ORPHA:94093 |
Joubert Syndrome 1 |
|
Optic disc pallor, Hyperactivity, Protruding tongue, Aggressive behavior, Optic disc coloboma, Ma... |
OMIM:213300 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Hepatomegaly, Posteriorly rotated ears, Cardiomegaly, Dilated cardiomyopathy, Enlarged kidney, Lo... |
OMIM:608836 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hepatomegaly, Pulmonary arterial hypertension, Cardiomegaly |
OMIM:619064 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Aggressive behavior, Tremor, Gait ataxia, Attention deficit hyperactivity disorder, Compulsive be... |
ORPHA:476126 |
Oculocerebrorenal Syndrome Of Lowe |
|
Low-set, posteriorly rotated ears, Hyperparathyroidism, Diabetes insipidus, Malabsorption, Crypto... |
ORPHA:534 |
Intrinsic Factor Deficiency |
|
Absence of intrinsic factor |
OMIM:261000 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Posteriorly rotated ears, Cleft palate, Hypsarrhythmia, EEG abnormality, Gastroesophageal reflux,... |
OMIM:301044 |
Epidermolysis Bullosa Simplex With Pyloric Atresia |
|
Microtia, Vomiting, Congenital pyloric atresia |
ORPHA:158684 |
Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Arrhythmia, Cardiomegaly |
OMIM:255120 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Exaggerated median tongue furrow, Intestinal pseudo-obstruction, Optic nerve hypoplasia, Supernum... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Exaggerated median tongue furrow, Intestinal pseudo-obstruction, Optic nerve hypoplasia, Supernum... |
ORPHA:352665 |
Pelizaeus-Merzbacher Disease |
|
Ataxia, Hypotonia, Choreoathetosis, Dystonia, Spasticity |
ORPHA:702 |
Chromosome 15Q25 Deletion Syndrome |
|
Hyperactivity, Posteriorly rotated ears, Cryptorchidism, Cleft palate, Low-set ears, Attention de... |
OMIM:614294 |
Sandifer Syndrome |
|
Abnormal head movements, Hiatus hernia, Hematemesis, Gastroesophageal reflux, Esophagitis, Episod... |
ORPHA:71272 |
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
Precocious puberty, Cryptorchidism, Abnormal repetitive mannerisms, Attention deficit hyperactivi... |
OMIM:620073 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Tremor, Periodic paralysis |
OMIM:613239 |
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Protruding tongue, Tongue thrusting, EEG with focal epileptiform discharges, EEG abnormality, Dys... |
ORPHA:98795 |
Cutis Laxa, Autosomal Recessive, Type Iic |
|
Aortic regurgitation, Tricuspid regurgitation, Mitral valve prolapse, Right bundle branch block, ... |
OMIM:617402 |
Nijmegen Breakage Syndrome |
|
Anal stenosis, Hyperactivity, Diarrhea, Cleft palate, Recurrent otitis media, Macrotia, Recurrent... |
OMIM:251260 |
Systemic Sclerosis |
|
Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Barrett esophagus... |
ORPHA:90291 |
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency |
|
Choreoathetosis, Progressive spastic quadriplegia, Nonprogressive cerebellar ataxia, Dystonia, Ne... |
ORPHA:431361 |
Nestor-Guillermo Progeria Syndrome |
|
Left atrial enlargement, Right bundle branch block, Hypertension, Mitral regurgitation, Pulmonary... |
OMIM:614008 |
Sandhoff Disease |
|
Hepatomegaly, Orthostatic hypotension, Exaggerated startle response, Ataxia, Impaired temperature... |
OMIM:268800 |
Bone Marrow Failure Syndrome 3 |
|
Hyperactivity, Pancreatic steatosis, Cryptorchidism, Exocrine pancreatic insufficiency, Cupped ea... |
OMIM:617052 |
Monosomy 22Q13.3 |
|
Hyperactivity, Hair-pulling, Gastroesophageal reflux, Bruxism, Macrotia, Hearing impairment |
ORPHA:48652 |
Intellectual Developmental Disorder, X-Linked, Syndromic 33 |
|
Dystonia, Ataxia, Oral-pharyngeal dysphagia, Tremor, Spastic diplegia, Spasticity, Protruding ear... |
OMIM:300966 |
Wolf-Hirschhorn Syndrome |
|
Abnormal pinna morphology, Precocious puberty, Cryptorchidism, Sensorineural hearing impairment, ... |
OMIM:194190 |
Birk-Landau-Perez Syndrome |
|
Axial hypotonia, Facial hypotonia, Limb ataxia, Choreoathetosis, Appendicular hypotonia, Dystonia... |
OMIM:617595 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Impaired vibratory sensation, Somatic sensory dysfunction, Tremor, Inability to walk, Babinski si... |
ORPHA:466768 |
Immunodeficiency 82 With Systemic Inflammation |
|
Villous atrophy, Duodenal ulcer, Gastritis, Anorexia, Diarrhea, Colitis, Vomiting, Anoperineal fi... |
OMIM:619381 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Shortened QT interval, Polydipsia, Dysphagia |
ORPHA:99880 |
Mitochondrial Complex I Deficiency, Nuclear Type 28 |
|
