Photoparoxysmal Response 1 |
|
EEG with photoparoxysmal response |
OMIM:132100 |
Electroencephalographic Peculiarity: Fronto-Precentral Beta Wave Groups |
|
EEG abnormality |
OMIM:130300 |
Electroencephalographic Peculiarity: 14 And 6 Per Sec. Positive Spike Phenomenon |
|
EEG abnormality |
OMIM:130200 |
Cardiac Conduction Defect |
|
Syncope, Arrhythmia |
OMIM:115080 |
Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Optic Atrophy 2 |
|
Tremor, Babinski sign, Dysdiadochokinesis |
OMIM:311050 |
Neuropathy, Hereditary Sensory, Atypical |
|
Babinski sign, Ataxia, Sensory ataxia |
OMIM:256860 |
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3 |
|
Tremor, Ataxia, Slurred speech |
OMIM:613227 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 18 |
|
Bradycardia |
OMIM:619521 |
Spastic Paraplegia 34, X-Linked |
|
Babinski sign, Clonus, Paraplegia, Spastic gait, Impaired vibratory sensation, Spastic paraplegia |
OMIM:300750 |
Epilepsy, Juvenile Absence, Susceptibility To, 1 |
|
Generalized myoclonic seizure, EEG with spike-wave complexes (>3.5 Hz), Generalized non-motor (ab... |
OMIM:607631 |
Epilepsy, Idiopathic Generalized |
|
Generalized myoclonic seizure, EEG with spike-wave complexes (>3.5 Hz), Generalized non-motor (ab... |
OMIM:600669 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Hyperactivity |
OMIM:617028 |
Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
Atrial Fibrillation, Familial, 18 |
|
Palpitations, Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Bradycardia |
OMIM:617280 |
Sinoatrial Node Dysfunction And Deafness |
|
Bradycardia |
OMIM:614896 |
Epilepsy, Myoclonic Juvenile |
|
Morning myoclonic jerks, Bilateral tonic-clonic seizure, Status epilepticus, Generalized non-moto... |
OMIM:254770 |
Primary Orthostatic Tremor |
|
Tremor, Abnormality of extrapyramidal motor function |
ORPHA:238606 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 |
|
Ventricular tachycardia, Syncope, Bradycardia |
OMIM:611938 |
Long Qt Syndrome 15 |
|
Prolonged QT interval, Prolonged QTc interval, Bradycardia, Cardiac arrest, Ventricular fibrillation |
OMIM:616249 |
Supravalvular Aortic Stenosis |
|
Supravalvular aortic stenosis, Arrhythmia |
ORPHA:3193 |
Developmental And Epileptic Encephalopathy 94 |
|
Febrile seizure (within the age range of 3 months to 6 years), Tonic seizure, Bilateral tonic-clo... |
OMIM:615369 |
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 4 |
|
Cerebellar atrophy, Inability to walk, Corpus callosum atrophy, Truncal ataxia, Cerebral atrophy |
OMIM:615268 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 9 |
|
EEG with polyspike wave complexes, Generalized non-motor (absence) seizure, Morning myoclonic jer... |
OMIM:607682 |
Progressive Familial Heart Block, Type Ii |
|
Syncope, Sinus bradycardia, Atrioventricular block, Complete heart block with narrow QRS complexe... |
OMIM:140400 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4 |
|
Right ventricular cardiomyopathy, T-wave inversion in the right precordial leads, Ventricular arr... |
OMIM:602087 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 |
|
Right ventricular cardiomyopathy, T-wave inversion in the right precordial leads, Ventricular arr... |
OMIM:602086 |
Spinocerebellar Ataxia 41 |
|
Unsteady gait, Ataxia, Cerebellar atrophy |
OMIM:616410 |
Schizophrenia 19 |
|
Cognitive impairment |
OMIM:617629 |
Monoamine Oxidase A Deficiency |
|
Cognitive impairment |
ORPHA:3057 |
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Arrhythmia, Sick sinus syndrome, Bradycardia |
OMIM:617182 |
Progressive Familial Heart Block, Type Ib |
|
Syncope, Prolonged QT interval, Atrioventricular block, Left anterior fascicular block, Bradycard... |
OMIM:604559 |
Long Qt Syndrome 16 |
|
T-wave alternans, Prolonged QTc interval, Bradycardia, Second degree atrioventricular block |
OMIM:618782 |
Developmental And Epileptic Encephalopathy 19 |
|
Focal hemiclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Myocloni... |
OMIM:615744 |
Cardiomyopathy, Familial Hypertrophic, 11 |
|
Hypertrophic cardiomyopathy, Arrhythmia |
OMIM:612098 |
Tremor, Hereditary Essential, 6 |
|
Postural tremor, Head tremor, Kinetic tremor, Vocal tremor |
OMIM:618866 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 16 |
|
Multifocal epileptiform discharges, Myoclonic seizure, Atypical absence seizure, Myoclonic absenc... |
OMIM:618596 |
Tremor, Hereditary Essential, 5 |
|
Postural tremor, Tongue tremor, Kinetic tremor, Intention tremor |
OMIM:616736 |
Spinocerebellar Ataxia Type 15/16 |
|
Tremor by anatomical site, Ataxia, Action tremor, Head tremor, Upper limb postural tremor, Gait a... |
ORPHA:98769 |
Epilepsy, Childhood Absence, Susceptibility To, 1 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, EE... |
OMIM:600131 |
Febrile Seizures, Familial, 8 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, EE... |
