Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
Pheochromocytoma/Paraganglioma Syndrome 6 |
|
Elevated circulating catecholamine level, Paraganglioma |
OMIM:618464 |
Jervell And Lange-Nielsen Syndrome 1 |
|
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval |
OMIM:220400 |
Long Qt Syndrome 2 |
|
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... |
OMIM:613688 |
Long Qt Syndrome 10 |
|
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, T-wave alternans, Atrioventricu... |
OMIM:611819 |
Long Qt Syndrome 13 |
|
Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri... |
OMIM:613485 |
Long Qt Syndrome 6 |
|
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... |
OMIM:613693 |
Long Qt Syndrome 1 |
|
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval,... |
OMIM:192500 |
Long Qt Syndrome 14 |
|
Prolonged QT interval, 2:1 atrioventricular block, Cardiac arrest, T-wave alternans, Prolonged QT... |
OMIM:616247 |
Atrial Fibrillation, Familial, 9 |
|
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Syncope, Palpitations, Prolonged Q... |
OMIM:613980 |
Huntington Disease |
|
Caudate atrophy, Oral-pharyngeal dysphagia, Chorea, Compulsive behaviors, Decreased body mass ind... |
ORPHA:399 |
Long Qt Syndrome 11 |
|
Syncope, Prolonged QTc interval |
OMIM:611820 |
Atrial Fibrillation, Familial, 3 |
|
Paroxysmal atrial fibrillation, Atrial fibrillation, Sudden cardiac death, Permanent atrial fibri... |
OMIM:607554 |
Brugada Syndrome 9 |
|
Prolonged QT interval, ST segment elevation, Palpitations, Presyncope |
OMIM:616399 |
Long Qt Syndrome 16 |
|
Patent ductus arteriosus after birth at term, T-wave alternans, Second degree atrioventricular bl... |
OMIM:618782 |
Young-Onset Parkinson Disease |
|
Short attention span, Restless legs, Gastroparesis, Impulsivity, Diarrhea, Depression, Frontal lo... |
ORPHA:2828 |
Long Qt Syndrome 9 |
|
Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a... |
OMIM:611818 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric... |
OMIM:614021 |
Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
Parkinsonism With Spasticity, X-Linked |
|
Resting tremor, Parkinsonism, Babinski sign, Cogwheel rigidity, Bradykinesia, Spasticity |
OMIM:300911 |
Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... |
OMIM:260300 |
Dystonia 16 |
|
Torticollis, Postural tremor, Parkinsonism, Abnormal pyramidal sign, Bradykinesia, Dysphagia |
ORPHA:210571 |
Sick Sinus Syndrome 1 |
|
Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br... |
OMIM:608567 |
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness |
|
Prolonged QT interval, Shock, Cardiac arrest, Polymorphic ventricular tachycardia, Premature vent... |
OMIM:615441 |
Jervell And Lange-Nielsen Syndrome 2 |
|
Prolonged QT interval, Sudden cardiac death, Premature ventricular contraction, Syncope, Torsade ... |
OMIM:612347 |
Progressive Familial Heart Block, Type Ib |
|
Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... |
OMIM:604559 |
Autosomal Dominant Striatal Neurodegeneration |
|
Rigidity, Dysdiadochokinesis, Bradykinesia, Dysphagia |
ORPHA:228169 |
Cardiac Arrhythmia, Ankyrin-B-Related |
|
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope |
OMIM:600919 |
Hernia, Anterior Diaphragmatic |
|
Neonatal death |
OMIM:306950 |
Lethal Congenital Contracture Syndrome 3 |
|
Neonatal death |
OMIM:611369 |
Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Neonatal death |
OMIM:226735 |
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... |
OMIM:616117 |
Long Qt Syndrome 12 |
|
Syncope, Prolonged QTc interval, Ventricular fibrillation, Torsade de pointes |
OMIM:612955 |
Parkinson Disease 11, Autosomal Dominant, Susceptibility To |
|
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk... |
OMIM:607688 |
Parkinson Disease 13, Autosomal Dominant, Susceptibility To |
|
Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia |
OMIM:610297 |
Dystonia 16 |
|
Postural tremor, Parkinsonism, Involuntary movements, Abnormal pyramidal sign, Bradykinesia, Retr... |
OMIM:612067 |
Long Qt Syndrome 5 |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven... |
OMIM:613695 |
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome |
|
Impaired vibratory sensation, Gastroparesis, Intestinal pseudo-obstruction, Impaired distal propr... |
ORPHA:70595 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 8 |
|
Severe temper tantrums, Spastic tetraparesis, Abnormal pyramidal sign, Bradykinesia, Spastic gait |
OMIM:619052 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Apraxia, Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyramidal sign, Bradykin... |
ORPHA:240103 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Intestinal pseudo-obstruction, Impaired distal proprioception, Dysmetria, Gait ataxia, Progressiv... |
OMIM:607459 |
Dystonia, Dopa-Responsive |
|
Resting tremor, Torticollis, Incoordination, Postural tremor, Babinski sign, Parkinsonism with fa... |
OMIM:128230 |
Dystonia 12 |
|
Torticollis, Parkinsonism, Tremor, Bradykinesia, Dysphagia |
OMIM:128235 |
Atrial Fibrillation, Familial, 7 |
|
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad... |
OMIM:612240 |
Pyknoachondrogenesis |
|
Stillbirth |
OMIM:265880 |
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination |
|
Broad nasal tip, Cerebral atrophy, Feeding difficulties, Irritability, Gastroesophageal reflux, D... |
OMIM:617393 |
Parkinson Disease 5, Autosomal Dominant, Susceptibility To |
|
Rigidity, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia |
OMIM:613643 |
Parkinson Disease 22, Autosomal Dominant |
|
Restless legs, Resting tremor, Rigidity, Bradykinesia, Parkinsonism with favorable response to do... |
OMIM:616710 |
Kleine-Levin Syndrome |
|
Confusion, Poor appetite, Abnormal eating behavior, Repetitive compulsive behavior, Hypersexualit... |
ORPHA:33543 |
Long Qt Syndrome 15 |
|
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... |
OMIM:616249 |
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive |
|
Ataxia, Parkinsonism, Chorea, Abnormal pyramidal sign, Slurred speech, Dysmetria, Bradykinesia, D... |
OMIM:618317 |
Spinocerebellar Ataxia Type 20 |
|
Isometric tremor, Kinetic tremor, Ataxia, Upper limb postural tremor, Abnormal pyramidal sign, Ga... |
ORPHA:101110 |
Long Qt Syndrome 8 |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolonged QTc int... |
OMIM:618447 |
Leukoencephalopathy, Motor Delay, Spasticity, And Dysarthria Syndrome |
|
Bradykinesia, Lower limb spasticity, Attention deficit hyperactivity disorder |
OMIM:618878 |
Spinocerebellar Ataxia Type 12 |
|
Ataxia, Parkinsonism, Postural tremor, Action tremor, Abnormal pyramidal sign, Bradykinesia, Poor... |
ORPHA:98762 |
Sick Sinus Syndrome 4 |
|
Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation... |
OMIM:619464 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Impaired te... |
ORPHA:98793 |
Long Qt Syndrome 3 |
|
Ventricular flutter, Sudden cardiac death, Ventricular tachycardia, Syncope, Torsade de pointes, ... |
OMIM:603830 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Impaired te... |
ORPHA:177904 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Impaired te... |
ORPHA:98754 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Impaired te... |
ORPHA:177901 |
Rapid-Onset Dystonia-Parkinsonism |
|
Resting tremor, Torticollis, Parkinsonism, Gait ataxia, Bradykinesia, Dysphagia |
ORPHA:71517 |
Spinocerebellar Ataxia 17 |
|
Ataxia, Parkinsonism, Aggressive behavior, Rigidity, Chorea, Dysmetria, Gait ataxia, Limb ataxia,... |
OMIM:607136 |
Juvenile Huntington Disease |
|
Hyperactivity, Ataxia, Rigidity, Chorea, Gait ataxia, Weight loss, Bradykinesia, Progressive cere... |
ORPHA:248111 |
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures |
|
Emotional lability, Abnormal repetitive mannerisms, Agitation, Aggressive behavior |
OMIM:617171 |
Spastic Paraplegia 78, Autosomal Recessive |
|
Resting tremor, Ataxia, Parkinsonism, Aggressive behavior, Babinski sign, Abnormal pyramidal sign... |
OMIM:617225 |
Autism, Susceptibility To, X-Linked 3 |
|
Inflexible adherence to routines, Restrictive behavior, Abnormal repetitive mannerisms, Increased... |
OMIM:300496 |
Autism, Susceptibility To, X-Linked 1 |
|
Inflexible adherence to routines, Restrictive behavior, Abnormal repetitive mannerisms, Increased... |
OMIM:300425 |
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy |
|
Ataxia, Rigidity, Bradykinesia, Fasciculations, Spasticity |
OMIM:183050 |
Idiopathic Congenital Hypothyroidism |
|
Hypothermia, Elevated circulating thyroid-stimulating hormone concentration, Increased radioactiv... |
ORPHA:95717 |
Chromosome 15Q11-Q13 Duplication Syndrome |
|
Restrictive behavior, Unsteady gait, Increased serum serotonin, Truncal ataxia, Abnormal repetiti... |
OMIM:608636 |
Hyperphenylalaninemia, Bh4-Deficient, A |
|
Small for gestational age, Ataxia, Parkinsonism, Tremor, Rigidity, Choreoathetosis, Bradykinesia,... |
OMIM:261640 |
Cardiomyopathy, Dilated, 1D |
|
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... |
OMIM:601494 |
Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Tremor, Rigidity, Parkinsonism, Bradykinesia |
OMIM:600116 |
Lopes-Maciel-Rodan Syndrome |
|
Tremor, Abnormal pyramidal sign, Bruxism, Ankle clonus, Bradykinesia, Hypertonia, Agitation, Dysp... |
OMIM:617435 |
Sick Sinus Syndrome 2 |
|
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... |
OMIM:163800 |
Spinocerebellar Ataxia, Autosomal Recessive 32 |
|
Torticollis, Postural tremor, Limb ataxia, Gait ataxia, Bradykinesia, Dysphagia, Limb myoclonus |
OMIM:619862 |
Autism, Susceptibility To, 8 |
|
Inflexible adherence to routines, Restrictive behavior, Abnormal repetitive mannerisms, Increased... |
OMIM:607373 |
Autism |
|
Inflexible adherence to routines, Restrictive behavior, Abnormal repetitive mannerisms, Increased... |
OMIM:209850 |
Parkinsonism-Dystonia 1, Infantile-Onset |
|
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cogwheel rigidity, Bradykinesia,... |
OMIM:613135 |
Parkinson Disease 6, Autosomal Recessive Early-Onset |
|
Rigidity, Resting tremor, Bradykinesia, Parkinsonism |
OMIM:605909 |
Autosomal Dominant Spastic Paraplegia Type 3 |
|
Lower limb spasticity, Rigidity, Babinski sign, Bradykinesia, Ankle clonus, Lower limb hypertonia... |
ORPHA:100984 |
Striatal Degeneration, Autosomal Dominant 1 |
|
Rigidity, Dysdiadochokinesis, Slurred speech, Bradykinesia |
OMIM:609161 |
Cardiomyopathy, Familial Hypertrophic, 26 |
|
Atrial fibrillation, Sudden cardiac death, Congestive heart failure, Permanent atrial fibrillatio... |
OMIM:617047 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6 |
|
Bradykinesia, Lethargy, Chorea, Ataxia |
OMIM:618683 |
Brugada Syndrome 3 |
|
Atrial fibrillation, J wave, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular ar... |
OMIM:611875 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Gastroparesis, Hypergonadotropic hypogonadism, Impaired distal proprioception, Impaired distal vi... |
OMIM:157640 |
Basal Ganglia Calcification, Idiopathic, 1 |
|
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Bradykinesia, Athetosis, Dysdiad... |
OMIM:213600 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type |
|
Parkinsonism, Rigidity, Babinski sign, Slurred speech, Bradykinesia, Apraxia, Spasticity, Action ... |
OMIM:300423 |
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Myoclonus, Parkinsonism with favo... |
ORPHA:314632 |
N-Acetylaspartate Deficiency |
|
Short attention span, Broad-based gait, Unsteady gait, Truncal ataxia, Decreased body weight, Abn... |
OMIM:614063 |
Romano-Ward Syndrome |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Abnormal T-wave, Prolonged ... |
ORPHA:101016 |
Behavioral Variant Of Frontotemporal Dementia |
|
Restrictive behavior, Collectionism, Restlessness, Aggressive behavior, Frontotemporal dementia, ... |
ORPHA:275864 |
Spastic Paraplegia 80, Autosomal Dominant |
|
Lower limb spasticity, Babinski sign, Spastic paraplegia, Limb ataxia, Bradykinesia, Upper limb s... |
OMIM:618418 |
Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Tremor, Rigidity, Neuromuscular dysphagia, Bradykinesia, Parkinsonism with favorable response to ... |
ORPHA:240085 |
Huntington Disease-Like 2 |
|
Rigidity, Chorea, Weight loss, Bradykinesia, Action tremor |
OMIM:606438 |
Familial Short Qt Syndrome |
|
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... |
ORPHA:51083 |
Delayed Encephalopathy Due To Carbon Monoxide Poisoning |
|
Rigidity, Bradykinesia |
ORPHA:306686 |
Short Qt Syndrome 1 |
|
Paroxysmal atrial fibrillation, Cardiac arrest, Sudden cardiac death, Shortened QT interval, Sync... |