Lower limb spasticity, Axial hypotonia, Abnormal pyramidal sign, Choreoathetosis, Truncal ataxia |
OMIM:618249 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Sudden cardiac death, Cardiomegaly, Reduced left ventricular ejection fraction, Hyp... |
OMIM:201475 |
Parathyroid Carcinoma |
|
Shortened QT interval, Polydipsia, Dysphagia |
ORPHA:143 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Exaggerated startle response, Axial hypotonia, Tremor, Fasciculations, Limb hypertonia |
OMIM:620327 |
Spondyloenchondrodysplasia |
|
Chorea, Spasticity |
ORPHA:1855 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Hyperactivity, Intestinal malrotation, Impulsivity, Aggressive behavior, Cryptorchidism, Sensorin... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Hyperactivity, Intestinal malrotation, Impulsivity, Aggressive behavior, Cryptorchidism, Sensorin... |
ORPHA:353277 |
Joubert Syndrome With Renal Defect |
|
Low-set, posteriorly rotated ears, Ataxia, Tremor, Gait disturbance, Oculomotor apraxia |
ORPHA:220497 |
Joubert Syndrome |
|
Ataxia, Tremor, Gait disturbance, Low-set ears, Oculomotor apraxia |
ORPHA:475 |
Dubowitz Syndrome |
|
Hyperactivity, Cryptorchidism, Velopharyngeal insufficiency, Submucous cleft hard palate, Chronic... |
OMIM:223370 |
Coffin-Siris Syndrome 1 |
|
Posteriorly rotated ears, Abnormal pinna morphology, Intestinal malrotation, Duodenal ulcer, Aggr... |
OMIM:135900 |
Supranuclear Palsy, Progressive, 1 |
|
Eyelid apraxia, Axial dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Dysphagia, Bradykinesia... |
OMIM:601104 |
Craniofaciofrontodigital Syndrome |
|
Gastrointestinal hemorrhage, Persistent fetal circulation, Bicuspid aortic valve, Ventricular sep... |
ORPHA:363705 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Cryptorchidism, Chronic diarrhea, EEG abnormality, Chronic constipation, High palate, Attention d... |
OMIM:619005 |
Catastrophic Antiphospholipid Syndrome |
|
Chorea |
ORPHA:464343 |
Fucosidosis |
|
Hepatomegaly, Cardiomegaly, Hearing impairment |
ORPHA:349 |
Immunodeficiency 57 With Autoinflammation |
|
Perianal abscess, Inflammation of the large intestine, Gastritis, Diarrhea |
OMIM:618108 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Intestinal malrotation, Hiatus hernia, Precocious puberty, Cryptorchidism, Encopresis, Gastroesop... |
OMIM:616682 |
Mercury Poisoning |
|
Tremor, Anorexia, Dystonia |
ORPHA:330021 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Splenomegaly, Sensorineural hearing impair... |
OMIM:602782 |
Hyperoxaluria, Primary, Type I |
|
Optic neuropathy, Raynaud phenomenon, Arterial occlusion, Optic atrophy, Atrioventricular block, ... |
OMIM:259900 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Optic disc pallor, Perimembranous ventricular septal defect, Cardiomegaly |
OMIM:619170 |
Lethal Congenital Contracture Syndrome 10 |
|
Torticollis, Overriding aorta, Ventricular septal defect, Cardiomegaly, Low-set ears |
OMIM:617022 |
Hardikar Syndrome |
|
Decreased serum insulin-like growth factor 1, Cleft soft palate, Intestinal malrotation, Celiac d... |
OMIM:301068 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Macroorchidism, Thickened helices, Cleft soft palate, Impulsivity, Precocious puberty, High, narr... |
OMIM:619950 |
Gabriele-De Vries Syndrome |
|
Waddling gait, Dystonia, Posteriorly rotated ears, Tremor, Tip-toe gait, Attention deficit hypera... |
OMIM:617557 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Subcortical cerebral atrophy, Macrotia, Cardiomegaly, Mucosal telangiectasiae |
ORPHA:2463 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Optic nerve hypoplasia, Facial palsy, Hearing impairment, Abnormal optic disc morphology, Abnorma... |
ORPHA:508498 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Portal hypertension, Cardiomegaly, Congestive heart failure, Splenomegaly, Cardiomy... |
ORPHA:465508 |
Fucosidosis |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Cerebral atrophy, Low-set ears, Dystonia, Hearing impai... |
OMIM:230000 |
Heart Block, Congenital |
|
Atrioventricular block, Myocardial fibrosis, Absent atrioventricular node, Myocardial calcificati... |
OMIM:234700 |
Early Infantile Epileptic Encephalopathy |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Hyperactivity, EEG with spike-wave complexes, Tremo... |
ORPHA:1934 |
Ogden Syndrome |
|
Bicuspid aortic valve, Cardiomegaly, Secundum atrial septal defect, Ventricular tachycardia, Prot... |
OMIM:300855 |
Heterotaxy, Visceral, 1, X-Linked |
|
Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defect, Atrioventricular c... |
OMIM:306955 |
Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Cardiomegaly, Diffuse alveolar hemorrhage, Heart murmur, Hepatosplenomegaly |
ORPHA:99931 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly |
ORPHA:88643 |
Primrose Syndrome |
|
Restlessness, Calcification of the auricular cartilage, Diabetes mellitus, Hypergonadotropic hypo... |
OMIM:259050 |
Mental Retardation, Keratoconus, Febrile Seizures, And Sinoatrial Block |
|
Sinoatrial block, Abnormal electrophysiology of sinoatrial node origin |
OMIM:609438 |
Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Tricuspid regurgitation, Cardiomegaly, Pericardial effusion, Anomalous pulmonary ve... |
ORPHA:555874 |
Insensitivity To Pain, Congenital, With Anhidrosis |
|
Hyperactivity, Pain insensitivity, Abnormal autonomic nervous system physiology, Postural hypoten... |
OMIM:256800 |
Severe Oculo-Renal-Cerebellar Syndrome |
|
Choreoathetosis, Hypotonia, Spasticity, Spastic diplegia |
ORPHA:2715 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Myocarditis, Arrhythmia, Atrioventricular block |
ORPHA:93317 |
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Tremor, Ataxia |
ORPHA:713 |
Multiple System Atrophy 1, Susceptibility To |
|
Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia |
OMIM:146500 |
Prader-Willi Syndrome Due To Translocation |
|
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Decreased response to growth hormon... |
ORPHA:177907 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Aortic regurgitation, Hyperactivity, Posteriorly rotated ears, Ventricular septal defect, Pulmoni... |
OMIM:607721 |
Hepatoportal Sclerosis |
|
Gastrointestinal hemorrhage, Esophageal varix, Gastric varix, Hepatocellular carcinoma |
ORPHA:64743 |
Familial Aortic Dissection |
|
Aortic regurgitation, Abnormal left ventricular function, Cardiomegaly |
ORPHA:229 |
Mend Syndrome |
|
Hyperactivity, Posteriorly rotated ears, Cryptorchidism, High palate, Low-set ears, Overfolded helix |
OMIM:300960 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Posteriorly rotated ears, Cryptorchidism, Hydrocele testis, Microtia, High palate, Low-set ears, ... |
OMIM:619522 |
Scimitar Syndrome |
|
Left-to-right shunt, Ventricular septal defect, Dextrocardia, Mitral atresia, Heart block, Conges... |
ORPHA:185 |
Multiple Endocrine Neoplasia Type 1 |
|
Anorexia, Shortened QT interval, Hematemesis, Cranial nerve compression, Melena, Hypertension |
ORPHA:652 |
Menkes Disease |
|
Chorea, Hypertonia, Hypotonia, Spasticity |
ORPHA:565 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Cardiomegaly, Heart block, Cardiomyopathy, Abnormal myocardium morphology, Arrhythmia |
ORPHA:228308 |
Leptospirosis |
|
Papilledema, Pericarditis, Hepatomegaly, First degree atrioventricular block, Anorexia, Retinal h... |
ORPHA:509 |
Xeroderma Pigmentosum, Complementation Group A |
|
Choreoathetosis, Spasticity, Ataxia, Distal sensory impairment |
OMIM:278700 |
Holoprosencephaly |
|
Chorea, Hypotonia, Spasticity, Dystonia |
ORPHA:2162 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Sensorineural hearing impairment, Protruding ear, Self-injurious behavior, High palate, Low-set e... |
OMIM:612474 |
Pseudo-Torch Syndrome 3 |
|
Hypertension, Cerebral hemorrhage, Cardiomegaly |
OMIM:618886 |
Aorta Coarctation |
|
Bicuspid aortic valve, Cardiomegaly, Congestive heart failure, Aortic valve atresia, Hypertension... |
ORPHA:1457 |
Ataxia-Telangiectasia |
|
Ataxia, Tremor, Slurred speech, Choreoathetosis, Progressive cerebellar ataxia, Dysdiadochokinesi... |
OMIM:208900 |
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1 |
|
Hyperactivity, Posteriorly rotated ears, Protruding tongue, Cryptorchidism, Sensorineural hearing... |
OMIM:309580 |
Arteriosclerosis, Severe Juvenile |
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Gastric ulcer, Delayed puberty |
OMIM:208060 |
Tyrosinemia Type 2 |
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Tremor, Ataxia |
ORPHA:28378 |
Hyperthyroidism, Nonautoimmune |
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Hyperactivity, Tachycardia, Small for gestational age |
OMIM:609152 |
Aicardi-Goutières Syndrome |
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Dystonia, Cardiomegaly, Raynaud phenomenon, Tremor, Hepatosplenomegaly, Degeneration of the stria... |
ORPHA:51 |
Bohring-Opitz Syndrome |
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Low-set, posteriorly rotated ears, Cardiomegaly, Optic atrophy, Abnormal cardiac septum morpholog... |