OMIM:607681 |
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy |
|
Sudden cardiac death, Arrhythmia |
OMIM:212500 |
Brugada Syndrome 9 |
|
Palpitations, Presyncope, ST segment elevation |
OMIM:616399 |
Febrile Seizures, Familial, 9 |
|
Febrile seizure (within the age range of 3 months to 6 years), EEG with spike-wave complexes (>3.... |
OMIM:611634 |
Familial Short Qt Syndrome |
|
Syncope, Shortened QT interval, Atrial fibrillation, Ventricular arrhythmia, Palpitations, Atriov... |
ORPHA:51083 |
Cerebral Palsy, Ataxic, Autosomal Recessive |
|
Cerebral palsy, Dysdiadochokinesis, Cerebellar atrophy, Broad-based gait |
OMIM:605388 |
Episodic Ataxia, Type 1 |
|
Babinski sign, Spastic gait, Tremor, Slurred speech, Incoordination, Episodic ataxia |
OMIM:160120 |
Spinocerebellar Ataxia 45 |
|
Ataxia, Limb ataxia, Cerebellar atrophy, Gait ataxia |
OMIM:617769 |
Sick Sinus Syndrome 4 |
|
Syncope, Abnormal QRS complex, Sinus bradycardia, Abnormal PR interval, Atrioventricular block, A... |
OMIM:619464 |
Long Qt Syndrome 11 |
|
Syncope, Prolonged QT interval |
OMIM:611820 |
Spinocerebellar Ataxia Type 30 |
|
Cerebellar vermis atrophy, Limb ataxia, Gait ataxia |
ORPHA:211017 |
Cardiac Arrhythmia, Ankyrin-B-Related |
|
Syncope, Sinus bradycardia, Prolonged QT interval, Atrial fibrillation, Sudden cardiac death |
OMIM:600919 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Syncope, Ventricular arrhythmia, Ventricular tachycardia, Right ventricular cardiomyopathy, Prolo... |
OMIM:611528 |
Intellectual Developmental Disorder, Autosomal Recessive 53 |
|
Ataxia, EEG with focal spikes, Cerebellar hypoplasia, Cerebral atrophy |
OMIM:616917 |
Tremor, Hereditary Essential, 1 |
|
Postural tremor, Hand tremor, Action tremor |
OMIM:190300 |
Jeavons Syndrome |
|
EEG with hyperventilation-induced epileptiform discharges, Febrile seizure (within the age range ... |
ORPHA:139431 |
His Bundle Tachycardia |
|
Cardiomyopathy, Arrhythmia, Junctional ectopic tachycardia |
ORPHA:3283 |
Posterior Column Ataxia |
|
Impaired proprioception, Ataxia, Impaired vibratory sensation |
OMIM:176250 |
Short Qt Syndrome 2 |
|
Syncope, Shortened QT interval, Atrial fibrillation, Bradycardia, Sudden cardiac death, Ventricul... |
OMIM:609621 |
Developmental And Epileptic Encephalopathy 57 |
|
Seizure, Generalized myoclonic seizure, Atypical absence seizure, Hypsarrhythmia |
OMIM:617771 |
Parkinson Disease 24, Autosomal Dominant, Susceptibility To |
|
Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Rigidity |
OMIM:619491 |
Mental Retardation, Autosomal Dominant 45 |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617600 |
Perioral Myoclonia With Absences |
|
Bilateral tonic-clonic seizure, EEG with spike-wave complexes, Chin myoclonus, Focal seizure with... |
ORPHA:139426 |
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy |
|
EEG with spike-wave complexes (>3.5 Hz), Generalized non-motor (absence) seizure, Bilateral tonic... |
OMIM:609446 |
Spinocerebellar Ataxia Type 5 |
|
Slurred speech, Cerebellar atrophy, Incoordination, Gait disturbance |
ORPHA:98766 |
Intellectual Developmental Disorder With Cardiac Arrhythmia |
|
Arrhythmia, Sick sinus syndrome, Bradycardia |
OMIM:617173 |
Sick Sinus Syndrome 1 |
|
Sinus bradycardia, Prolonged QT interval, Ventricular escape rhythm, Atrioventricular block, Abse... |
OMIM:608567 |
Long Qt Syndrome 10 |
|
T-wave alternans, Prolonged QT interval, Atrial fibrillation, Atrioventricular block, Sudden card... |
OMIM:611819 |
Episodic Ataxia With Slurred Speech |
|
Tremor, Slurred speech, Gait ataxia |
ORPHA:401953 |
Ceroid Lipofuscinosis, Neuronal, 8 |
|
Cerebellar atrophy, Increased neuronal autofluorescent lipopigment, Myoclonus, Ataxia, EEG abnorm... |
OMIM:600143 |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
Continuous Spikes And Waves During Sleep |
|
Focal hemiclonic seizure, Typical absence seizure, Bilateral tonic-clonic seizure, Focal clonic s... |
ORPHA:725 |
Mental Retardation, Autosomal Recessive 2 |
|
Attention deficit hyperactivity disorder |
OMIM:607417 |
Long Qt Syndrome 14 |
|
T-wave alternans, Sinus bradycardia, Prolonged QT interval, Atrioventricular block, Prolonged QTc... |
OMIM:616247 |
Autosomal Spastic Paraplegia Type 30 |
|
Babinski sign, Scissor gait, Diffuse cerebellar atrophy, Spastic gait, Lower limb spasticity, Dis... |
ORPHA:101010 |
Long Qt Syndrome 9 |
|
Sinus bradycardia, Prolonged QT interval, Cardiac arrest, Ventricular arrhythmia |
OMIM:611818 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 11 |
|
Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic se... |
OMIM:607628 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
Developmental And Epileptic Encephalopathy 9 |
|
Bilateral tonic-clonic seizure, Status epilepticus, Atonic seizure, Focal-onset seizure, Generali... |