OMIM:609620 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Cerebellar atrophy, Hyperthyroidism, Gastroparesis, Ataxia, Diabetes mellitus, Gait ataxia, Depre... |
ORPHA:254892 |
Prader-Willi Syndrome |
|
Decreased response to growth hormone stimulation test, Impaired temperature sensation, Nasogastri... |
ORPHA:739 |
Parkinson Disease 19A, Juvenile-Onset |
|
Parkinsonism, Rigidity, Abnormal pyramidal sign, Pill-rolling tremor, Bradykinesia, Spasticity, L... |
OMIM:615528 |
Leber Optic Atrophy And Dystonia |
|
Bradykinesia, Athetosis, Dysphagia, Spasticity, Upper motor neuron dysfunction |
OMIM:500001 |
Neurodegeneration With Brain Iron Accumulation 6 |
|
Rigidity, Spastic tetraplegia, Bradykinesia, Compulsive behaviors, Spastic paraparesis, Motor tics |
OMIM:615643 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Resting tremor, Incoordination, Ataxia, Aggressive behavior, Tremor, Paraparesis, Babinski sign, ... |
OMIM:615157 |
Parkinsonism With Polyneuropathy |
|
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk... |
OMIM:619279 |
Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Parkinsonism, Tremor, Babinski sign, Scissor gait, Ankle clonus, Bradykinesia, Spasticity |
ORPHA:521406 |
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive |
|
Parkinsonism, Rigidity, Babinski sign, Limb ataxia, Bradykinesia, Hypertonia |
OMIM:618824 |
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Gastroparesis, Intestinal pseudo-obstruction, Cachexia, Abdominal pain, Hypoesthesia, Diarrhea, G... |
OMIM:603041 |
Pandas |
|
Anorexia, Impulsivity, Abnormal fear-induced behavior, Encopresis, Chorea, Depression, Irritabili... |
ORPHA:66624 |
Beta-Propeller Protein-Associated Neurodegeneration |
|
Parkinsonism, Aggressive behavior, Tremor, Rigidity, Bradykinesia, Spastic paraparesis |
ORPHA:329284 |
Congenital Heart Block |
|
First degree atrioventricular block, Gallop rhythm, Congestive heart failure, Patent ductus arter... |
ORPHA:60041 |
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1 |
|
Parkinsonism, Rigidity, Dysphagia, Bradykinesia, Apraxia, Spasticity |
OMIM:221820 |
Hyperphenylalaninemia, Mild, Non-Bh4-Deficient |
|
Parkinsonism, Bradykinesia, Hypertonia, Attention deficit hyperactivity disorder, Limb hypertonia |
OMIM:617384 |
Cyanide-Induced Parkinsonism-Dystonia |
|
Rigidity, Resting tremor, Bradykinesia, Parkinsonism |
ORPHA:306692 |
Hereditary Late-Onset Parkinson Disease |
|
Lewy bodies, Akinesia, Impulsivity, Depression, Weight loss, Chronic constipation, Bradykinesia, ... |
ORPHA:411602 |
Familial Thyroid Dyshormonogenesis |
|
Positive perchlorate discharge test, Thyroid defect in oxidation and organification of iodide, Hy... |
ORPHA:95716 |
Autosomal Recessive Dopa-Responsive Dystonia |
|
Ataxia, Parkinsonism, Postural tremor, Rigidity, Babinski sign, Gait ataxia, Bradykinesia, Abnorm... |
ORPHA:101150 |
Pick Disease Of Brain |
|
Frontotemporal dementia, Abnormal repetitive mannerisms, Irritability, Disinhibition, Inappropria... |
OMIM:172700 |
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Restlessness, Ataxia, Clonus, Rigidity, Chorea, Opisthotonus, Choreoathetosis, Bradykinesia, Hype... |
ORPHA:13 |
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Gastroparesis, Bowel incontinence, Inability to walk, Cerebral atrophy, Gait ataxia, Choreoatheto... |
OMIM:618877 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Restlessness, Resting tremor, Ataxia, Parkinsonism, Tremor, Babinski sign, Spastic paraplegia, Ob... |
OMIM:300055 |
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Bradykinesia, Self-injurious behavi... |
OMIM:619827 |
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Frontotemporal dementia, Disinhibition, Dysphagia, Emotional labil... |
OMIM:612069 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Cerebellar atrophy, Broad-based gait, Dysphagia, Gait ataxia, Atrophy/Degeneration affecting the ... |
OMIM:617862 |
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities |
|
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Feeding difficulties |
OMIM:617787 |
Sinoatrial Node Dysfunction And Deafness |
|
Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia |
OMIM:614896 |
Jervell And Lange-Nielsen Syndrome |
|
Syncope, Torsade de pointes, Arrhythmia, Prolonged QTc interval, Ventricular fibrillation |
ORPHA:90647 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Abnormal repetitive mannerisms, Ataxia, Abnormality of neuronal migration, Attention deficit hype... |
OMIM:618709 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Left ventricular diastolic dysfun... |
OMIM:618052 |
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Resting tremor, Ataxia, Parkinsonism, Chorea, Cogwheel rigidity, Bradykinesia, Myoclonus, Attenti... |
OMIM:619725 |
Huntington Disease-Like 1 |
|
Restlessness, Incoordination, Involuntary movements, Chorea, Slurred speech, Dysmetria, Gait atax... |
ORPHA:157941 |
Spinocerebellar Ataxia 10 |
|
Incoordination, Babinski sign, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Limb ataxia, Brad... |
OMIM:603516 |
Riboflavin Deficiency |
|
Lethargy, Hypothermia |
OMIM:615026 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Neonatal death |
OMIM:257100 |
Kufor-Rakeb Syndrome |
|
Torticollis, Ataxia, Parkinsonism, Aggressive behavior, Tremor, Rigidity, Paraparesis, Babinski s... |
OMIM:606693 |
Short Qt Syndrome 7 |
|
Cardiac arrest, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular fibrillation |
OMIM:620231 |
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Failure to thrive in infancy, Broad nasal tip, Feeding difficulties in infancy, Aggressive behavi... |
OMIM:613670 |
Xq28 (MECP2) duplication |
|
Depressed nasal bridge, Feeding difficulties in infancy, Inability to walk, Gait ataxia, Depressi... |
DECIPHER:45 |
Huntington Disease |
|
Rigidity, Chorea, Bradykinesia, Gait ataxia |
OMIM:143100 |
Corticobasal Syndrome |
|
Speech apraxia, Parkinsonism, Limb apraxia, Involuntary movements, Tremor, Oromotor apraxia, Brad... |
ORPHA:454887 |
Gerstmann-Straussler Disease |
|
Parkinsonism, Aggressive behavior, Tremor, Rigidity, Limb ataxia, Weight loss, Gait ataxia, Brady... |
OMIM:137440 |
Short Qt Syndrome 2 |
|
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul... |
OMIM:609621 |
Hereditary Central Diabetes Insipidus |
|
Lethargy, Polydipsia, Irritability |
ORPHA:30925 |
Incessant Infant Ventricular Tachycardia |
|
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge... |
ORPHA:45453 |
Infantile Dystonia-Parkinsonism |
|
Cerebral palsy, Parkinsonism, Chorea, Abnormal pyramidal sign, Bradykinesia, Hypertonia, Limb hyp... |
ORPHA:238455 |
Parkinson Disease 17 |
|
Resting tremor, Parkinsonism, Tremor, Rigidity, Bradykinesia |
OMIM:614203 |
Neurodegeneration With Brain Iron Accumulation 3 |
|
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Choreoathetosis, Blepharospasm, Br... |
OMIM:606159 |
Spinocerebellar Ataxia 2 |
|
Ataxia, Parkinsonism, Postural tremor, Rigidity, Babinski sign, Dysmetria, Limb ataxia, Bradykine... |
OMIM:183090 |
2-Methylbutyryl-Coa Dehydrogenase Deficiency |
|
Lethargy, Hypothermia |
OMIM:610006 |
Mgat2-Cdg |
|
Gastroparesis, Abnormality of the endocrine system, Low hanging columella, Patent ductus arterios... |
ORPHA:79329 |
Fragile X Tremor/Ataxia Syndrome |
|
Resting tremor, Postural tremor, Parkinsonism, Action tremor, Dysmetria, Gait ataxia, Bradykinesi... |
OMIM:300623 |
Tako-Tsubo Cardiomyopathy |
|
Prolonged QT interval, Atrial fibrillation, Mildly reduced left ventricular ejection fraction, An... |
ORPHA:66529 |
Cln3 Disease |
|
Extrapyramidal muscular rigidity, Ataxia, Aggressive behavior, Increased circulating androgen con... |
ORPHA:228346 |
Intellectual Developmental Disorder, Autosomal Recessive 73 |
|
Impulsivity, Patent ductus arteriosus, Feeding difficulties, Gait ataxia, Irritability, Recurrent... |
OMIM:619717 |
Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract |
|
Broad nasal tip, Feeding difficulties in infancy, Cerebral atrophy, Irritability, Failure to thri... |
ORPHA:500545 |
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss |
|
Incoordination, Ataxia, Dysmetria, Gait ataxia, Dysphagia, Hemiparesis, Bradykinesia, Truncal ata... |
OMIM:601338 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Ataxia, Confusion, Poor appetite, Reye syndrome-like episodes, Diarrhea, Feeding difficulties, Vo... |
ORPHA:927 |
Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Tremor, Bradykinesia, Ataxia, Rigidity |
OMIM:617836 |
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Elevated circulating aspartate aminotransferase concentration, Hypothermia, Elevated circulating ... |
OMIM:245400 |
Intellectual Developmental Disorder, X-Linked 110 |
|
Bradykinesia |
OMIM:301095 |
X-Linked Parkinsonism-Spasticity Syndrome |
|
Resting tremor, Babinski sign, Scissor gait, Cogwheel rigidity, Bradykinesia, Ankle clonus, Spast... |
ORPHA:363654 |
Intellectual Developmental Disorder With Autism And Speech Delay |
|
Inability to walk, Pachygyria, Abnormal repetitive mannerisms |
OMIM:606053 |
Atrial Fibrillation, Familial, 11 |
|
Reduced left ventricular ejection fraction, Prolonged P wave, Atrial fibrillation, Prolonged QRS ... |
OMIM:614049 |
Foxg1 Syndrome |
|
Inability to walk, Bruxism, Feeding difficulties, Choreoathetosis, Constipation, Gastroesophageal... |
ORPHA:561854 |
Hemiparkinsonism-Hemiatrophy Syndrome |
|
Tremor, Hemiparesis, Parkinsonism, Bradykinesia |
ORPHA:306669 |
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency |
|
Cerebral palsy, Small for gestational age, Tremor, Rigidity, Bradykinesia, Limb hypertonia |
ORPHA:70594 |
Spontaneous Periodic Hypothermia |
|
Ataxia, Hypothermia, Gait disturbance |
ORPHA:29822 |
Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Abnormal fear-induced behavior, Pseudobulbar paralysis, Delirium, Aggressive behavior |
ORPHA:208441 |
Genetic Transient Congenital Hypothyroidism |
|
Abnormal radioactive iodine uptake test result, Thyroid defect in oxidation and organification of... |
ORPHA:226316 |
Parkinson Disease 7, Autosomal Recessive Early-Onset |
|
Resting tremor, Postural tremor, Rigidity, Blepharospasm, Bradykinesia, Parkinsonism with favorab... |
OMIM:606324 |
Visceral Myopathy 2 |
|
Intestinal obstruction, Necrotizing enterocolitis, Gastroparesis, Intestinal pseudo-obstruction, ... |
OMIM:619350 |
X-Linked Dystonia-Parkinsonism |
|
Resting tremor, Progressive extrapyramidal muscular rigidity, Chorea, Hand tremor, Blepharospasm,... |
ORPHA:53351 |
Childhood-Onset Nemaline Myopathy |
|
Fatigable weakness of bulbar muscles, Neuromuscular dysphagia, Clumsiness, Bradykinesia, Poor fin... |
ORPHA:171439 |
Developmental And Epileptic Encephalopathy 78 |
|
Inability to walk, Hypothermia |
OMIM:618557 |
Atypical Progressive Supranuclear Palsy Syndrome |
|
Speech apraxia, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidity, Abnormal pyrami... |
ORPHA:99750 |
Renal Glucosuria |
|
Polydipsia, Polyphagia |
OMIM:233100 |
Childhood Disintegrative Disorder |
|
Bowel incontinence, Social and occupational deterioration, Dementia, Abnormal emotion, Progressiv... |
ORPHA:168782 |
Brugada Syndrome |
|
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... |
ORPHA:130 |
Mitochondrial Membrane Protein-Associated Neurodegeneration |
|
Parkinsonism, Rigidity, Babinski sign, Hand tremor, Dysphagia, Bradykinesia, Spastic paraparesis,... |
ORPHA:289560 |
Machado-Joseph Disease |
|
Ataxia, Parkinsonism, Facial-lingual fasciculations, Rigidity, Babinski sign, Dysphagia, Limb ata... |
OMIM:109150 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Myocardial infarction, Progressive neurologic deterioration, Cerebral hemorrhage, Congestive hear... |
ORPHA:90065 |
Generalized Epilepsy With Febrile Seizures-Plus |
|
Incoordination, Ataxia, Tremor, Bradykinesia, Poor fine motor coordination, Obsessive-compulsive ... |
ORPHA:36387 |
Autosomal Recessive Progressive External Ophthalmoplegia |
|
Ataxia, Cogwheel rigidity, Bradykinesia, Dysphagia, Parkinsonism with favorable response to dopam... |
ORPHA:254886 |
Dravet Syndrome |
|
Incoordination, Parkinsonism, Impulsivity, Rigidity, Cogwheel rigidity, Bradykinesia, Poor fine m... |
ORPHA:33069 |
Perry Syndrome |
|
Parkinsonism, Tremor, Rigidity, Weight loss, Bradykinesia, Inappropriate behavior, Disinhibition |
OMIM:168605 |
Pheochromocytoma/Paraganglioma Syndrome 3 |
|
Extraadrenal pheochromocytoma, Chemodectoma, Adrenal pheochromocytoma, Glomus jugular tumor, Para... |
OMIM:605373 |
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 |
Multiple System Atrophy, Cerebellar Type |
|