ORPHA:97297 |
Cantu Syndrome |
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Pericardial effusion, Congenital hypertrophy of left ventricle, Bicuspid aortic valve, Cardiomegaly |
OMIM:239850 |
Mowat-Wilson Syndrome |
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Uplifted earlobe, Cleft hard palate, Gastrointestinal dysmotility, Vomiting, Conductive hearing i... |
ORPHA:2152 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
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Nail-biting, Pain insensitivity, Orthostatic hypotension due to autonomic dysfunction, Somatic se... |
ORPHA:642 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
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Bicuspid aortic valve, Cardiomegaly, Patent foramen ovale, Mitral valve prolapse, Microtia, Low-s... |
OMIM:245600 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
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Cerebellar atrophy, Tricuspid regurgitation, Cerebral atrophy, Cardiomegaly |
OMIM:620306 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
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Hyperactivity, Small for gestational age, Hand tremor, Weight loss, Agitation |
ORPHA:424 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
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Posteriorly rotated ears, Aganglionic megacolon, Uplifted earlobe, Bowel incontinence, Cleft hard... |
ORPHA:261537 |
Mucolipidosis Ii Alpha/Beta |
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Aortic regurgitation, Hepatomegaly, Cardiomegaly, Congestive heart failure, Splenomegaly, Heart m... |
OMIM:252500 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
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Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Impulsivity, Cardiomega... |
OMIM:300967 |
Microgastria-Limb Reduction Defect Syndrome |
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Intestinal malrotation, Hiatus hernia, Esophageal atresia, Rectal atresia, Tracheoesophageal fist... |
ORPHA:2538 |
Arterial Calcification, Generalized, Of Infancy, 1 |
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Myocardial infarction, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Hypertension |
OMIM:208000 |
Viss Syndrome |
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Chronic gastritis, High, narrow palate, High palate, Gastroesophageal reflux, Broad uvula, Hypoth... |
OMIM:619472 |
Immunodeficiency 87 And Autoimmunity |
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Hepatomegaly, Dilated cardiomyopathy, Biventricular hypertrophy, Hypertension, Third degree atrio... |
OMIM:619573 |
De Sanctis-Cacchione Syndrome |
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Ataxia, Babinski sign, Scissor gait, Choreoathetosis, Hypertonia, Spasticity |
OMIM:278800 |
Xeroderma Pigmentosum, Complementation Group D |
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Choreoathetosis, Spasticity, Ataxia |
OMIM:278730 |
Zygomycosis |
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Gastrointestinal hemorrhage, Diabetes mellitus, Gastritis, Hematemesis, Diarrhea, Peritonitis, En... |
ORPHA:73263 |
Oculopharyngodistal Myopathy 1 |
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Ataxia, Tremor, Sensorineural hearing impairment, Difficulty walking, Dysphagia |
OMIM:164310 |
Beckwith-Wiedemann Syndrome |
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Hepatomegaly, Cardiomegaly, Pancreatic hyperplasia, Cardiomyopathy, Posterior helix pit, Enlarged... |
OMIM:130650 |
3-Methylglutaconic Aciduria, Type Viii |
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Clonus, Tremor, Hypotonia, Dysphagia, Hypertonia, Generalized hypotonia, Dystonia |
OMIM:617248 |
Abetalipoproteinemia |
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Impaired vibratory sensation, Hepatomegaly, Ataxia, Impaired distal proprioception, Cardiomegaly,... |
ORPHA:14 |
Microphthalmia, Syndromic 1 |
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Abnormal pinna morphology, Aganglionic megacolon, Aggressive behavior, High, narrow palate, Recta... |
OMIM:309800 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
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Posteriorly rotated ears, Aganglionic megacolon, Uplifted earlobe, Bowel incontinence, Cleft hard... |
ORPHA:261552 |
Primary Hyperoxaluria |
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Optic disc pallor, Heart block, Raynaud phenomenon, Arterial occlusion, Optic atrophy, Cardiomyop... |