OMIM:300088 |
Benign Familial Infantile Epilepsy |
|
Generalized clonic seizure, Normal interictal EEG, Limb myoclonus, Bilateral tonic-clonic seizure... |
ORPHA:306 |
Developmental And Epileptic Encephalopathy 26 |
|
Infantile spasms, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Hypsarrhythmi... |
OMIM:616056 |
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures |
|
Bilateral tonic-clonic seizure, Myoclonic seizure, Focal impaired awareness seizure, Seizure, EEG... |
OMIM:617831 |
Spinocerebellar Ataxia Type 41 |
|
Cerebellar vermis atrophy, Gait ataxia |
ORPHA:458798 |
Jervell And Lange-Nielsen Syndrome 1 |
|
Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QT interval |
OMIM:220400 |
Generalized Epilepsy With Febrile Seizures Plus, Type 2 |
|
Focal hemiclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilatera... |
OMIM:604403 |
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10 |
|
Seizure, Generalized myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 ye... |
OMIM:617924 |
Myoclonic Epilepsy Of Unverricht And Lundborg |
|
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure, Interictal epileptiform ... |
OMIM:254800 |
Cortical Dysplasia, Complex, With Other Brain Malformations 9 |
|
Spastic tetraplegia, Ataxia, Inability to walk, EEG abnormality, Cerebellar hypoplasia |
OMIM:618174 |
Cerebellar Ataxia And Albinism |
|
Head tremor, Ataxia |
OMIM:258300 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 14 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Se... |
OMIM:616685 |
Atrial Septal Defect 6 |
|
Atrial fibrillation, Bradycardia |
OMIM:613087 |
Juvenile Myoclonic Epilepsy |
|
Febrile seizure (within the age range of 3 months to 6 years), Morning myoclonic jerks, Status ep... |
ORPHA:307 |
Generalized Epilepsy With Febrile Seizures Plus, Type 9 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo... |
OMIM:616172 |
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction |
|
Ataxia, Inability to walk, Cerebellar atrophy |
OMIM:619333 |
Incessant Infant Ventricular Tachycardia |
|
Abnormal P wave, Histiocytoid cardiomyopathy, Ventricular tachycardia, Supraventricular tachycard... |
ORPHA:45453 |
Glutathionuria |
|
Tremor |
OMIM:231950 |
Juvenile Absence Epilepsy |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, My... |
ORPHA:1941 |
Epilepsy, Familial Temporal Lobe, 8 |
|
Focal aware autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal ph... |
OMIM:616461 |
Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Dystonia, Cerebellar atrophy, Neurodegeneration, Tremor, Ataxia, Spasticity, Apraxia |
OMIM:615889 |
Spinocerebellar Ataxia Type 31 |
|
Tremor, Impaired vibratory sensation, Gait ataxia, Spasticity |
ORPHA:217012 |
Nathalie Syndrome |
|
Abnormal EKG |
OMIM:255990 |
Ataxia-Oculomotor Apraxia Type 1 |
|
Gait disturbance, Ataxia |
ORPHA:1168 |
Spinocerebellar Ataxia 20 |
|
Postural tremor, Action tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal myoclonus |
OMIM:608687 |
Tremor Of Intention, Ataxia, And Lipofuscinosis |
|
Ataxia, Intention tremor |
OMIM:190200 |
Dystonia 3, Torsion, X-Linked |
|
Tremor, Chorea, Myoclonus, Parkinsonism with favorable response to dopaminergic medication |
OMIM:314250 |
Epilepsy, Familial Temporal Lobe, 1 |
|
Focal sensory seizure with visual features, Focal sensory seizure with olfactory features, Bilate... |
OMIM:600512 |
Spinocerebellar Ataxia 37 |
|
Cerebellar atrophy, Frequent falls, Tremor, Ataxia, Unsteady gait |
OMIM:615945 |
Long Qt Syndrome 3 |
|
Syncope, Prolonged QT interval, Torsade de pointes, Sudden cardiac death, Ventricular fibrillation |
OMIM:603830 |
Long Qt Syndrome 2 |
|
Syncope, Prolonged QT interval, Torsade de pointes, Sudden cardiac death, Ventricular fibrillation |
OMIM:613688 |
Long Qt Syndrome 6 |
|
Syncope, Prolonged QT interval, Torsade de pointes, Sudden cardiac death, Ventricular fibrillation |
OMIM:613693 |
Long Qt Syndrome 5 |
|
Syncope, Prolonged QT interval, Torsade de pointes, Sudden cardiac death, Ventricular fibrillation |
OMIM:613695 |
Autosomal Recessive Congenital Cerebellar Ataxia Due To Grid2 Deficiency |
|
Cerebellar vermis atrophy, Brain atrophy, Truncal ataxia, Limb ataxia, Difficulty walking |
ORPHA:363432 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1 |
|
Sudden cardiac death, Right ventricular cardiomyopathy, Ventricular arrhythmia |
OMIM:107970 |
Atonic-Astatic Syndrome Of Foerster |
|
Ataxia, Inability to walk, Abasia |
OMIM:209100 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Premature ventricular contraction, Ventricular tachycardia, Palpitations, Presyncope, Congestive ... |
OMIM:604400 |
Spinocerebellar Ataxia 29 |
|
Dysmetria, Impaired tandem gait, Intention tremor, Cerebellar vermis atrophy, Cerebellar vermis h... |
OMIM:117360 |
Epilepsy, Familial Temporal Lobe, 5 |
|
Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Visually-induced seizure, Focal... |
OMIM:614417 |
Long Qt Syndrome 1 |
|
Syncope, Prolonged QT interval, Torsade de pointes, Prolonged QTc interval, Sudden cardiac death,... |
OMIM:192500 |
Wolff-Parkinson-White Syndrome |
|
Syncope, Ventricular preexcitation, Palpitations, Ventricular preexcitation with multiple accesso... |
OMIM:194200 |
Brugada Syndrome |
|
Paroxysmal ventricular tachycardia, Syncope, Ventricular arrhythmia, Supraventricular tachycardia... |
ORPHA:130 |
Mental Retardation, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
Spinocerebellar Ataxia 38 |
|
Ataxia, Limb ataxia, Cerebellar atrophy, Gait ataxia |
OMIM:615957 |
Tremor, Hereditary Essential, 4 |
|
Postural tremor, Action tremor |
OMIM:614782 |
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Tremor, Ataxia |
OMIM:213000 |
Spinocerebellar Ataxia 11 |
|
Progressive cerebellar ataxia, Cerebellar atrophy |
OMIM:604432 |
Brugada Syndrome 3 |
|
Syncope, Shortened QT interval, Atrial fibrillation, Ventricular arrhythmia, J wave, Sudden cardi... |
OMIM:611875 |
Spinocerebellar Ataxia, Autosomal Recessive 24 |
|
Spastic gait, Cerebellar atrophy, Limb ataxia, Gait ataxia |
OMIM:617133 |
Atrial Standstill 1 |
|
Atrial standstill, Ventricular escape rhythm, Atrial cardiomyopathy, First degree atrioventricula... |
OMIM:108770 |
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Dilated cardiomyopathy, Premature ventricular contraction, Sinus bradycardia, Atrial fibrillation... |
OMIM:616117 |
Cerebellar Ataxia, Cayman Type |
|
Intention tremor, Nonprogressive cerebellar ataxia, Truncal ataxia, Broad-based gait, Cerebellar ... |
ORPHA:94122 |
Progressive Familial Heart Block, Type Ia |
|
Syncope, Complete heart block with broad QRS complexes, Left anterior fascicular block, Right bun... |
OMIM:113900 |
Hydrocephaly-Cerebellar Agenesis Syndrome |
|
Cerebellar agenesis, Ataxia |
ORPHA:1397 |
Generalized Epilepsy With Febrile Seizures Plus, Type 1 |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (absence) se... |
OMIM:604233 |
Spinocerebellar Ataxia 31 |
|
Ataxia, Limb ataxia, Cerebellar atrophy, Gait ataxia |
OMIM:117210 |
Chronic Atrial And Intestinal Dysrhythmia |
|
Atrial fibrillation, Mitral regurgitation, Bradycardia, Pulmonic stenosis, Atrial flutter, Sick s... |
OMIM:616201 |
Charcot-Marie-Tooth Disease, X-Linked Dominant, 6 |
|
Hand tremor, Somatic sensory dysfunction |
OMIM:300905 |
Ceroid Lipofuscinosis, Neuronal, 7 |
|
Cerebellar atrophy, Neurodegeneration, Ataxia, EEG abnormality, Cerebral atrophy |
OMIM:610951 |
Generalized Epilepsy With Febrile Seizures Plus, Type 7 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... |
OMIM:613863 |
Spinocerebellar Ataxia 43 |
|
Rigidity, Distal sensory impairment, Cerebellar vermis atrophy, Tremor, Ataxia, Limb ataxia, Gait... |
OMIM:617018 |
Muscular Dystrophy, Becker Type |
|
Abnormal EKG, Arrhythmia, Cardiomyopathy |
OMIM:300376 |
Long Qt Syndrome 13 |
|
Syncope, Hypertension, Prolonged QT interval, Atrial fibrillation, Atrioventricular block, Tachyc... |
OMIM:613485 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 10 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo... |
OMIM:613060 |
Familial Infantile Bilateral Striatal Necrosis |
|
Gait disturbance, Dystonia, Babinski sign, Rigidity, Choreoathetosis, Frequent falls, Myoclonus, ... |
ORPHA:225154 |
Intellectual Developmental Disorder, X-Linked 100 |
|
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure |
OMIM:300923 |
Spinocerebellar Ataxia 30 |
|
Ataxia, Cerebellar atrophy |
OMIM:613371 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy |
|
Dilated cardiomyopathy, Syncope, Atrial standstill, Ventricular tachycardia, Atrioventricular blo... |
OMIM:604772 |
Neurodegeneration With Brain Iron Accumulation 8 |
|
Cerebellar atrophy, Dysmetria, Loss of ability to walk, Ataxia, Tremor, Unsteady gait |
OMIM:617917 |
Diaminopentanuria |
|
Neurodegeneration, Ataxia, Spasticity |
OMIM:222350 |
Dravet Syndrome |
|
Focal hemiclonic seizure, Bilateral tonic-clonic seizure, Myoclonic seizure, Focal impaired aware... |
OMIM:607208 |
Jervell And Lange-Nielsen Syndrome 2 |
|
Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QT interval |
OMIM:612347 |
Cardiomyopathy, Dilated, 1G |
|
Dilated cardiomyopathy, Reduced ejection fraction, Atrial fibrillation, Ventricular tachycardia, ... |
OMIM:604145 |
Developmental And Epileptic Encephalopathy 32 |
|
Tremor, Ataxia, Myoclonus |
OMIM:616366 |
Cardiomyopathy, Dilated, 1A |
|
Dilated cardiomyopathy, Third degree atrioventricular block, Sinus bradycardia, Atrial fibrillati... |
OMIM:115200 |
Autism, Susceptibility To, 20 |
|
Attention deficit hyperactivity disorder |
OMIM:618830 |
Intellectual Developmental Disorder, X-Linked 41 |
|
Generalized non-motor (absence) seizure |
OMIM:300849 |