Resting tremor, Postural tremor, Parkinsonism, Rigidity, Neuromuscular dysphagia, Abnormal pyrami... |
ORPHA:227510 |
Timothy Syndrome |
|
Prolonged QT interval, Patent ductus arteriosus, Ventricular tachycardia, Atrioventricular block,... |
OMIM:601005 |
Spinocerebellar Ataxia Type 1 |
|
Postural tremor, Chorea, Slurred speech, Dysmetria, Bradykinesia, Progressive cerebellar ataxia, ... |
ORPHA:98755 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Hypothermia, Goiter, Elevated circulating thyroid-stimulating hormone concentration, Increased ra... |
ORPHA:90673 |
Manganese Poisoning |
|
Postural tremor, Aggressive behavior, Hypersexuality, Cogwheel rigidity, Bradykinesia, Hypertonia... |
ORPHA:306682 |
Intellectual Developmental Disorder, Autosomal Dominant 56 |
|
Lower limb spasticity, Ataxia, Impulsivity, Paraparesis, Oromotor apraxia, Clumsiness, Bradykines... |
OMIM:617854 |
Short Qt Syndrome 3 |
|
Shortened QT interval, Tachycardia, Palpitations |
OMIM:609622 |
Thyroid Hormone Resistance, Selective Pituitary |
|
Hyperthyroidism, Impaired sensitivity to thyroid hormone, Elevated circulating thyroid-stimulatin... |
OMIM:145650 |
Brugada Syndrome 4 |
|
Shortened QT interval, Syncope, Atrial fibrillation |
OMIM:611876 |
3-Methylglutaconic Aciduria, Type V |
|
Prolonged QT interval, Noncompaction cardiomyopathy, Sudden cardiac death, Congestive heart failu... |
OMIM:610198 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4 |
|
Cerebellar atrophy, Gastroparesis, Constipation, Gastroesophageal reflux, Failure to thrive |
OMIM:610131 |
Chromosome 3Q29 Deletion Syndrome |
|
Hyperactivity, Small for gestational age, Prominent nasal bridge, Aggressive behavior, Gait ataxi... |
OMIM:609425 |
Rett Syndrome |
|
Limb apraxia, Bradykinesia, Agitation, Increased serum leptin, Failure to thrive, Abnormal repeti... |
ORPHA:778 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Hypothermia, Elevated circulating thyroid-stimulating hormone concentration, Congenital hypothyro... |
ORPHA:226313 |
Primary Erythromelalgia |
|
Hypothermia |
ORPHA:90026 |
Andersen-Tawil Syndrome |
|
Prolonged QT interval, Bidirectional ventricular ectopy, Polymorphic ventricular tachycardia, Dil... |
ORPHA:37553 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
|
Bradykinesia, Babinski sign |
OMIM:619063 |
Myofibrillar Myopathy 10 |
|
Prolonged QTc interval, Increased QRS voltage |
OMIM:619040 |
Inherited Creutzfeldt-Jakob Disease |
|
Spastic hemiparesis, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Slurred speech, Gait... |
ORPHA:282166 |
Adult-Onset Nemaline Myopathy |
|
Bradykinesia, Poor fine motor coordination, Neuromuscular dysphagia |
ORPHA:171442 |
Wolff-Parkinson-White Syndrome |
|
Wolff-Parkinson-White syndrome, Atrial flutter, Paroxysmal atrial fibrillation, Prolonged QRS com... |
OMIM:194200 |
Baker-Gordon Syndrome |
|
Ataxia, Inability to walk, Feeding difficulties, Choreoathetosis, Self-injurious behavior, Gastro... |
OMIM:618218 |
Pheochromocytoma/Paraganglioma Syndrome 1 |
|
Vagal paraganglioma, Extraadrenal pheochromocytoma, Paraganglioma of head and neck, Glomus tympan... |
OMIM:168000 |
Marchiafava-Bignami Disease |
|
Ataxia, Confusion, Aggressive behavior, Gait ataxia, Depression, Dementia, Addictive alcohol use,... |
ORPHA:221074 |
Progressive Supranuclear Palsy |
|
Impulsivity, Tremor, Rigidity, Abnormal synaptic transmission, Blepharospasm, Bradykinesia, Dysph... |
ORPHA:683 |
Proximal Spinal Muscular Atrophy |
|
Gastroparesis, Inability to walk, Constipation, Gastroesophageal reflux, Difficulty walking, Dysp... |
ORPHA:70 |
Idiopathic Neonatal Atrial Flutter |
|
Abnormal EKG, Abnormal atrioventricular conduction, Abnormal left ventricular function, Reduced l... |
ORPHA:45452 |
Classic Progressive Supranuclear Palsy Syndrome |
|
Parkinsonism, Impulsivity, Tremor, Neuromuscular dysphagia, Abnormal pyramidal sign, Blepharospas... |
ORPHA:240071 |
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures |
|
Ataxia, Aggressive behavior, Chorea, Falls, Inappropriate laughter, Bruxism, Abnormal repetitive ... |
OMIM:619150 |
Neurodegeneration With Brain Iron Accumulation 5 |
|
Parkinsonism, Aggressive behavior, Tremor, Rigidity, Bradykinesia, Spastic paraparesis |
OMIM:300894 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2 |
|
Small for gestational age, Anteverted nares, Gastroparesis, Ataxia, Wide nasal bridge, Failure to... |
OMIM:614052 |
Hirschsprung Disease-Ganglioneuroblastoma Syndrome |
|
Prolonged QT interval, Arrhythmia |
ORPHA:2151 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Restlessness, Aggressive behavior, Frontotemporal dementia, Inappropriate behavior, Gait disturba... |
OMIM:600795 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type |
|
Pain insensitivity, Ataxia, Anteverted nares, Depressed nasal bridge, Prominent nasal bridge, Ina... |
OMIM:300260 |
Multiple System Atrophy |
|
Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign, Gait ataxia, Br... |
ORPHA:102 |
Coenzyme Q10 Deficiency, Primary, 5 |
|
Intrauterine growth retardation, Hypothermia |
OMIM:614654 |
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant |
|
Cerebellar atrophy, Ataxia, Narcolepsy, Depression, Dementia, Type II diabetes mellitus, Memory i... |
OMIM:604121 |
Christianson Syndrome |
|
Cerebellar atrophy, Cachexia, Abnormality of the nose, Feeding difficulties in infancy, Dysphagia... |
ORPHA:85278 |
Body Mass Index Quantitative Trait Locus 19 |
|
Anosmia, Hyperinsulinemia, Obesity, Increased serum leptin, Hyposmia, Polyphagia |
OMIM:617885 |
Autosomal Dominant Dopa-Responsive Dystonia |
|
Torticollis, Ataxia, Parkinsonism, Postural tremor, Rigidity, Babinski sign, Gait ataxia, Bradyki... |
ORPHA:98808 |
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders |
|
Overweight, Periventricular nodular heterotopia, Abnormal repetitive mannerisms, Attention defici... |
OMIM:620065 |
Developmental And Epileptic Encephalopathy 58 |
|
Inability to walk, Abnormal repetitive mannerisms, Feeding difficulties |
OMIM:617830 |
Atypical Juvenile Parkinsonism |
|
Resting tremor, Involuntary movements, Rigidity, Abnormal pyramidal sign, Gait ataxia, Bradykines... |
ORPHA:391411 |
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism |
|
Resting tremor, Postural tremor, Parkinsonism, Rigidity, Clumsiness, Bradykinesia |
OMIM:619911 |
Oculogastrointestinal Muscular Dystrophy |
|
Intestinal pseudo-obstruction, Gastroparesis, Abdominal distention, Cachexia |
ORPHA:1876 |
Pontocerebellar Hypoplasia, Type 11 |
|
Broad-based gait, Ataxia, Inability to walk, Bulbous nose, Limb ataxia, Dysphagia, Self-injurious... |
OMIM:617695 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Cerebellar atrophy, Dysphagia, Depression, Cerebral atrophy, Dementia, Progressive language deter... |
ORPHA:79264 |
Pure Autonomic Failure |
|
Abnormality of circulating catecholamine level |
ORPHA:441 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Broad-based gait, Hyperactivity, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, O... |
ORPHA:3077 |
Type 1 Diabetes Mellitus |
|
Polydipsia, Polyphagia |
OMIM:222100 |
Intellectual Developmental Disorder, Autosomal Recessive 58 |
|
Aggressive behavior, Pica, Choreoathetosis, Self-injurious behavior, Abnormal repetitive mannerisms |
OMIM:617270 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... |
OMIM:604400 |
Sporadic Infantile Bilateral Striatal Necrosis |
|
Resting tremor, Parkinsonism, Chorea, Babinski sign, Gait ataxia, Titubation, Bradykinesia, Dysph... |
ORPHA:225147 |
Smith-Magenis syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation |
DECIPHER:8 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Gastroparesis, Intestinal pseudo-obstruction, Impaired pain sensation, Feeding difficulties in in... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Gastroparesis, Intestinal pseudo-obstruction, Impaired pain sensation, Feeding difficulties in in... |
ORPHA:352665 |
Multiple System Atrophy, Parkinsonian Type |
|
Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign, Gait ataxia, Br... |
ORPHA:98933 |
Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity, Abnormal repetitive mannerisms |
OMIM:300271 |
Central Diabetes Insipidus |
|
Lethargy, Polydipsia, Anorexia, Depression |
ORPHA:178029 |
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments |
|
Short attention span, Diffuse cerebral atrophy, Motor neuron atrophy, Frontotemporal dementia, Fr... |
ORPHA:412066 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Neonatal death |
OMIM:273680 |
Autism, Susceptibility To, X-Linked 2 |
|
Inflexible adherence to routines, Restrictive behavior, Abnormal repetitive mannerisms, Increased... |
OMIM:300495 |
Visceral Myopathy, Familial, With External Ophthalmoplegia |
|
Abdominal distention, Malnutrition, Gastroparesis, Abdominal pain |
OMIM:277320 |
Chops Syndrome |
|
Anteverted nares, Gastroparesis, Patent ductus arteriosus, Obesity, Constipation, Gastroesophagea... |
OMIM:616368 |
Cirrhotic Cardiomyopathy |
|
Prolonged QT interval, Elevated jugular venous pressure, Left ventricular diastolic dysfunction, ... |
ORPHA:57777 |
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities |
|
Nausea and vomiting, Short attention span, Hyperactivity, Aggressive behavior, Dysphoria, Depress... |
OMIM:620242 |
Neonatal Lupus Erythematosus |
|
Prolonged QT interval, Heart block, Dilated cardiomyopathy, Atrioventricular block, Abnormal elec... |
ORPHA:398124 |
Mungan Syndrome |
|
Intestinal pseudo-obstruction, Abdominal pain, Gastroparesis, Hypoperistalsis |
OMIM:611376 |
Autoimmune Hypoparathyroidism |
|
Abnormal left ventricular function, Prolonged QT interval, Confusion, Ventricular arrhythmia |
ORPHA:36913 |
Parkinson Disease 18, Autosomal Dominant, Susceptibility To |
|
Rigidity, Resting tremor, Bradykinesia, Parkinsonism |
OMIM:614251 |
Parkinson Disease 21 |
|
Tremor, Rigidity, Parkinsonism, Bradykinesia |
OMIM:616361 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Ventricular tachycardia, T-wave inversio... |
OMIM:611528 |
Primary Progressive Freezing Gait |
|
Restless legs, Postural tremor, Clonus, Rigidity, Babinski sign, Bradykinesia, Dysphagia, Frequen... |
ORPHA:75567 |
Waisman Syndrome |
|
Resting tremor, Parkinsonism, Rigidity, Cogwheel rigidity, Bradykinesia, Parkinsonism with favora... |
OMIM:311510 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Decreased thyroid-stimulating hormone level, Hypothermia, Pituitary hypothyroidism, Growth delay,... |
ORPHA:90674 |
Acquired Central Diabetes Insipidus |
|
Polydipsia |
ORPHA:95626 |
Parkinson Disease 8, Autosomal Dominant |
|
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Parkinsonism with favorable response to dop... |
OMIM:607060 |
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome |
|
Tremor, Rigidity, Neuromuscular dysphagia, Spastic dysarthria, Blepharospasm, Bradykinesia, Oculo... |
ORPHA:240094 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14 |
|
Prolonged QT interval |
OMIM:615351 |
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant |
|
Cerebellar atrophy, Inability to walk, Chorea, Cerebral atrophy, Feeding difficulties, Self-injur... |
OMIM:614254 |
Superficial Siderosis |
|
Cerebellar atrophy, Ataxia, Partial anosmia, Impaired temperature sensation, Impaired pain sensat... |
ORPHA:247245 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hyperactivity, Broad-based gait, Aggressive behavior, Simplified gyral pattern, Abnormal repetiti... |
OMIM:619470 |
Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Hyperactivity, Small for gestational age, Anteverted nares, Depressed nasal bridge, Prominent nos... |
OMIM:617796 |
Hyperprolinemia, Type I |
|
Abnormal repetitive mannerisms, Hyperactivity, Ataxia, Aggressive behavior |
OMIM:239500 |
Al Amyloidosis |
|
Gastrointestinal hemorrhage, Gastroparesis, Abdominal distention, Xerostomia, Weight loss, Dysphagia |
ORPHA:85443 |
Immunodeficiency 77 |
|
Gastroparesis |
OMIM:619223 |
Cardiomyopathy, Familial Hypertrophic, 6 |
|
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... |
OMIM:600858 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Eunuchoid habitus, Hypothalamic gonadotropin-releasing hormone deficiency, Ataxia, Hypogonadotrop... |
OMIM:308700 |
Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Impaired vibratory sensation, Hyposmia, Hypergonadotropic hypogonadism |
OMIM:613724 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
Parkinsonism, Rigidity, Babinski sign, Dysphagia, Gait ataxia, Limb ataxia, Bradykinesia, Truncal... |
OMIM:258450 |
Hypermanganesemia With Dystonia 1 |
|
Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordination, Abnormality of extrap... |