ORPHA:416 |
Familial Gestational Hyperthyroidism |
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Hyperactivity, Agitation, Hand tremor, Weight loss |
ORPHA:99819 |
Gaucher Disease, Type Iiic |
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Hepatomegaly, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve calcification,... |
OMIM:231005 |
Double Outlet Left Ventricle |
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Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, ... |
ORPHA:3427 |
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets |
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Esophageal ulceration, Gastric ulcer, Duodenal ulcer |
OMIM:618372 |
Generalized Arterial Calcification Of Infancy |
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Ventricular hypertrophy, Stapes ankylosis, Mixed hearing impairment, Calcification of the auricul... |
ORPHA:51608 |
Brucellosis |
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Chorea, Anorexia |
ORPHA:1304 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
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Aortic regurgitation, Transient ischemic attack, Bicuspid aortic valve, Subarachnoid hemorrhage, ... |
ORPHA:91387 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
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Congenital Horner syndrome, Decreased response to growth hormone stimulation test, Cleft soft pal... |
OMIM:619503 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
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Hepatomegaly, Cardiomegaly, Congestive heart failure, Splenomegaly, Recurrent otitis media, Arrhy... |
OMIM:256040 |
Cantú Syndrome |
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Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly |
ORPHA:1517 |
Yunis-Varon Syndrome |
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Abnormal pinna morphology, Ventricular septal defect, Cardiomegaly, Tetralogy of Fallot, Renovasc... |
ORPHA:3472 |
Systemic Lupus Erythematosus |
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Chorea |
ORPHA:536 |
Tuberous Sclerosis Complex |
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Hyperactivity, Impulsivity, Aggressive behavior, Repetitive compulsive behavior, Pituitary adenom... |
ORPHA:805 |
Paternal Uniparental Disomy Of Chromosome 6 |
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Hepatomegaly, Ventricular septal defect, Abnormal earlobe morphology, Cardiomegaly |
ORPHA:96191 |
Sickle Cell Disease |
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Splenomegaly, Hypertension, Cardiomegaly, Hepatomegaly |
OMIM:603903 |
Truncus Arteriosus |
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Aortic regurgitation, Tachycardia, Ventricular septal defect, Abnormal heart valve morphology, Ca... |
ORPHA:3384 |
Primary Sjögren Syndrome |
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Chorea, Somatic sensory dysfunction |
ORPHA:289390 |
Beckwith-Wiedemann Syndrome |
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Otosclerosis, Hepatomegaly, Cardiomegaly, Splenomegaly, Abnormal earlobe morphology, Anterior cre... |
ORPHA:116 |
Proteus Syndrome |
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Sudden cardiac death, Pulmonary embolism, Enlarged polycystic ovaries, Splenomegaly, Low-set ears... |
ORPHA:744 |
Congenital Total Pulmonary Venous Return Anomaly |
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Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Atrial s... |
ORPHA:99125 |
Liver Disease, Severe Congenital |
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Atrial septal defect, Hepatomegaly, Ventricular septal defect, Left atrial enlargement, Cardiomeg... |
OMIM:619991 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
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Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Brain atrophy, Dystonia |
OMIM:618278 |
Congenital Tracheomalacia |
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Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous return, Abnormal hear... |
ORPHA:95430 |
Lowe Oculocerebrorenal Syndrome |
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Cryptorchidism, Abnormal repetitive mannerisms, Constipation, Aggressive behavior |
OMIM:309000 |
Singleton-Merten Syndrome 1 |
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Mitral valve calcification, Cardiomegaly, Congestive heart failure, Aortic valve calcification, S... |
OMIM:182250 |