Episodic Ataxia, Type 8 |
|
Ataxia, Episodic ataxia, Slurred speech, Intention tremor |
OMIM:616055 |
Catecholaminergic Polymorphic Ventricular Tachycardia |
|
Sudden cardiac death, Syncope, Ventricular tachycardia |
ORPHA:3286 |
Epilepsy, Progressive Myoclonic, 11 |
|
Cerebellar atrophy, Rigidity, Giant somatosensory evoked potentials, Myoclonus, Intention tremor,... |
OMIM:618876 |
Romano-Ward Syndrome |
|
Syncope, Sinus bradycardia, Abnormal T-wave, Ventricular arrhythmia, Torsade de pointes, Prolonge... |
ORPHA:101016 |
Atrial Standstill |
|
Syncope, Abnormal P wave, Atrial standstill, Reduced ejection fraction, Ventricular escape rhythm... |
ORPHA:1344 |
Spinocerebellar Ataxia, X-Linked 5 |
|
Ataxia, Action tremor |
OMIM:300703 |
Epilepsy, Childhood Absence, Susceptibility To, 5 |
|
Generalized non-motor (absence) seizure |
OMIM:612269 |
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Arrhythmia, Bradycardia, Atrial fibrillation |
OMIM:614302 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Paroxysmal ventricular tachycardia, Syncope, Premature ventricular contraction, Prolonged QT inte... |
OMIM:614021 |
Cardiomyopathy, Familial Hypertrophic, 6 |
|
Hypertrophic cardiomyopathy, Sinus bradycardia, Atrial fibrillation, Ventricular preexcitation, A... |
OMIM:600858 |
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness |
|
Premature ventricular contraction, Syncope, Shock, Prolonged QT interval, Polymorphic ventricular... |
OMIM:615441 |
Lennox-Gastaut Syndrome |
|
Bilateral tonic-clonic seizure, Myoclonus, EEG with focal sharp slow waves, Atonic seizure, EEG a... |
ORPHA:2382 |
Long Qt Syndrome 12 |
|
Syncope, Torsade de pointes, Prolonged QTc interval, Ventricular fibrillation |
OMIM:612955 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 15 |
|
Bilateral tonic-clonic seizure, Myoclonus, Seizure, Eyelid myoclonus, Generalized non-motor (abse... |
OMIM:618357 |
Generalized Epilepsy With Febrile Seizures Plus, Type 10 |
|
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (ab... |
OMIM:618482 |
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Absence seizure with eyelid myoclonia, Bilateral tonic-clonic seizure, Myoclonus, Focal impaired ... |
OMIM:618587 |
Short Qt Syndrome 1 |
|
Syncope, Shortened QT interval, Palpitations, Cardiac arrest, Sudden cardiac death, Paroxysmal at... |
OMIM:609620 |
Immunodeficiency 8 |
|
Hyperactivity |
OMIM:615401 |
Cardiomyopathy, Dilated, 1E |
|
Dilated cardiomyopathy, Syncope, Premature ventricular contraction, Atrial standstill, Atrial fib... |
OMIM:601154 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4 |
|
Ventricular tachycardia, Syncope, Cardiac arrest |
OMIM:614916 |
Sporadic Creutzfeldt-Jakob Disease |
|
Babinski sign, Neuronal loss in central nervous system, Gliosis, Myoclonus, Hypsarrhythmia, Abnor... |
ORPHA:204 |
Idiopathic Neonatal Atrial Flutter |
|
Abnormal QRS complex, Reduced ejection fraction, Supraventricular tachycardia, Abnormal atriovent... |
ORPHA:45452 |
Spastic Paraplegia 80, Autosomal Dominant |
|
Gait disturbance, Babinski sign, Ataxia, Spastic paraplegia, Abnormal cerebellum morphology |
OMIM:618418 |
Spinocerebellar Ataxia, Autosomal Recessive 22 |
|
Cerebellar atrophy, Dysmetria, Lower limb spasticity, Intention tremor, Ataxia, Truncal ataxia, U... |
OMIM:616948 |
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome |
|
Arrhythmia, Bundle branch block |
ORPHA:1479 |
Cardiomyopathy, Dilated, 1P |
|
Dilated cardiomyopathy, Reduced systolic function, Congestive heart failure, Ventricular arrhythmia |
OMIM:609909 |
Spinocerebellar Ataxia 40 |
|
Pontocerebellar atrophy, Dysmetria, Intention tremor, Dysdiadochokinesis, Broad-based gait, Unste... |
OMIM:616053 |
Developmental And Epileptic Encephalopathy 56 |
|
Poor coordination, Ataxia, EEG abnormality, Broad-based gait, Attention deficit hyperactivity dis... |
OMIM:617665 |
Autosomal Recessive Spastic Paraplegia Type 71 |
|
Babinski sign, Hand tremor, Spastic gait, Lower limb spasticity, Progressive spastic paraplegia |
ORPHA:401840 |
Brugada Syndrome 6 |
|
Cardiac arrest, ST segment elevation, Ventricular fibrillation |
OMIM:613119 |
Parkinsonism With Spasticity, X-Linked |
|
Babinski sign, Cogwheel rigidity, Bradykinesia, Resting tremor, Spasticity, Parkinsonism |
OMIM:300911 |
Olivopontocerebellar Atrophy-Deafness Syndrome |
|
Ataxia, Olivopontocerebellar atrophy, Hypertonia, EEG abnormality, Cerebral cortical atrophy |
ORPHA:2732 |
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome |
|
EEG with spike-wave complexes (>3.5 Hz), Generalized-onset seizure, Generalized non-motor (absenc... |
ORPHA:79137 |
Microcephaly 25, Primary, Autosomal Recessive |
|
Attention deficit hyperactivity disorder |
OMIM:618351 |
Parkinson Disease 13, Autosomal Dominant, Susceptibility To |
|
Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Rigidity |