OMIM:613280 |
Parkinsonian-Pyramidal Syndrome |
|
Parkinsonism, Rigidity, Babinski sign, Abnormal pyramidal sign, Bradykinesia, Myoclonus, Dysphagi... |
ORPHA:171695 |
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive |
|
Inability to walk, Self-injurious behavior, Abnormal repetitive mannerisms, Cerebral cortical atr... |
OMIM:617820 |
Developmental And Epileptic Encephalopathy 107 |
|
Feeding difficulties in infancy, Abnormal repetitive mannerisms |
OMIM:620033 |
Spinocerebellar Ataxia Type 8 |
|
Ataxia, Rigidity, Limb ataxia, Gait ataxia, Spastic dysarthria, Bradykinesia, Dysphagia, Spasticity |
ORPHA:98760 |
Postencephalitic Parkinsonism |
|
Resting tremor, Involuntary movements, Rigidity, Babinski sign, Abnormal pyramidal sign, Cogwheel... |
ORPHA:97349 |
Spinocerebellar Ataxia Type 13 |
|
Torticollis, Limb ataxia, Gait ataxia, Clumsiness, Titubation, Bradykinesia, Myoclonus, Dysphagia |
ORPHA:98768 |
Neurodegeneration With Brain Iron Accumulation 2B |
|
Hyperactivity, Impulsivity, Chorea, Babinski sign, Dysmetria, Gait ataxia, Bradykinesia, Dysdiado... |
OMIM:610217 |
Muscular Dystrophy, Becker Type |
|
Abnormal EKG, Arrhythmia, Cardiomyopathy |
OMIM:300376 |
Sudden Infant Death-Dysgenesis Of The Testes Syndrome |
|
Growth delay, Hypothermia |
ORPHA:168593 |
Atrial Standstill |
|
Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa... |
ORPHA:1344 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Hyperactivity, Ataxia, Aggressive behavior, Precocious puberty, Cerebellar vermis atrophy, Obesit... |
ORPHA:163681 |
Nathalie Syndrome |
|
Abnormal EKG |
OMIM:255990 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Prominent nasal bridge, Impulsivity, Aggressive behavior, Stereotypical body rocki... |
OMIM:309548 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri... |
OMIM:610193 |
Intellectual Developmental Disorder, Autosomal Dominant 7 |
|
Hyperactivity, Small for gestational age, Ataxia, Failure to thrive in infancy, Feeding difficult... |
OMIM:614104 |
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly |
|
Pain insensitivity, Anteverted nares, Prominent nasal bridge, Underdeveloped nasal alae, Feeding ... |
OMIM:618825 |
Kallmann Syndrome With Spastic Paraplegia |
|
Eunuchoid habitus, Hypothalamic gonadotropin-releasing hormone deficiency, Ataxia, Hypogonadotrop... |
OMIM:308750 |
Fraxe Intellectual Disability |
|
Hyperactivity, Prominent nasal bridge, Impulsivity, Aggressive behavior, Stereotypical body rocki... |
ORPHA:100973 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Short attention span, Hyperactivity, Hyperthyroidism, Diabetes mellitus, Aggressive behavior, Abn... |
ORPHA:449291 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Ectopic posterior pituitary, Anterior pituitary hypoplasia, Decreased response to growth hormone ... |
ORPHA:226307 |
Hypogonadotropic Hypogonadism 17 With Or Without Anosmia |
|
Hyposmia, Hypogonadotropic hypogonadism |
OMIM:615266 |
Neurodegeneration, Childhood-Onset, With Brain Atrophy |
|
Cerebellar atrophy, Ataxia, Inability to walk, Chorea, Dysphagia, Feeding difficulties, Cerebral ... |
OMIM:617672 |
48,Xxyy Syndrome |
|
Ataxia, Hypergonadotropic hypogonadism, Feeding difficulties in infancy, Obesity, Depression, Con... |
ORPHA:10 |
Brunet-Wagner Neurodevelopmental Syndrome |
|
Cerebellar atrophy, Wide nasal bridge, Cerebral atrophy, Self-injurious behavior, Abnormal repeti... |
OMIM:619690 |
Brugada Syndrome 7 |
|
Atrial flutter, Paroxysmal atrial fibrillation, ST segment elevation, Permanent atrial fibrillati... |
OMIM:613120 |
Hypermanganesemia With Dystonia 2 |
|
Parkinsonism, Tremor, Babinski sign, Scissor gait, Clumsiness, Opisthotonus, Ankle clonus, Bradyk... |
OMIM:617013 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Hyperactivity, Anteverted nares, Small for gestational age, Feeding difficulties in infancy, Repe... |
ORPHA:352490 |
Cortical Dysplasia, Complex, With Other Brain Malformations 2 |
|
Self-injurious behavior, Polymicrogyria, Abnormal repetitive mannerisms |
OMIM:615282 |
Rett Syndrome, Congenital Variant |
|
Depressed nasal bridge, Chorea, Bulbous nose, Tongue thrusting, Simplified gyral pattern, Feeding... |
OMIM:613454 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Cerebellar atrophy, Hyperactivity, Ataxia, Aggressive behavior, Corpus callosum atrophy, Inabilit... |
ORPHA:168491 |
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia |
|
Hyposmia, Delayed puberty |
OMIM:615271 |
Autosomal Recessive Spastic Paraplegia Type 77 |
|
Lower limb spasticity, Weakness due to upper motor neuron dysfunction, Progressive spastic parapl... |
ORPHA:466722 |
Parkinson Disease, Late-Onset |
|
Resting tremor, Parkinsonism, Tremor, Rigidity, Bradykinesia, Dysphagia |
OMIM:168600 |
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Cerebellar atrophy, Inability to walk, Chorea, Cerebral atrophy, Gait ataxia, Self-injurious beha... |
OMIM:618917 |
Meningioma |
|
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Neoplasm of th... |
ORPHA:2495 |
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
Fever, Abnormality of temperature regulation, Short stature, Hypothermia, Inability to walk, Unst... |
OMIM:618493 |
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements |
|
Anteverted nares, Inability to walk, Cerebral atrophy, Feeding difficulties, Choreoathetosis, Gas... |
OMIM:618497 |
Familial Hyperaldosteronism Type Iii |
|
Prolonged QT interval, Hypertension, Epistaxis, Intracranial hemorrhage |
ORPHA:251274 |
Parkinson Disease 14, Autosomal Recessive |
|
Eyelid apraxia, Resting tremor, Parkinsonism, Upper limb postural tremor, Aggressive behavior, Tr... |
OMIM:612953 |
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures |
|
Spastic ataxia, Chronic constipation, Abnormal repetitive mannerisms, Attention deficit hyperacti... |
OMIM:618906 |
Severe Intellectual Disability And Progressive Spastic Paraplegia |
|
Cerebellar atrophy, Waddling gait, Overweight, Bulbous nose, Difficulty walking, Abnormal repetit... |
ORPHA:280763 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Restlessness, Confusion, Abdominal pain, Abdominal distention, Diarrhea, Abnormal fear-induced be... |
ORPHA:100924 |
Acute Transverse Myelitis |
|
Impaired vibratory sensation, Somatic sensory dysfunction, Gastroparesis, Dysesthesia, Dissociate... |
ORPHA:139417 |
Bardet-Biedl Syndrome 19 |
|
Hyposmia, Patent ductus arteriosus, Hypogonadism, Obesity |
OMIM:615996 |
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Short attention span, Hyperactivity, Anteverted nares, Aggressive behavior, Wide nasal bridge, Br... |
OMIM:618342 |
Menkes Disease |
|
Intrauterine growth retardation, Short stature, Hypothermia |
OMIM:309400 |
Visceral Myopathy 1 |
|
Gastroparesis, Intestinal pseudo-obstruction, Abdominal pain, Abdominal distention, Diarrhea, Mal... |
OMIM:155310 |
Idiopathic Intracranial Hypertension |
|
Obesity, Depression, Focal sensory seizure with olfactory features, Vomiting, Abnormal emotion, L... |
ORPHA:238624 |
Cardiomyopathy, Dilated, 1Nn |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D... |
OMIM:615916 |
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome |
|
Cerebellar atrophy, Ataxia, Narcolepsy, Cerebral atrophy, Depression, Atrophy/Degeneration affect... |
ORPHA:314404 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Hypothermia, Thyroid agenesis, Elevated circulating thyroid-stimulating hormone concentration, Co... |
OMIM:218700 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Hypothermia |
OMIM:616501 |
Neuroferritinopathy |
|
Resting tremor, Parkinsonism, Involuntary movements, Chorea, Babinski sign, Blepharospasm, Bradyk... |
ORPHA:157846 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Cerebellar atrophy, Short attention span, Ataxia, Impulsivity, Aggressive behavior, Inability to ... |
OMIM:619580 |
Fragile X-Associated Tremor/Ataxia Syndrome |
|
Ataxia, Parkinsonism, Rigidity, Dysmetria, Gait ataxia, Bradykinesia, Compulsive behaviors, Dysph... |
ORPHA:93256 |
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Short attention span, Diabetes mellitus, Broad nasal tip, Overweight, Repetitive compulsive behav... |
ORPHA:391372 |
Meningococcal Meningitis |
|
Fever, Lethargy, Hypothermia |
ORPHA:33475 |
Systemic Sclerosis |
|
Gastroparesis, Bowel incontinence, Intestinal bleeding, Gastroesophageal reflux, Dysphagia |
ORPHA:90291 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated hepatic transaminase, Lethargy, Hepatic failure, Hypothermia |
ORPHA:159 |
Chromosome 2Q37 Deletion Syndrome |
|
Pain insensitivity, Wide nose, Anteverted nares, Depressed nasal bridge, Hyperactivity, Broad nas... |
OMIM:600430 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Ataxia, Underdeveloped nasal alae, Aggressive behavior, Feeding difficulties, Chronic constipatio... |
OMIM:300986 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Prolonged QT interval, Tachycardia, Dilated cardiomyopathy, Ventricular tachycardia, Atrioventric... |
ORPHA:26793 |
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Abnormality of the sense of smell |
OMIM:146110 |
Multifocal Atrial Tachycardia |
|
Atrial flutter, Tachycardia, Atrial fibrillation, Paroxysmal atrial tachycardia, Effort-induced p... |
ORPHA:3282 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Decreased response to growth hormone stimulation test, Overweight, Depression, Gait disturbance, ... |
ORPHA:457240 |
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Anosmia, Obesity, Absence of pubertal developme... |
OMIM:610628 |
Parkinson Disease 1, Autosomal Dominant |
|
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Myoclonus, Dysphagia |
OMIM:168601 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Prolonged QT interval, Confusion, Dilated cardiomyopathy, Hepatic necrosis, Hypertrophic cardiomy... |
ORPHA:71212 |
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures |
|
Hyperactivity, Aggressive behavior, Bulbous nose, Wide nasal bridge, Feeding difficulties, Gastro... |
OMIM:620292 |
Intellectual Developmental Disorder, Autosomal Dominant 51 |
|
Aggressive behavior, Chronic diarrhea, Wide nasal bridge, Feeding difficulties, Chronic constipat... |
OMIM:617788 |
Cardiomyopathy, Familial Hypertrophic, 8 |
|
Cardiac arrest, Sudden cardiac death, Congestive heart failure, T-wave inversion, Reduced left ve... |
OMIM:608751 |
Shukla-Vernon Syndrome |
|
Cerebellar atrophy, Broad-based gait, Impulsivity, Aggressive behavior, Attention deficit hyperac... |
OMIM:301029 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Hyperactivity, Inability to walk, Self-injurious behavior, Brain atrophy, Bruxism, Abnormal repet... |
OMIM:618718 |
Rett Syndrome |
|
Abnormal T-wave, Motor deterioration, Prolonged QTc interval |
OMIM:312750 |
Bardet-Biedl Syndrome 17 |
|
Anosmia, Obesity, Hypogonadism, Cognitive impairment, Hyposmia, Polydipsia |
OMIM:615994 |
Muscular Dystrophy, Cardiac Type |
|
Abnormal EKG, Cardiomyopathy |
OMIM:309930 |
Leber Congenital Amaurosis 10 |
|
Hyposmia |
OMIM:611755 |
Ethylene Glycol Poisoning |
|
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Confusion, Congestive heart failu... |
ORPHA:31826 |
Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Aplasia/Hypoplasia involving the nose, Hypogonadotropic hypogonadism, Choanal atresia, Abnormalit... |
ORPHA:1135 |
Senior-Loken Syndrome 4 |
|
Polydipsia |
OMIM:606996 |
Smith-Magenis Syndrome |
|
Hyperactivity, Impaired pain sensation, Abnormality of the thyroid gland, Self hugging, Wide nasa... |
OMIM:182290 |
Adult-Onset Dystonia-Parkinsonism |
|
Eyelid apraxia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication... |
ORPHA:199351 |
Polyendocrine-Polyneuropathy Syndrome |
|
Hypogonadotropic hypogonadism, Ataxia, Anterior pituitary hypoplasia, Central hypothyroidism, Abn... |
OMIM:616113 |
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Hypothermia |
OMIM:614498 |
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
|
Anosmia, Decreased circulating luteinizing hormone level, Decreased circulating follicle stimulat... |
OMIM:614897 |
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features |
|
Broad-based gait, Hyperactivity, Ataxia, Depressed nasal bridge, Unsteady gait, Pica, Tongue thru... |
OMIM:617865 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Eyelid apraxia, Hyperactivity, Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Abnormal py... |
OMIM:234200 |
Radio-Tartaglia Syndrome |
|
Ataxia, Anteverted nares, Depressed nasal bridge, Prominent nasal bridge, Precocious puberty, Agg... |
OMIM:619312 |
Parkinson Disease 20, Early-Onset |
|