OMIM:610297 |
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia |
|
Clumsiness, Babinski sign, Cerebellar atrophy, Dysmetria, Progressive gait ataxia, Intention trem... |
ORPHA:284332 |
Muscular Dystrophy, Cardiac Type |
|
Abnormal EKG, Cardiomyopathy |
OMIM:309930 |
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis |
|
Tremor, Spastic paraplegia |
OMIM:309560 |
Ventricular Tachycardia, Familial |
|
Paroxysmal ventricular tachycardia, Sudden cardiac death, Right bundle branch block |
OMIM:192605 |
Developmental And Epileptic Encephalopathy 67 |
|
Hypsarrhythmia, Seizure, EEG abnormality, Generalized myoclonic seizure, Generalized non-motor (a... |
OMIM:618141 |
Brugada Syndrome 2 |
|
Syncope, Right bundle branch block, First degree atrioventricular block, Ventricular fibrillation... |
OMIM:611777 |
Lichtenstein-Knorr Syndrome |
|
Cerebellar atrophy, Dysmetria, Ataxia, Dysdiadochokinesis, Action tremor, Limb ataxia, Gait ataxia |
OMIM:616291 |
Epilepsy, Familial Adult Myoclonic, 1 |
|
Jerk-locked premyoclonus spikes, Bilateral tonic-clonic seizure, EEG with photoparoxysmal respons... |
OMIM:601068 |
Progressive Non-Fluent Aphasia |
|
Temporal cortical atrophy, Abnormality of extrapyramidal motor function, Senile plaques, Astrocyt... |
ORPHA:100070 |
Nathalie Syndrome |
|
Arrhythmia |
ORPHA:2663 |
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4 |
|
Generalized myoclonic seizure, EEG with polyspike wave complexes, Bilateral tonic-clonic seizure |
OMIM:611364 |
Spinocerebellar Ataxia 35 |
|
Babinski sign, Cerebellar atrophy, Torticollis, Dysmetria, Intention tremor, Ataxia, Incoordinati... |
OMIM:613908 |
Spinocerebellar Ataxia Type 40 |
|
Pontocerebellar atrophy, Dysmetria, Intention tremor, Dysdiadochokinesis, Broad-based gait, Unste... |
ORPHA:423275 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 |
|
Syncope, Ventricular arrhythmia, Palpitations, Sudden cardiac death, Right ventricular cardiomyop... |
OMIM:610476 |
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type) |
|
Increased neuronal autofluorescent lipopigment, Myoclonus, Abnormality of extrapyramidal motor fu... |
OMIM:162350 |
Intellectual Developmental Disorder With Seizures And Language Delay |
|
Increased theta frequency activity in EEG, Bilateral tonic-clonic seizure, EEG with spike-wave co... |
OMIM:619000 |
Female Restricted Epilepsy With Intellectual Disability |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... |
ORPHA:101039 |
Brugada Syndrome 7 |
|
Atrial flutter, ST segment elevation |
OMIM:613120 |
Developmental And Epileptic Encephalopathy 18 |
|
EEG abnormality, Generalized-onset seizure, Generalized non-motor (absence) seizure, Focal-onset ... |
OMIM:615476 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Gait disturbance, Dystonia, Babinski sign, Rigidity, Neuronal loss in central nervous system, Myo... |
OMIM:600795 |
Spinocerebellar Ataxia Type 35 |
|
Babinski sign, Cerebellar atrophy, Pseudobulbar paralysis, Torticollis, Dysmetria, Intention trem... |
ORPHA:276193 |
Ventricular Fibrillation, Paroxysmal Familial, 1 |
|
Syncope, Tachycardia, Ventricular fibrillation |
OMIM:603829 |
Paroxysmal Extreme Pain Disorder |
|
Tachycardia, Bradycardia |
OMIM:167400 |
Epilepsy, Juvenile Myoclonic, Susceptibility To, 9 |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (absence) se... |
OMIM:614280 |
Landau-Kleffner Syndrome |
|
EEG with temporal focal spikes, Non-convulsive status epilepticus without coma, Bilateral tonic-c... |
ORPHA:98818 |
Spinocerebellar Ataxia Type 37 |
|
Gait disturbance, Diffuse cerebellar atrophy, Myoclonus, Falls, Cogwheel rigidity, Limb dysmetria... |
ORPHA:363710 |
Familial Progressive Cardiac Conduction Defect |
|
Syncope, Heart block, Bundle branch block, Congestive heart failure, Arrhythmia |
ORPHA:871 |
Brugada Syndrome 8 |
|
Ventricular tachycardia, ST segment elevation, Right bundle branch block |
OMIM:613123 |
Myopathy, Myofibrillar, 1 |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Third degree atrioventricular block, Restric... |
OMIM:601419 |
Ceroid Lipofuscinosis, Neuronal, 11 |
|
Ataxia, Cerebellar atrophy, EEG abnormality |
OMIM:614706 |
Parkinson Disease 11, Autosomal Dominant, Susceptibility To |
|
Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Bradykinesia, Ri... |
OMIM:607688 |
Dystonia With Cerebellar Atrophy |
|
Dystonia, Cerebellar atrophy, Torticollis, Craniofacial dystonia, Progressive cerebellar ataxia |
OMIM:611694 |
Epilepsy, Familial Temporal Lobe, 3 |
|
Deja vu aura, Bilateral tonic-clonic seizure with focal onset, Focal impaired awareness seizure |
OMIM:611630 |
Lissencephaly 10 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, To... |
OMIM:618873 |
Epilepsy, Progressive Myoclonic 7 |
|
Tremor, Ataxia, Myoclonus |
OMIM:616187 |
X-Linked Spinocerebellar Ataxia Type 4 |