Eyelid apraxia, Involuntary movements, Parkinsonism, Tremor, Rigidity, Bradykinesia, Dysphagia |
OMIM:615530 |
Gm2 Gangliosidosis, Ab Variant |
|
Abnormal fear-induced behavior, Chorea, Cerebral atrophy, Inappropriate behavior, Neurodegenerati... |
ORPHA:309246 |
Cardiomyopathy, Familial Hypertrophic, 10 |
|
Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asymmetric septal hypert... |
OMIM:608758 |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Decreased circulating dihydrotestosterone concentration, Decreased... |
OMIM:228300 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Elevated hepatic transaminase, Portal hypertension, Hypothermia, Jaundice, Growth delay, Hepatic ... |
OMIM:251880 |
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia |
|
Reduced response to gonadotropin-releasing hormone stimulation test, Anosmia, Decreased circulati... |
OMIM:616030 |
Cocaine Intoxication |
|
Prolonged QT interval, Tachycardia, Prolonged QRS complex, Myocardial infarction, Diffuse alveola... |
ORPHA:90068 |
Galloway-Mowat Syndrome 6 |
|
Cerebellar atrophy, Anteverted nares, Decreased response to growth hormone stimulation test, Abno... |
OMIM:618347 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Prolonged QT interval, Bidirectional ventricular ectopy, Syncope, Palpitations, Prominent U wave,... |
OMIM:170390 |
Developmental And Epileptic Encephalopathy 30 |
|
Abnormal repetitive mannerisms, Feeding difficulties |
OMIM:616341 |
Caribbean Parkinsonism |
|
Weakness due to upper motor neuron dysfunction, Parkinsonism, Rigidity, Bradykinesia, Progressive... |
ORPHA:97355 |
Intellectual Developmental Disorder, X-Linked 98 |
|
Long nose, Self-biting, Gastroesophageal reflux, Abnormal repetitive mannerisms, Hyperactivity, A... |
OMIM:300912 |
Occipital Horn Syndrome |
|
Gastroparesis, Abnormality of the sense of smell, Gastroesophageal reflux, Esophagitis, Dysphagia... |
ORPHA:198 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Cardiac arrest, Sudden cardiac death, Ve... |
OMIM:609040 |
Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Wide nose, Anteverted nares, Narrow nasal ridge, Underdeveloped nasal alae, Patent ductus arterio... |
OMIM:619293 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Anosmia, Decreased circulating gonadotropin concentration, Hypopla... |
OMIM:614841 |
Potocki-Lupski Syndrome |
|
Hyperactivity, Small for gestational age, Oral-pharyngeal dysphagia, Feeding difficulties in infa... |
OMIM:610883 |
Cardiomyopathy, Familial Hypertrophic, 13 |
|
Atrial fibrillation, Angina pectoris, Concentric hypertrophic cardiomyopathy, Right bundle branch... |
OMIM:613243 |
Congenital Enterovirus Infection |
|
Fever, Hepatic failure, Hepatitis, Hypothermia |
ORPHA:292 |
White-Sutton Syndrome |
|
Waddling gait, Hyperactivity, Depressed nasal bridge, Broad nasal tip, Aggressive behavior, Abnor... |
OMIM:616364 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Gastroparesis, Failure to thrive in infancy, Depressed nasal bridge, Feeding difficulties in infa... |
ORPHA:500150 |
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Hyperactivity, Depressed nasal bridge, Ataxia, Aggressive behavior, Bulbous nose, Obesity, Feedin... |
OMIM:618430 |
Indifference To Pain, Congenital, Autosomal Recessive |
|
Pain insensitivity, Impaired temperature sensation, Impaired proprioception, Anosmia, Painless fr... |
OMIM:243000 |
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Hyperactivity, Aggressive behavior, Prominent nose, Irritability, Abnormal repetitive mannerisms |
ORPHA:391307 |
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Lewy bodies, Neurofibrillary tangles, Frontotemporal dementia, Repetitive compulsive behavior, Hy... |
OMIM:607485 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Growth delay, Hypothermia |
OMIM:608800 |
Neurodegeneration With Brain Iron Accumulation 4 |
|
Abnormal lower motor neuron morphology, Cerebellar atrophy, Ataxia, Impulsivity, Loss of ambulati... |
OMIM:614298 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Elevated hepatic transaminase, Elevated gamma-glutamyltransferase level, Hypothermia, Decreased l... |
OMIM:618329 |
Smith-Magenis Syndrome |
|
Failure to thrive in infancy, Anteverted nares, Depressed nasal bridge, Impaired pain sensation, ... |
ORPHA:819 |
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Anosmia, Decreased circulating luteinizing hormone level, Decrease... |
OMIM:614842 |
Progressive Non-Fluent Aphasia |
|
Abnormal lower motor neuron morphology, Restlessness, Neurofibrillary tangles, Frontotemporal dem... |
ORPHA:100070 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Elevated hepatic transaminase, Fever, Ataxia, Hypothermia, Jaundice, Lethargy |
ORPHA:20 |
Hypogonadotropic Hypogonadism 25 With Anosmia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Anosmia, Hypoplasia of the ovary, Decreas... |
OMIM:618841 |
Developmental And Epileptic Encephalopathy 6B |
|
Ataxia, Inability to walk, Chorea, Choreoathetosis, Abnormal repetitive mannerisms, Gastrostomy t... |
OMIM:619317 |
Amoebiasis Due To Free-Living Amoebae |
|
Myocardial necrosis, Restlessness, Ataxia, Confusion, Irritability, Abnormality of the adrenal gl... |
ORPHA:68 |
Septo-Optic Dysplasia Spectrum |
|
Anterior pituitary hypoplasia, Maternal diabetes, Anosmia, Obesity, Constipation, Polydipsia, Abn... |
ORPHA:3157 |
Coffin-Siris Syndrome 6 |
|
Depressed nasal bridge, Broad nasal tip, Constipation, Gastroesophageal reflux, Attention deficit... |
OMIM:617808 |
Niemann-Pick Disease Type C |
|
Progressive neurologic deterioration, Chorea, Progressive gait ataxia, Low frustration tolerance,... |
ORPHA:646 |
Congenital Left Ventricular Aneurysm |
|
Congestive heart failure, Arrhythmia, Abnormal ST segment, Abnormal T-wave |
ORPHA:1055 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Prolonged QT interval, Tachycardia, Atrial fibrillation, Bradycardia |
OMIM:613327 |
Brugada Syndrome 6 |
|
ST segment elevation, Ventricular fibrillation, Cardiac arrest |
OMIM:613119 |
Cerebral Creatine Deficiency Syndrome 1 |
|
Prolonged QT interval, Attention deficit hyperactivity disorder |
OMIM:300352 |
Glycogen Storage Disease Xv |
|
ST segment elevation, Right bundle branch block, Paroxysmal ventricular tachycardia, T-wave inver... |
OMIM:613507 |
Intellectual Developmental Disorder With Autism And Macrocephaly |
|
Wide nose, Overweight, Pica, Wide nasal bridge, Constipation, Recurrent hand flapping |
OMIM:615032 |
Drug-Induced Lupus Erythematosus |
|
Pericarditis, Prolonged QTc interval |
ORPHA:231111 |
Developmental And Epileptic Encephalopathy 64 |
|
Anteverted nares, Depressed nasal bridge, Broad nasal tip, Inability to walk, Chorea, Self-injuri... |
OMIM:618004 |
Distal Xq28 Microduplication Syndrome |
|
Epistaxis, Impulsivity, Broad nasal tip, Aggressive behavior, Patent ductus arteriosus, Recurrent... |
ORPHA:293939 |
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Anosmia, Small pituitary gland, Delayed puberty, Hyposmia |
OMIM:612702 |
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Prolonged QT interval, Abnormal EKG, Arrhythmia |
ORPHA:480864 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Ataxia, Gait ataxia, Impaired tactile sensation, Brain atrophy, Abnormal repetitive mannerisms |
OMIM:619092 |
2Q23.1 Microdeletion Syndrome |
|
Hyperactivity, Ataxia, Polyphagia, Self-injurious behavior, Constipation, Abnormal repetitive man... |
ORPHA:228402 |
Brugada Syndrome 8 |
|
Right bundle branch block, ST segment elevation, Ventricular tachycardia |
OMIM:613123 |
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia |
|
Hyposmia, Anosmia, Hypogonadotropic hypogonadism, Bifid nose |
OMIM:614838 |
Peroxisome Biogenesis Disorder 9B |
|
Anosmia, Ataxia, Total anosmia |
OMIM:614879 |
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Anosmia, Decreased circulating luteinizing hormone level, Decrease... |
OMIM:614839 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Anteverted nares, Prominent nasal bridge, Broad nasal tip, Inability to walk, Bulbous nose, Occip... |
ORPHA:411986 |
Cardiogenic Shock |
|
Abnormal EKG, Increased pulmonary capillary wedge pressure, Confusion, Myocardial infarction, Rig... |
ORPHA:97292 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type |
|
Hyperactivity, Prominent nose, Long nose, Gait ataxia, Low frustration tolerance, Abnormal repeti... |
OMIM:300486 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Hypogonadotropic hypogonadism, Female hypogonadism, Delayed menarche, Gonadotropin deficiency, An... |
ORPHA:52901 |
Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior, Prominent nose |
OMIM:615541 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Cardiac arrest, Ventricular tachycardia, Torsade de pointes, Hypertrophic cardiomyopathy, Prolong... |
OMIM:616878 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Decreased response to growth hormone stimulation test, Gastrointestinal dysmotility, Gonadotropin... |
ORPHA:293987 |
Chondrodysplasia Punctata 1, X-Linked Recessive |
|
Depressed nasal bridge, Anosmia, Hypogonadism, Short nose, Short nasal septum |
OMIM:302950 |
Amyotrophic Lateral Sclerosis |
|
Nausea and vomiting, Amyotrophic lateral sclerosis, Motor neuron atrophy, Xerostomia, Depression,... |
ORPHA:803 |
X-Linked Intellectual Disability, Cantagrel Type |
|
Abnormal repetitive mannerisms, Short nose, Gastroesophageal reflux, Cerebral cortical atrophy |
ORPHA:85277 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Pain insensitivity, Depressed nasal bridge, Aggressive behavior, Bulbous nose, Patent ductus arte... |
OMIM:617061 |
Pseudohypoparathyroidism Type 2 |
|
Prolonged QT interval |
ORPHA:94090 |
Nephronophthisis-Like Nephropathy 2 |
|
Polydipsia |
OMIM:619468 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Feeding difficulties in infancy, Diarrhea, Tongue thrusting, Choreoathetosis, Athetosis, Irritabi... |
OMIM:608643 |
Cri-Du-Chat Syndrome |
|
Short attention span, Hyperactivity, Small for gestational age, Aggressive behavior, Feeding diff... |
OMIM:123450 |
Gorlin Syndrome |
|
Hypogonadotropic hypogonadism, Wide nasal bridge, Abnormality of the sense of smell |
ORPHA:377 |
Cardiospondylocarpofacial Syndrome |
|
Anteverted nares, Gastroparesis, Bulbous nose, Wide nasal bridge, Feeding difficulties, Hypoplast... |
OMIM:157800 |
Brugada Syndrome 5 |
|
ST segment elevation, Bundle branch block, Ventricular fibrillation |
OMIM:612838 |
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures |
|
Prolonged QT interval, Pulmonary arterial hypertension, Attention deficit hyperactivity disorder |
OMIM:620029 |
Dentici-Novelli Neurodevelopmental Syndrome |
|
Prominent nasal bridge, Precocious puberty, Inability to walk, Simplified gyral pattern, Abnormal... |
OMIM:619877 |
Autism, Susceptibility To, 3 |
|
Inflexible adherence to routines, Restrictive behavior, Abnormal repetitive mannerisms, Increased... |
OMIM:608049 |
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Depressed nasal bridge, Anteverted nares, Inability to walk, Feeding difficulties, Short nose, Ab... |
OMIM:613443 |
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes |
|
Abnormal EKG, Cognitive impairment, Cardiomyopathy |
ORPHA:1177 |
Atypical Rett Syndrome |
|
Restrictive behavior, Impaired pain sensation, Inability to walk, Tongue thrusting, Functional ab... |
ORPHA:3095 |
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia |
|
Anosmia, Hypogonadism, Absence of pubertal development |
OMIM:615267 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy |
|
Cerebellar atrophy, Depressed nasal bridge, Inability to walk, Cerebral atrophy, Dysphagia, Short... |
OMIM:617802 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Ataxia, Hypothermia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Gait disturbance, Temperature in... |
ORPHA:99027 |
Thumb Agenesis, Short Stature, And Immunodeficiency |
|
Anosmia, Delayed puberty |
OMIM:274190 |
Dilated Cardiomyopathy With Ataxia |
|
Prolonged QT interval, Dilated cardiomyopathy |
ORPHA:66634 |
Atrial Fibrillation, Familial, 14 |
|
ST segment elevation, Paroxysmal atrial fibrillation, Hypertension, Prolonged PR interval |
OMIM:615378 |
Neuropathy, Hereditary Sensory And Autonomic, Type Viii |
|
Impaired vibratory sensation, Pain insensitivity, Impaired temperature sensation, Hypoesthesia, G... |
OMIM:616488 |
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities |
|
Abnormal EKG, Pulmonic stenosis |
OMIM:178650 |
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy |
|
Anosmia, Steppage gait, Positive Romberg sign, Distal sensory impairment |
OMIM:601152 |
Kallmann Syndrome |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Ataxia, Hypogonadotropic hypogonadism, An... |
ORPHA:478 |
Hijazi-Reis Syndrome |
|
Chronic constipation, Gastroesophageal reflux, Gait disturbance, Abnormal repetitive mannerisms, ... |
OMIM:301094 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Anosmia, Absence of pubertal development, Decreased circulating lu... |
OMIM:614837 |
Oromandibular Dystonia |
|
Abnormality of the nose, Dysphagia, Depression, Weight loss, Bruxism |
ORPHA:93958 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Hypothermia... |
ORPHA:17 |
Coronary Arterial Fistula |
|
Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Tachycardia, Angina pect... |
ORPHA:2041 |
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia |
|
Anosmia, Hypogonadism, Delayed puberty |
OMIM:615270 |
Holoprosencephaly |
|
Aplasia/Hypoplasia involving the nose, Diabetes mellitus, Failure to thrive in infancy, Choanal a... |
ORPHA:2162 |
Choreoacanthocytosis |
|
Chorea, Hypertonia, Compulsive behaviors, Self-mutilation of tongue and lips due to involuntary m... |
ORPHA:2388 |
Cardiomyopathy, Familial Restrictive, 3 |
|
Abnormal ST segment, Reduced left ventricular ejection fraction, Hypotension, Left axis deviation... |
OMIM:612422 |
Exercise-Induced Malignant Hyperthermia |
|
Prolonged QT interval, Sinus tachycardia, Confusion, ST segment depression, Hypotension, Abnormal... |
ORPHA:466650 |
Developmental And Speech Delay Due To Sox5 Deficiency |
|
Aggressive behavior, Feeding difficulties, Self-injurious behavior, Gastroesophageal reflux, Atte... |
ORPHA:313892 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Intrauterine growth retardation, Hypothermia |
OMIM:618775 |
Brain-Lung-Thyroid Syndrome |
|
Short attention span, Hyperactivity, Ataxia, Abnormal eating behavior, Elevated circulating thyro... |
ORPHA:209905 |
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Choanal atresia, Anosmia, Delayed puberty, Hyposmia |
OMIM:147950 |
Teratoma, Pineal |
|
Polydipsia |
OMIM:273120 |
Combined Oxidative Phosphorylation Deficiency 12 |
|
Bradykinesia, Babinski sign, Failure to thrive, Spastic tetraparesis |
OMIM:614924 |
Kufor-Rakeb Syndrome |
|
Eyelid apraxia, Parkinsonism, Rigidity, Babinski sign, Abnormal pyramidal sign, Blepharospasm, Br... |
ORPHA:306674 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Short attention span, Broad-based gait, Hyperactivity, Ataxia, Abnormal eating behavior, Tongue t... |
ORPHA:98794 |
Thyrotoxic Periodic Paralysis |
|
Prolonged QT interval, Shortened PR interval, Impaired myocardial contractility, Second degree at... |
ORPHA:79102 |
Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Hyperactivity, Aggressive behavior, Unsteady gait, Diminished ability to concentrate, Recurrent h... |
OMIM:615516 |
Coffin-Siris Syndrome 7 |
|
Wide nose, Hyperactivity, Anteverted nares, Depressed nasal bridge, Severe temper tantrums, Feedi... |
OMIM:618027 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Hyperactivity, Slender build, Chorea, Attention deficit hyperactivity disorder, Recurrent hand fl... |
OMIM:617600 |
Alexander Disease |
|
Diabetes mellitus, Ataxia, Hypothermia, Precocious puberty, Gait disturbance, Hypothyroidism |
ORPHA:58 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Ataxia, Aggressive behavior, Unsteady gait, Chronic diarrhea, Low frustration tolerance, Abnormal... |
ORPHA:457279 |
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Diabetes mellitus, Anteverted nares, Prominent nasal bridge, Feeding difficulties in infancy, Pat... |
ORPHA:500159 |
African Trypanosomiasis |
|
Somatic sensory dysfunction, Akinesia, Aggressive behavior, Abnormality of the endocrine system, ... |
ORPHA:3385 |
Attrv122I Amyloidosis |
|
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Congestive heart failure, Hy... |
ORPHA:85451 |
Multiple System Atrophy 1, Susceptibility To |
|
Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia |
OMIM:146500 |
Johnson Neuroectodermal Syndrome |
|
Choanal atresia, Bulbous nose, Anosmia, Hypogonadism, Failure to thrive |
ORPHA:2316 |
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia |
|
Hyposmia, Anosmia, Hypogonadotropic hypogonadism |
OMIM:244200 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Fever, Ataxia, Hypothermia, Abnormality of Krebs cycle metabolism, Gait ataxia, Hepatic failure |
ORPHA:255210 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Hyperactivity, Broad nasal tip, Precocious puberty, Aggressive behavior, Self-biting, Feeding dif... |
ORPHA:3306 |
Primary Dystonia, Dyt13 Type |
|
Abnormal repetitive mannerisms |
ORPHA:98807 |
Obesity, Hyperphagia, And Developmental Delay |
|
Abnormal repetitive mannerisms, Polyphagia, Obesity |
OMIM:613886 |
5Q14.3 Microdeletion Syndrome |
|
Anteverted nares, Feeding difficulties, Frontal cortical atrophy, Abnormal repetitive mannerisms,... |
ORPHA:228384 |
Tbck-Related Intellectual Disability Syndrome |
|
Hyperthyroidism, Decreased response to growth hormone stimulation test, Hypothermia, Inability to... |
ORPHA:488632 |
Gitelman Syndrome |
|
Prolonged QT interval, Ventricular tachycardia, Palpitations, Hypotension |
OMIM:263800 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Ataxia, Hypothermia, Jaundice, Growth delay, Intrauterine growth retardation, Lethargy |
ORPHA:79282 |
Lamb-Shaffer Syndrome |
|
Hyperactivity, Ataxia, Broad nasal tip, Feeding difficulties, Abnormal temper tantrums, Abnormal ... |
ORPHA:530983 |
Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Patent ductus arteriosus, Self-injurious behavior, Compulsive behaviors, Attention deficit hypera... |
OMIM:617044 |
Refsum Disease, Classic |
|
Somatic sensory dysfunction, Ataxia, Anosmia |
OMIM:266500 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Freque... |
OMIM:620141 |
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia |
|
Anosmia, Hypogonadotropic hypogonadism |
OMIM:612370 |
Cystinosis |
|
Nephrogenic diabetes insipidus, Abnormal repetitive mannerisms, Vomiting, Gait disturbance, Delay... |
ORPHA:213 |
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities |
|
Aggressive behavior, Perisylvian polymicrogyria, Scissor gait, Dysmetria, Attention deficit hyper... |
OMIM:619121 |
Gitelman Syndrome |
|
Prolonged QT interval, Raynaud phenomenon, Low-to-normal blood pressure, Syncope, ST segment depr... |
ORPHA:358 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Aggressive behavior, Feeding difficulties in infancy, Abnormal repetitive mannerisms, Gait ataxia... |
ORPHA:476126 |
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia |
|
Anosmia, Hypogonadotropic hypogonadism |
OMIM:614858 |
Snijders Blok-Campeau Syndrome |
|
Broad-based gait, Prominent nose, Unsteady gait, Wide nasal bridge, Feeding difficulties, Attenti... |
OMIM:618205 |
Polyendocrine-Polyneuropathy Syndrome |
|
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Ataxia, Postnatal growth retardatio... |
ORPHA:453533 |
Intellectual Developmental Disorder, Autosomal Recessive 41 |
|
Self-injurious behavior, Abnormal repetitive mannerisms, Broad nasal tip |
OMIM:615637 |
Dopamine Beta-Hydroxylase Deficiency |
|
Hyperinsulinemia, Hypothermia |
ORPHA:230 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Ataxia, Aggressive behavior, Diarrhea, Chorea, Cerebral atrophy, Gait ataxia, Irritability, Vomit... |
OMIM:618321 |
Microphthalmia-Brain Atrophy Syndrome |
|
Diffuse cerebral atrophy, Corpus callosum atrophy, Tongue thrusting, Vomiting, Atrophy/Degenerati... |
ORPHA:77299 |
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy |
|
Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Cognitive impairment, D... |
ORPHA:98784 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Hyperactivity, Anteverted nares, Prominent nasal bridge, Feeding difficulties in infancy, Patent ... |
OMIM:617751 |
Wiedemann-Steiner Syndrome |
|
Psychomotor deterioration, Short attention span, Hyperactivity, Decreased response to growth horm... |
ORPHA:319182 |
Den Hoed-De Boer-Voisin Syndrome |
|
Short attention span, Ataxia, Overweight, Inability to walk, Obesity, Dysphagia, Stereotypical ha... |
OMIM:619229 |
East Syndrome |
|
Salt craving, Ataxia, Inability to walk, Hyperaldosteronism, Difficulty walking, Polydipsia |
ORPHA:199343 |
Neuroleptic Malignant Syndrome |
|
Elevated hepatic transaminase, Fever, Hypothermia, Elevated circulating alkaline phosphatase conc... |
ORPHA:94093 |
Ulnar Agenesis And Endocardial Fibroelastosis |
|
Neonatal death |
OMIM:276822 |
Bilateral Generalized Polymicrogyria |
|
Oral-pharyngeal dysphagia, Feeding difficulties, Self-injurious behavior, Gastroesophageal reflux... |
ORPHA:208447 |
Angelman Syndrome |
|
Gastroesophageal reflux, Vomiting, Hyperactivity, Ataxia, Tongue thrusting, Obesity, Constipation... |
ORPHA:72 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Spastic ataxia, Short attention span, Feeding difficulties in infancy, Inability to walk, Simplif... |
ORPHA:300570 |
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features |
|
Impaired pain sensation, Feeding difficulties, Gait ataxia, Gastroesophageal reflux, Brain atroph... |
OMIM:616579 |
Optic Atrophy 11 |
|
Hyperactivity, Ataxia, Gait apraxia, Dysmetria, Athetosis, Stereotypical body rocking, Constipati... |
OMIM:617302 |
Familial Cold Urticaria |
|
Polydipsia |
ORPHA:47045 |
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
|
Hyperactivity, Depressed nasal bridge, Hair-pulling, Wide nasal bridge, Irritability, Gastroesoph... |
ORPHA:447997 |
Bainbridge-Ropers Syndrome |
|
Anteverted nares, Prominent nasal bridge, Depressed nasal bridge, Underdeveloped nasal alae, Prec... |
OMIM:615485 |
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Chronic constipation, Abnormal repetitive mannerisms, Ataxia, Cerebral cortical atrophy |
OMIM:619428 |
Supranuclear Palsy, Progressive, 2 |
|
Eyelid apraxia, Postural tremor, Parkinsonism, Rigidity, Bradykinesia, Retrocollis, Dysphagia |
OMIM:609454 |
Secondary Non-Traumatic Avascular Necrosis |
|
Addictive alcohol use |
ORPHA:399180 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Vomiting, Tics, Compulsive behaviors, Abnormal repetitive mannerisms, Restrictive behavior, Hyper... |
OMIM:619475 |
Angelman Syndrome Due To A Point Mutation |
|
Broad-based gait, Ataxia, Abnormal eating behavior, Tongue thrusting, Obesity, Feeding difficulti... |
ORPHA:411511 |
Chromosome 15Q11.2 Deletion Syndrome |
|
Ataxia, Bulbous nose, Feeding difficulties, Diminished ability to concentrate, Attention deficit ... |
OMIM:615656 |
Late-Onset Familial Hypoaldosteronism |
|
Fever, Postnatal growth retardation, Abnormal circulating corticosterone level, Elevated serum 11... |
ORPHA:556037 |
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter |
|
Broad-based gait, Feeding difficulties, Gait ataxia, Difficulty walking, Abnormal repetitive mann... |
OMIM:617807 |
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia |
|
Anosmia, Small pituitary gland |
OMIM:614880 |
Pitt-Hopkins-Like Syndrome 1 |
|
Hyperactivity, Ataxia, Aggressive behavior, Progressive language deterioration, Attention deficit... |
OMIM:610042 |
Ritscher-Schinzel Syndrome 4 |
|
Ataxia, Impulsivity, Aggressive behavior, Chorea, Wide nasal bridge, Athetosis, Dysphagia, Abnorm... |
OMIM:619435 |
Methanol Poisoning |
|
Hyperlipidemia, Addictive alcohol use, Confusion |
ORPHA:31825 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Rigidity, Truncal ataxia, Bradykinesia, Poor fine motor coordination, Dysdiadochokinesis, Hyperto... |
ORPHA:309854 |
Pseudohypoparathyroidism Type 1C |
|
Prolonged QT interval, Confusion |
ORPHA:79444 |
Hyperostosis Cranialis Interna |
|
Hyposmia, Anosmia |
OMIM:144755 |
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Depressed nasal bridge, Underdeveloped nasal alae, Long nose, Inability to walk, Self-injurious b... |
ORPHA:457351 |
Phelan-Mcdermid Syndrome |
|
Broad-based gait, Impaired pain sensation, Aggressive behavior, Abnormal repetitive mannerisms, B... |
OMIM:606232 |
Bardet-Biedl Syndrome 9 |
|
Polydipsia, Polyphagia |
OMIM:615986 |
Brachytelephalangy-Dysmorphism-Kallmann Syndrome |
|
Abnormal nostril morphology, Anosmia, Hypogonadotropic hypogonadism, Short nose |
ORPHA:1295 |
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome |
|
Abnormality of the sense of smell |
ORPHA:3201 |
Aural Atresia, Congenital |
|
Hyposmia |
OMIM:607842 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Cerebellar atrophy, Depressed nasal bridge, Focal polymicrogyria, Bulbous nose, Head-banging, Att... |
OMIM:619103 |
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
Narrow nasal bridge, Depressed nasal bridge, Precocious puberty, Wide nasal bridge, Feeding diffi... |
OMIM:620073 |
Tropical Endomyocardial Fibrosis |
|
Prolonged QRS complex, Restrictive cardiomyopathy, Atrioventricular block, Left bundle branch blo... |
ORPHA:75565 |
Staphylococcal Necrotizing Pneumonia |
|
Lethargy, Addictive alcohol use, Confusion, Increased circulating procalcitonin concentration |
ORPHA:36238 |
Refsum Disease |
|
Anosmia, Ataxia |
ORPHA:773 |
Peripartum Cardiomyopathy |
|
Tachycardia, Right ventricular failure, Cardiogenic shock, Congestive heart failure, Dilated card... |
ORPHA:563 |
Apnea, Obstructive Sleep |
|
Anosmia |
OMIM:107650 |
Orthostatic Hypotension 1 |
|
Intermittent hypothermia, Reduced circulating prolactin concentration |
OMIM:223360 |
Solitary Median Maxillary Central Incisor |
|
Abnormal nasopharynx morphology, Midnasal stenosis, Choanal atresia, Decreased response to growth... |
OMIM:147250 |
Pseudohypoparathyroidism Type 1A |
|
Prolonged QT interval, Hypertension, Confusion |
ORPHA:79443 |
Developmental And Epileptic Encephalopathy 66 |
|
Broad-based gait, Abnormal repetitive mannerisms, Wide nasal bridge |
OMIM:618067 |
Chromosome 5P13 Duplication Syndrome |
|
Small for gestational age, Bulbous nose, Wide nasal bridge, Self-injurious behavior, Compulsive b... |
OMIM:613174 |
Nmda Receptor Encephalitis |
|
Short attention span, Confusion, Neoplasm of the thymus, Hypersexuality, Diarrhea, Chorea, Depres... |
ORPHA:217253 |
Ochoa Syndrome |
|
Polydipsia |
ORPHA:2704 |
Pseudohypoparathyroidism Type 1B |
|
Prolonged QT interval |
ORPHA:94089 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Obesity, Feeding difficulties, Choreoathetosis, Gastroesophageal reflux, Attention deficit hypera... |
ORPHA:261197 |
Houge-Janssens Syndrome 3 |
|
Broad nasal tip, Feeding difficulties, Self-injurious behavior, Attention deficit hyperactivity d... |
OMIM:618354 |
Supranuclear Palsy, Progressive, 1 |
|
Eyelid apraxia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Retrocollis, Dysphagia |
OMIM:601104 |
Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Cerebellar atrophy, Small for gestational age, Ataxia, Poor appetite, Aggressive behavior, Inabil... |
OMIM:617799 |
17Q24.2 Microdeletion Syndrome |
|
Prolonged QT interval, Patent ductus arteriosus after birth at term, Pulmonic stenosis |
ORPHA:529962 |
Blepharophimosis With Ptosis, Syndactyly, And Short Stature |
|
Anosmia, Wide nasal bridge |
OMIM:210745 |
Musk, Inability To Smell |
|
Anosmia |
OMIM:254150 |
22Q11.2 Duplication Syndrome |
|
Wide nose, Depressed nasal ridge, Compulsive behaviors, Attention deficit hyperactivity disorder,... |
ORPHA:1727 |
3P25.3 Microdeletion Syndrome |
|
Depressed nasal bridge, Anteverted nares, Ataxia, Prominent nose, Patent ductus arteriosus, Atten... |
ORPHA:435638 |
Rauch-Steindl Syndrome |
|
Hyperactivity, Depressed nasal bridge, Aggressive behavior, Wide nasal bridge, Feeding difficulti... |
OMIM:619695 |
Anosmia For Isobutyric Acid |
|
Partial anosmia |
OMIM:207000 |
Prader-Willi Syndrome Due To Translocation |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Prominent n... |
ORPHA:177907 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Anteverted nares, Depressed nasal bridge, Impaired pain sensation, Underdeveloped nasal alae, Chr... |
OMIM:619005 |
Hydrolethalus |
|
Abnormality of the sense of smell |
ORPHA:2189 |
Anosmia For Butyl Mercaptan |
|
Anosmia |
OMIM:270350 |
Anosmia, Isolated Congenital, X-Linked |
|
Anosmia |
OMIM:301700 |
Anosmia, Isolated Congenital |
|
Anosmia |
OMIM:107200 |
Isovaleric Acid, Inability To Smell |
|
Anosmia |
OMIM:243450 |
White-Sutton Syndrome |
|
Cerebellar atrophy, Hyperactivity, Depressed nasal bridge, Broad nasal tip, Feeding difficulties ... |
ORPHA:468678 |
Marcus-Gunn Syndrome |
|
Choanal atresia, Abnormality of the sense of smell |
ORPHA:91412 |
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Broad-based gait, Anteverted nares, Limb ataxia, Self-injurious behavior, Truncal ataxia, Promine... |
OMIM:617101 |
Wilson Disease |
|
Acute hepatic failure, Hypoparathyroidism, Hypoesthesia, Abdominal distention, Dementia, Vomiting... |
OMIM:277900 |
Blepharophimosis-Ptosis-Esotropia-Syndactyly-Short Stature Syndrome |
|
Anosmia |
ORPHA:2057 |
Moebius Syndrome |
|
Feeding difficulties in infancy, Abnormality of the sense of smell, Hypogonadotropic hypogonadism... |
ORPHA:570 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Short attention span, Depressed nasal bridge, Overweight, Head-banging, Feeding difficulties, Hem... |
OMIM:619575 |
Narcolepsy 7 |
|
Narcolepsy, Type II diabetes mellitus, Obesity |
OMIM:614250 |
Atrial Septal Defect, Ostium Primum Type |
|
Atrial flutter, Tricuspid regurgitation, Abnormally loud pulmonic component of the second heart s... |
ORPHA:99106 |
Complete Atrioventricular Septal Defect |
|
Abnormal EKG, Tachycardia, Left-to-right shunt, Right ventricular failure, Third heart sound, Con... |
ORPHA:1329 |
Intellectual Developmental Disorder, Autosomal Dominant 1 |
|
Short attention span, Ataxia, Prominent nose, Aggressive behavior, Bulbous nose, Depressed nasal ... |
OMIM:156200 |
Familial Hyperaldosteronism Type I |
|
Polydipsia |
ORPHA:403 |
Alazami Syndrome |
|
Wide nose, Abnormal eating behavior, Abnormal repetitive mannerisms, Self-mutilation, Stereotypic... |
ORPHA:319671 |
Intellectual Developmental Disorder, Autosomal Dominant 34 |
|
Abnormal repetitive mannerisms, Broad-based gait, Anteverted nares, Bruxism |
OMIM:616351 |
Nephronophthisis 4 |
|
Polydipsia |
OMIM:606966 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Small for gestational age, Prominent nasal bridge, Patent ductus arteriosus, Abnormality of neuro... |
ORPHA:464311 |
Menkes Disease |
|
Intrauterine growth retardation, Hypothermia, Prolonged neonatal jaundice |
ORPHA:565 |
Developmental And Epileptic Encephalopathy 100 |
|
Depressed nasal bridge, Broad nasal tip, Chorea, Cerebral atrophy, Gait ataxia, Choreoathetosis, ... |
OMIM:619777 |
Pediatric-Onset Graves Disease |
|
Hyperactivity, Increased circulating free T3, Emotional lability, Irritability, Increased circula... |
ORPHA:525731 |
Wild Type Attr Amyloidosis |
|
Abnormal EKG, Myocardial infarction, Congestive heart failure, Bradycardia, Arrhythmia, Hypertrop... |
ORPHA:330001 |
8P11.2 Deletion Syndrome |
|
Depressed nasal bridge, Hypogonadotropic hypogonadism, Patent ductus arteriosus, Anosmia, Feeding... |
ORPHA:251066 |
4Q21 Microdeletion Syndrome |
|
Abnormal repetitive mannerisms, Self-injurious behavior, Depressed nasal bridge |
ORPHA:238750 |
Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Depressed nasal bridge, Bulbous nose, Feeding difficulties, Gastroesophageal reflux, Short nose, ... |
ORPHA:261144 |
Helsmoortel-Van Der Aa Syndrome |
|
Decreased response to growth hormone stimulation test, Episodic vomiting, Pineal cyst, Gastroesop... |
OMIM:615873 |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Obesity, Feeding difficulties, Difficulty walking, Hyposmia, Abnormal repetitive mannerisms |
OMIM:618653 |
Hyperaldosteronism, Familial, Type Iii |
|
Polydipsia |
OMIM:613677 |
Optic Atrophy-Intellectual Disability Syndrome |
|
Anteverted nares, Prominent nasal bridge, Repetitive compulsive behavior, Compulsive behaviors, A... |
ORPHA:401777 |
Niemann-Pick Disease, Type C2 |
|
Ataxia, Neurofibrillary tangles, Dementia, Dysphagia, Abnormal repetitive mannerisms |
OMIM:607625 |
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Depressed nasal bridge, Cerebral atrophy, Feeding difficulties, Inappropriate laughter, Failure t... |
OMIM:615802 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Ataxia, Ileus, Anosmia, Cerebral atrophy, Distal sensory impairment |
OMIM:609136 |
2Q37 Microdeletion Syndrome |
|
Depressed nasal bridge, Anteverted nares, Underdeveloped nasal alae, Obesity, Attention deficit h... |
ORPHA:1001 |
Kleefstra Syndrome |
|
Anteverted nares, Bowel incontinence, Aggressive behavior, Self-mutilation, Obesity, Self-injurio... |
ORPHA:261494 |
8Q21.11 Microdeletion Syndrome |
|
Wide nose, Underdeveloped nasal alae, Abnormality of the sense of smell |
ORPHA:284160 |
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Ataxia, Repetitive compulsive behavior, Chorea, Feeding difficulties, Choreoathetosis, Self-bitin... |
ORPHA:522077 |
Simpson-Golabi-Behmel Syndrome |
|
Prolonged QT interval, Bundle branch block, Cardiomyopathy |
ORPHA:373 |
Acro-Renal-Mandibular Syndrome |
|
Abnormality of the sense of smell |
ORPHA:958 |
Congenital Disorder Of Glycosylation, Type Iia |
|
Prominent nasal bridge, Aggressive behavior, Self-mutilation, Unsteady gait, Failure to thrive, A... |
OMIM:212066 |
Marburg Hemorrhagic Fever |
|
Elevated hepatic transaminase, Fever, Hypothermia, Jaundice, Lethargy |
ORPHA:99826 |
Atrial Septal Defect, Ostium Secundum Type |
|
Bundle branch block, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atrial fibrill... |
ORPHA:99103 |
Senior-Loken Syndrome 3 |
|
Polydipsia |
OMIM:606995 |
Transketolase Deficiency |
|
Patent ductus arteriosus, Self-injurious behavior, Compulsive behaviors, Attention deficit hypera... |
ORPHA:488618 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Athetosis, Polydipsia, Hyperaldosteronism, Dexamethasone-suppressible primary hyperaldosteronism |
ORPHA:369929 |
Childhood Absence Epilepsy |
|
Punding, Attention deficit hyperactivity disorder, Depression |
ORPHA:64280 |
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Cerebellar atrophy, Ataxia, Bowel incontinence, Feeding difficulties, Chronic constipation, Dysph... |
ORPHA:496641 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Broad-based gait, Anteverted nares, Depressed nasal bridge, Feeding difficulties in infancy, Repe... |
ORPHA:513456 |
Kleefstra Syndrome 1 |
|
Anteverted nares, Aggressive behavior, Obesity, Gastroesophageal reflux, Compulsive behaviors, Ab... |
OMIM:610253 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:618504 |
Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Polydipsia |
OMIM:125800 |
Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Polydipsia |
OMIM:304800 |
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome |
|
Pachygyria, Abnormal repetitive mannerisms, Dysphagia |
ORPHA:572013 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Prolonged QT interval, Tachycardia |
ORPHA:1772 |
Intellectual Developmental Disorder, Autosomal Dominant 38 |
|
Depressed nasal bridge, Ataxia, Aggressive behavior, Hair-pulling, Cerebral atrophy, Self-injurio... |
OMIM:616393 |
Campomelic Dysplasia |
|
Depressed nasal bridge, Abnormality of the sense of smell |
ORPHA:140 |
Dpagt1-Cdg |
|
Intracranial hemorrhage, Prolonged QT interval |
ORPHA:86309 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Broad-based gait, Short stature, Hypothermia, Abnormality of the endocrine system, Precocious pub... |
ORPHA:438213 |
Okur-Chung Neurodevelopmental Syndrome |
|
Ataxia, Anteverted nares, Pachygyria, Wide nasal bridge, Simplified gyral pattern, Feeding diffic... |
OMIM:617062 |
7Q11.23 Microduplication Syndrome |
|
Collectionism, Hyperactivity, Broad nasal tip, Aggressive behavior, Patent ductus arteriosus, Uns... |
ORPHA:96121 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Prominent nasal tip, Nail-biting, Pain insensitivity, Broad-based gait, Broad nasal tip, Aggressi... |
OMIM:620330 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Hyperactivity, Small for gestational age, Anterior pituitary hypoplasia, Narrow nasal tip, Promin... |
ORPHA:464306 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Patent ductus ar... |
ORPHA:353281 |
Developmental And Epileptic Encephalopathy 2 |
|
Anteverted nares, Inability to walk, Constipation, Gastroesophageal reflux, Abnormal repetitive m... |
OMIM:300672 |
Nephronophthisis 3 |
|
Polydipsia |
OMIM:604387 |
Charge Syndrome |
|
Hypogonadotropic hypogonadism, Choanal atresia, Depressed nasal bridge, Feeding difficulties in i... |
ORPHA:138 |
Pitt-Hopkins Syndrome |
|
Flared nostrils, Wide nasal bridge, Gait ataxia, Self-injurious behavior, Constipation, Gastroeso... |
OMIM:610954 |
Congenital Aortic Valve Stenosis |
|
Angina pectoris, Sudden cardiac death, Increased QRS voltage, Heart murmur, Abnormal left ventric... |
ORPHA:3093 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Prolonged QT interval, Hypertension, Myocardial infarction, Attention deficit hyperactivity disorder |
ORPHA:99413 |
Turner Syndrome |
|
Prolonged QT interval, Hypertension, Myocardial infarction, Attention deficit hyperactivity disorder |
ORPHA:881 |
Mosaic Monosomy X |
|
Prolonged QT interval, Hypertension, Myocardial infarction, Attention deficit hyperactivity disorder |
ORPHA:99228 |
Monosomy X |
|
Prolonged QT interval, Hypertension, Myocardial infarction, Attention deficit hyperactivity disorder |
ORPHA:99226 |
Megalocornea-Intellectual Disability Syndrome |
|
Hypothyroidism, Abnormal repetitive mannerisms, Ataxia, Wide nasal bridge |
ORPHA:2479 |
Macrocephaly-Developmental Delay Syndrome |
|
Self-injurious behavior, Abnormal repetitive mannerisms, Wide nasal bridge |
ORPHA:397612 |
Hypotonia, Ataxia, And Delayed Development Syndrome |
|
Cerebellar atrophy, Pain insensitivity, Broad-based gait, Ataxia, Anteverted nares, Prominent nas... |
OMIM:617330 |
Acute Lung Injury |
|
Addictive alcohol use |
ORPHA:178320 |
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities |
|
Broad-based gait, Hyperactivity, Ataxia, Anteverted nares, Aggressive behavior, Bulbous nose, Uns... |
OMIM:614756 |
Sarcoidosis |
|
Fever, Hyperthyroidism, Diabetes insipidus, Portal hypertension, Hypothermia, Abnormality of the ... |
ORPHA:797 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Total anosmia, Hypogonadotropic hypogonadism, Partial anosmia, Delayed puberty |
ORPHA:2326 |
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Salt craving, Ataxia, Dysdiadochokinesis, Hyperaldosteronism, Polydipsia |
OMIM:612780 |
Ciliary Dyskinesia, Primary, 1 |
|
Nasal polyposis, Anosmia, Chronic rhinitis |
OMIM:244400 |
Nephronophthisis 1 |
|
Polydipsia |
OMIM:256100 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Self-injurious behavior, Abnormal repetitive mannerisms, Impulsivity, Aggressive behavior |
OMIM:618914 |
Isolated Osteopoikilosis |
|
Addictive alcohol use |
ORPHA:166119 |
Whipple Disease |
|
Polydipsia, Ataxia, Anorexia, Depression |
ORPHA:3452 |
Muscular Dystrophy, Duchenne Type |
|
Abnormal EKG, Congestive heart failure, Dilated cardiomyopathy, Cardiomyopathy, Arrhythmia |
OMIM:310200 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Hypothermia, Growth delay, Difficulty walking, Unexplained fevers, Recurrent fever |
ORPHA:642 |
Nephrogenic Diabetes Insipidus |
|
Polydipsia, Anorexia |
ORPHA:223 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Short attention span, Depressed nasal bridge, Aggressive behavior, Precocious puberty, Obesity, C... |
OMIM:301066 |
Parkinsonism-Dystonia 2, Infantile-Onset |
|
Dysdiadochokinesis, Ataxia, Shuffling gait, Temperature instability |
OMIM:618049 |
Corticosterone Methyloxidase Type Ii Deficiency |
|
Increased circulating 18-hydroxycortisone level, Increased circulating corticosterone level |
OMIM:610600 |
Primary Unilateral Adrenal Hyperplasia |
|
Polydipsia |
ORPHA:231580 |
Kinsship Syndrome |
|
Bulbous nose, Chronic constipation, Gastroesophageal reflux, Brain atrophy, Bruxism, Failure to t... |
OMIM:619297 |
Ogden Syndrome |
|
Depressed nasal bridge, Maternal diabetes, Underdeveloped nasal alae, Bifid nasal tip, Diarrhea, ... |
OMIM:300855 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Cerebellar atrophy, Prominent nasal bridge, Periventricular heterotopia, Wide nasal bridge, Cereb... |
ORPHA:468631 |
Herpes Simplex Virus Encephalitis |
|
Addictive alcohol use |
ORPHA:1930 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Anteverted nares, Depressed nasal bridge, Abnormal repetitive mannerisms, Cerebral atrophy, Const... |
OMIM:301040 |
Van Esch-O'Driscoll Syndrome |
|
Cerebellar atrophy, Hypogonadotropic hypogonadism, Depressed nasal bridge, Impulsivity, Cerebral ... |
OMIM:301030 |
Von Hippel-Lindau Disease |
|
Pancreatic islet cell adenoma, Pancreatic endocrine tumor, Adrenal pheochromocytoma, Paragangliom... |
ORPHA:892 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Anosmia, Single naris, Absent nares, Hypogonadism, Hyposmia |
ORPHA:2250 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hyperparathyroidism, Feeding difficulties in infancy, Abnormal repetitive mannerisms, Depression,... |
ORPHA:534 |
Nephronophthisis 11 |
|
Polydipsia |
OMIM:613550 |
Mucopolysaccharidosis Type 2 |
|
Short attention span, Wide nose, Hyperactivity, Progressive neurologic deterioration, Aggressive ... |
ORPHA:580 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Precocious puberty, Encopresis, Unsteady gait, Bulbous nose, Patent ductus arteriosus, Feeding di... |
OMIM:616682 |
Apparent Mineralocorticoid Excess |
|
Polydipsia |
ORPHA:320 |
Senior-Loken Syndrome 1 |
|
Polydipsia |
OMIM:266900 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Hyperactivity, Impulsivity, Aggressive behavior, Feeding difficulties in infancy, Nasogastric tub... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Hyperactivity, Impulsivity, Aggressive behavior, Feeding difficulties in infancy, Nasogastric tub... |
ORPHA:353277 |
Early-Onset Familial Hypoaldosteronism |
|
Elevated serum 11-deoxycortisol, Abnormal circulating corticosterone level |
ORPHA:556030 |
Hydroxykynureninuria |
|
Stomatitis, Abnormal repetitive mannerisms |
ORPHA:79155 |
Acute Promyelocytic Leukemia |
|
Addictive alcohol use, Anorexia |
ORPHA:520 |
Joubert Syndrome 6 |
|
Abnormal repetitive mannerisms, Ataxia |
OMIM:610688 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Hyperactivity, Narrow nasal ridge, Bulbous nose, Feeding difficulties, Self-injurious behavior, C... |
OMIM:619512 |
1P36 Deletion Syndrome |
|
Depressed nasal bridge, Feeding difficulties in infancy, Abnormal repetitive mannerisms, Patent d... |
ORPHA:1606 |
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
|
Anosmia, Hypogonadotropic hypogonadism, Delayed puberty |
OMIM:619718 |
Narcolepsy 3 |
|
Narcolepsy |
OMIM:609039 |
Senior-Boichis Syndrome |
|
Polydipsia, Agitation, Attention deficit hyperactivity disorder, Aggressive behavior |
ORPHA:84081 |
Narcolepsy 1 |
|
Narcolepsy |
OMIM:161400 |
Norrie Disease |
|
Narrow nasal bridge, Diabetes mellitus, Cachexia, Irritability, Self-injurious behavior, Attentio... |
ORPHA:649 |
Leopard Syndrome 1 |
|
Depressed nasal ridge, Hypoplasia of the ovary, Delayed puberty, Hyposmia, Delayed menarche |
OMIM:151100 |
Panhypophysitis |
|
Decreased circulating cortisol level, Polydipsia, Reduced circulating prolactin concentration, De... |
ORPHA:95513 |
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Epistaxis, Intracranial hemorrhage, Hypertension, Palpitations, Abnormal T-wave |
ORPHA:231625 |
Tuberous Sclerosis Complex |
|
Hyperactivity, Impulsivity, Aggressive behavior, Pancreatic endocrine tumor, Pituitary adenoma, R... |
ORPHA:805 |
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome |
|
Abnormal repetitive mannerisms |
ORPHA:529965 |
Multiple Endocrine Neoplasia Type 1 |
|
Short attention span, Confusion, Hematemesis, Shortened QT interval, Melena, Hypertension |
ORPHA:652 |
Renal Hypoplasia |
|
Polydipsia |
ORPHA:93101 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Depressed nasal bridge, Anteverted nares, Long nose, Inability to walk, Bulbous nose, Short nose,... |
ORPHA:508533 |
Helix Syndrome |
|
Polydipsia |
OMIM:617671 |
Pilarowski-Bjornsson Syndrome |
|
Abnormal repetitive mannerisms |
OMIM:617682 |
Waardenburg Syndrome, Type 2E |
|
Anosmia |
OMIM:611584 |
Charge Syndrome |
|
Hypoparathyroidism, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulati... |
OMIM:214800 |
Cardiac Diverticulum |
|
Abnormal EKG, Angina pectoris, Tricuspid stenosis, Congestive heart failure, Patent ductus arteri... |
ORPHA:1686 |
Pituitary Dermoid And Epidermoid Cysts |
|
Polydipsia |
ORPHA:91351 |
Bosma Arhinia Microphthalmia Syndrome |
|
Anosmia, Hypogonadotropic hypogonadism, Aplasia of the nose, Choanal atresia |
OMIM:603457 |
Hyperparathyroidism, Neonatal Severe |
|
Polydipsia |
OMIM:239200 |
Coffin-Siris Syndrome 12 |
|
Anteverted nares, Prominent nasal bridge, Depressed nasal bridge, Underdeveloped nasal alae, Abno... |
OMIM:619325 |
Wolfram Syndrome |
|
Polydipsia, Dementia, Ataxia |
ORPHA:3463 |
Friedreich Ataxia |
|
Abnormal EKG, Hypertrophic cardiomyopathy, Congestive heart failure |
OMIM:229300 |
Lacrimoauriculodentodigital Syndrome |
|
Choanal atresia, Patent ductus arteriosus, Anosmia, Xerostomia, Dysphagia |
ORPHA:2363 |
Primrose Syndrome |
|
Restlessness, Diabetes mellitus, Ataxia, Hypergonadotropic hypogonadism, Anteverted nares, Depres... |
OMIM:259050 |
Infantile Nephropathic Cystinosis |
|
Polydipsia, Cognitive impairment |
ORPHA:411629 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Shortened QT interval |
ORPHA:99880 |
Parathyroid Carcinoma |
|
Shortened QT interval |
ORPHA:143 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Decreased serum testosterone concentration, Decreased circulating cortisol level, Elevated circul... |
ORPHA:90793 |
Arboleda-Tham Syndrome |
|
Prominent nasal bridge, Broad nasal tip, Bifid nasal tip, Patent ductus arteriosus, Feeding diffi... |
OMIM:616268 |
Waardenburg Syndrome, Type 4C |
|
Anosmia, Hypogonadism |
OMIM:613266 |
Absence Of The Pulmonary Artery |
|
Abnormal EKG, Atrial flutter, Tachycardia, Atrial fibrillation, Congestive heart failure, Patent ... |
ORPHA:980 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
|
Hyperactivity, Depressed nasal bridge, Small for gestational age, Broad nasal tip, Bulbous nose, ... |
OMIM:309590 |
Congenital Sialidosis Type 2 |
|
Abnormal EKG, Telangiectasia |
ORPHA:93400 |
Chronic Thromboembolic Pulmonary Hypertension |
|
Cardiac shunt, Right ventricular failure, Pulmonary embolism, Increased pulmonary vascular resist... |
ORPHA:70591 |
Erdheim-Chester Disease |
|
Xanthelasma, Polydipsia, Ataxia |
ORPHA:35687 |
Oligomeganephronia |
|
Polydipsia |
ORPHA:2260 |
Rabson-Mendenhall Syndrome |
|
Increased serum testosterone level, Fasting hyperinsulinemia, Polydipsia, Increased circulating a... |
ORPHA:769 |
Porphyria Cutanea Tarda |
|
Addictive alcohol use |
ORPHA:101330 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Right bundle branch block, Abnormal EKG, Reduced left ventricular ejection fraction |
ORPHA:268 |
Dextrocardia |
|
Abnormal EKG, T-wave inversion |
ORPHA:1666 |
Toxic Epidermal Necrolysis |
|
Polydipsia, Dysphagia |
ORPHA:537 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Feeding difficulties, Abnormal repetitive mannerisms, Wide nasal bridge, Exocrine pancreatic insu... |
ORPHA:508498 |
Hypomagnesemia 3, Renal |
|
Polydipsia |
OMIM:248250 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Prominent nose, Bulbous nose, P... |
OMIM:612474 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Abnormal circulating pregnenolone concentration, Decreased circulating cortisol level, Increased ... |
ORPHA:95699 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Anteverted nares, Choanal atresia, Gastroesophageal reflux, Short nose, Abnormal repetitive manne... |
OMIM:301044 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Anteverted nares, Broad nasal tip, Long nose, Bulbous nose, Patent ductus arteriosus, Wide nasal ... |
OMIM:619522 |
Brain Dopamine-Serotonin Vesicular Transport Disease |
|
Ataxia, Dysdiadochokinesis, Gait disturbance, Shuffling gait, Cognitive impairment |
ORPHA:352649 |
Wolf-Hirschhorn Syndrome |
|
Small for gestational age, Precocious puberty, Wide nasal bridge, Gastroesophageal reflux, Failur... |
OMIM:194190 |
Mowat-Wilson Syndrome |
|
Gastrointestinal dysmotility, Vomiting, Abnormal repetitive mannerisms, Broad columella, Ataxia, ... |
ORPHA:2152 |
Cystinosis, Nephropathic |
|
Polydipsia, Progressive neurologic deterioration, Dysphagia, Oral-pharyngeal dysphagia |
OMIM:219800 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Polydipsia |
ORPHA:93111 |
Arima Syndrome |
|
Polydipsia, Ataxia |
OMIM:243910 |
Distal Renal Tubular Acidosis |
|
Polydipsia |
ORPHA:18 |
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Elevated circulating luteinizing hormone level, Abnormal circulating corticosterone level, Decrea... |
ORPHA:90796 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Broad-based gait, Bowel incontinence, Impaired pain sensation, Periventricular heterotopia, Inabi... |
ORPHA:261537 |
Juvenile Nephropathic Cystinosis |
|
Polydipsia |
ORPHA:411634 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Polydipsia |
OMIM:602522 |
Lowe Oculocerebrorenal Syndrome |
|
Abnormal repetitive mannerisms, Failure to thrive, Constipation, Aggressive behavior |
OMIM:309000 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Broad-based gait, Bowel incontinence, Impaired pain sensation, Periventricular heterotopia, Inabi... |
ORPHA:261552 |
Autosomal Recessive Polycystic Kidney Disease |
|
Polydipsia, Cognitive impairment |
ORPHA:731 |
Proximal Renal Tubular Acidosis |
|
Polydipsia |
ORPHA:47159 |
Bartter Syndrome, Type 2, Antenatal |
|
Polydipsia |
OMIM:241200 |
Friedreich Ataxia 2 |
|
Abnormal EKG, Concentric hypertrophic cardiomyopathy, Congestive heart failure |
OMIM:601992 |