|
Postural tremor, Progressive cerebellar ataxia, Abnormal pyramidal sign |
ORPHA:85292 |
Intellectual Developmental Disorder, Autosomal Recessive 6 |
|
Involuntary movements, Myoclonus, Tremor |
OMIM:611092 |
Ceroid Lipofuscinosis, Neuronal, 5 |
|
Clumsiness, Cerebellar atrophy, Increased neuronal autofluorescent lipopigment, Dysmetria, Myoclo... |
OMIM:256731 |
Long-Thumb Brachydactyly Syndrome |
|
Arrhythmia |
OMIM:112430 |
Sudden Cardiac Failure, Infantile |
|
Hypertrophic cardiomyopathy, Congestive heart failure, Bradycardia, Myocarditis |
OMIM:617222 |
Brugada Syndrome 1 |
|
Syncope, Atrial fibrillation, Supraventricular tachycardia with an accessory connection mediated ... |
OMIM:601144 |
Ceroid Lipofuscinosis, Neuronal, 2 |
|
Increased extraneuronal autofluorescent lipopigment, Increased neuronal autofluorescent lipopigme... |
OMIM:204500 |
Spinocerebellar Ataxia 23 |
|
Babinski sign, Cerebellar atrophy, Dysmetria, Neuronal loss in central nervous system, Tremor, Im... |
OMIM:610245 |
Congenital Left Ventricular Aneurysm |
|
Abnormal ST segment, Abnormal T-wave, Arrhythmia, Congestive heart failure |
ORPHA:1055 |
Chromosome Xp11.23-P11.22 Duplication Syndrome |
|
EEG abnormality, Generalized non-motor (absence) seizure |
OMIM:300801 |
Spinocerebellar Ataxia Type 38 |
|
Tremor, Gait ataxia, Somatic sensory dysfunction |
ORPHA:423296 |
Spinocerebellar Ataxia 46 |
|
Cerebellar atrophy, Dysmetria, Positive Romberg sign, Limb ataxia, Gait ataxia |
OMIM:617770 |
Heart-Hand Syndrome, Slovenian Type |
|
Dilated cardiomyopathy, Abnormal atrioventricular conduction, Abnormal electrophysiology of sinoa... |
ORPHA:168796 |
Autosomal Spastic Paraplegia Type 72 |
|
Postural tremor, Impaired vibration sensation at ankles, Spastic gait, Rigidity |
ORPHA:401849 |
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Torticollis, Chorea, Tremor, Ataxia, Hyperkinetic movements |
OMIM:618425 |
Epilepsy, Progressive Myoclonic, 1B |
|
Dysmetria, Babinski sign, Tremor |
OMIM:612437 |
Inherited Creutzfeldt-Jakob Disease |
|
Central nervous system degeneration, Clumsiness, Babinski sign, Chorea, Global brain atrophy, Neu... |
ORPHA:282166 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Dystonia, Babinski sign, Cerebellar atrophy, Dysmetria, Neurodegeneration, Axonal degeneration, B... |
OMIM:615157 |
Spinocerebellar Ataxia, Autosomal Recessive 15 |
|
Unsteady gait, Ataxia, Cerebellar atrophy, Gait ataxia |
OMIM:615705 |
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Tremor, Babinski sign, Ataxia, Spasticity |
OMIM:611105 |
Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Frequent falls, Chorea, Tremor, Hyperkinetic movements, Hemiballismus |
OMIM:616921 |
Spinocerebellar Ataxia Type 23 |
|
Impaired proprioception, Babinski sign, Dysmetria, Progressive cerebellar ataxia, Impaired distal... |
ORPHA:101108 |
Short Qt Syndrome 3 |
|
Palpitations, Shortened QT interval, Tachycardia |
OMIM:609622 |
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy |
|
Bilateral tonic-clonic seizure, Interictal epileptiform activity, Myoclonic seizure, Seizure, Foc... |
OMIM:619157 |
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Tremor, Chorea, Hemiballismus, Frequent falls |
ORPHA:494526 |
Neurodegeneration, Childhood-Onset, With Brain Atrophy |
|
Parkinsonism, Dystonia, Cerebellar atrophy, Rigidity, Neurodegeneration, Chorea, Abnormality of e... |
OMIM:617672 |
Myoclonic Epilepsy Of Infancy |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, My... |
ORPHA:86909 |
Spinocerebellar Ataxia Type 12 |
|
Postural tremor, Gait disturbance, Parkinsonism, Cerebellar atrophy, Tremor by anatomical site, B... |
ORPHA:98762 |
Glycogen Storage Disease Xv |
|
Ventricular arrhythmia, Right bundle branch block |
OMIM:613507 |
Progressive Myoclonic Epilepsy Type 1 |
|
Morning myoclonic jerks, Myoclonus, Intention tremor, Ataxia, Limb ataxia |
ORPHA:308 |
Hyperinsulinism-Hyperammonemia Syndrome |
|
EEG with generalized epileptiform discharges, Generalized-onset seizure, Generalized non-motor (a... |
ORPHA:35878 |
Pachygyria With Mental Retardation, Seizures, And Arachnoid Cysts |
|
Atypical absence seizure, Bilateral tonic-clonic seizure |
OMIM:600176 |
Atrial Fibrillation, Familial, 7 |
|
Palpitations, Paroxysmal atrial fibrillation, Prolonged QTc interval, Prolonged PR interval |
OMIM:612240 |
Tako-Tsubo Cardiomyopathy |
|
Syncope, Ventricular arrhythmia, Mildly reduced ejection fraction, ST segment depression, Low-out... |
ORPHA:66529 |
Leukodystrophy, Hypomyelinating, 11 |
|
Tremor, Ataxia, Cerebellar atrophy, Spasticity |
OMIM:616494 |
Spinocerebellar Ataxia, Autosomal Recessive 10 |
|
Cerebellar atrophy, Dysmetria, Fasciculations, Intention tremor, Truncal ataxia, Limb ataxia, Gai... |
OMIM:613728 |
Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Abnormality of extrapyramidal motor function, Tremor, Ataxia, Spasticity, Hemiplegia, Abnormal py... |
OMIM:614561 |
Behavioral Variant Of Frontotemporal Dementia |
|
Gait disturbance, Abnormality of extrapyramidal motor function, Fasciculations, Stereotypy, Astro... |
ORPHA:275864 |
Spinocerebellar Ataxia, Autosomal Recessive 12 |
|
Babinski sign, Cerebellar atrophy, Ataxia, Spasticity, Limb ataxia, Gait ataxia |
OMIM:614322 |
Cardiomyopathy, Dilated, 1O |
|
Dilated cardiomyopathy, Impaired myocardial contractility, Ventricular tachycardia |
OMIM:608569 |
Polymicrogyria, Bilateral Perisylvian, X-Linked |
|
Atypical absence seizure, Bilateral tonic-clonic seizure |
OMIM:300388 |
Brugada Syndrome 5 |
|
Ventricular fibrillation, ST segment elevation, Bundle branch block |
OMIM:612838 |
Myoclonic-Atonic Epilepsy |
|
Tremor, Ataxia, Eyelid myoclonus |
OMIM:616421 |
Brugada Syndrome 4 |
|
Syncope, Shortened QT interval, Atrial fibrillation |
OMIM:611876 |
Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Babinski sign, Cerebellar atrophy, Tremor, Truncal ataxia, Cerebellar hypoplasia, Spasticity, Uns... |
OMIM:615768 |
Epilepsy, Progressive Myoclonic, 6 |
|
Seizure, Myoclonus, Generalized non-motor (absence) seizure, Atonic seizure |
OMIM:614018 |
Pyridoxine-Dependent Epilepsy |
|
Bilateral tonic-clonic seizure, EEG with generalized epileptiform discharges, Early onset absence... |
ORPHA:3006 |
Cardiomyopathy, Familial Hypertrophic, 13 |
|
Hypertrophic cardiomyopathy, Syncope, Atrial fibrillation, ST segment depression, Left anterior f... |
OMIM:613243 |
Mental Retardation, Autosomal Dominant 33 |
|
Hyperactivity, Decreased body weight |
OMIM:616311 |
Spinocerebellar Ataxia, Autosomal Recessive 6 |
|
Clumsiness, Cerebellar atrophy, Dysmetria, Intention tremor, Ataxia, Spasticity, Gait ataxia |
OMIM:608029 |
Tremor, Hereditary Essential, 2 |
|
Upper limb postural tremor, Kinetic tremor |
OMIM:602134 |
Epilepsy, Familial Temporal Lobe, 4 |
|
Focal aware seizure, Focal sensory seizure with visual features, Focal impaired awareness seizure |
OMIM:611631 |
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Babinski sign, Cerebellar atrophy, Myoclonus, Abnormality of extrapyramidal motor function, Tremo... |
OMIM:615362 |
Episodic Kinesigenic Dyskinesia 2 |
|
Involuntary movements, Paroxysmal dyskinesia, Chorea |
OMIM:611031 |
Benign Occipital Epilepsy |
|
EEG with occipital focal spike waves, Focal impaired awareness seizure |
ORPHA:25968 |
Neuronopathy, Distal Hereditary Motor, Type Viia |
|
Tremor, Vocal cord paralysis, Vocal cord paresis |
OMIM:158580 |
Myoclonus-Cerebellar Ataxia-Deafness Syndrome |
|
Progressive cerebellar ataxia, Myoclonus, Progressive gait ataxia, Intention tremor |
ORPHA:2589 |
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities |
|
Abnormal EKG, Pulmonic stenosis |
OMIM:178650 |
Peripheral Neuropathy, Ataxia, Focal Necrotizing Encephalopathy, And Spongy Degeneration Of Brain |
|
Ataxia, Cerebral degeneration |
OMIM:260970 |
Spinocerebellar Ataxia, Autosomal Recessive 25 |
|
Dysmetria, Ataxia, Truncal ataxia, Cerebellar hypoplasia |
OMIM:617584 |
Atrial Fibrillation, Familial, 14 |
|
Prolonged PR interval, Hypertension, Paroxysmal atrial fibrillation, ST segment elevation |
OMIM:615378 |
Generalized Epilepsy With Febrile Seizures-Plus |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, EE... |
ORPHA:36387 |
Spastic Ataxia 2, Autosomal Recessive |
|
Babinski sign, Head titubation, Frequent falls, Dysmetria, Fasciculations, Spastic ataxia, Tremor... |
OMIM:611302 |
Cardiomyopathy, Dilated, 1B |
|
Dilated cardiomyopathy, Impaired myocardial contractility, Congestive heart failure, Ventricular ... |
OMIM:600884 |
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome |
|
Impaired proprioception, Myoclonus, Fasciculations, Progressive cerebellar ataxia, Abnormal lower... |
ORPHA:95434 |
Congenital Heart Defects, Multiple Types, 3 |
|
Atrial fibrillation, Atrioventricular dissociation, Atrioventricular block, Tachycardia, Right bu... |
OMIM:614954 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 |
|
Ventricular tachycardia, Bundle branch block |
OMIM:615616 |
Neurodegeneration Due To Cerebral Folate Transport Deficiency |
|
Neurodegeneration |
OMIM:613068 |
Cardiomyopathy, Familial Hypertrophic, 8 |
|
Hypertrophic cardiomyopathy, Palpitations, Restrictive cardiomyopathy, Cardiac arrest, Congestive... |
OMIM:608751 |
Neurodegeneration With Brain Iron Accumulation 7 |
|
Cerebellar atrophy, Dysmetria, Loss of ability to walk, Ataxia, Spasticity, Cerebral atrophy |
OMIM:617916 |
Spinocerebellar Ataxia, Autosomal Recessive 17 |
|
Dysmetria, Tremor, Truncal ataxia, Cerebellar hypoplasia, Unsteady gait |
OMIM:616127 |
Camos Syndrome |
|
Progressive extrapyramidal movement disorder, Ataxia, Aplasia/Hypoplasia of the cerebellum, Brain... |
ORPHA:83472 |
Spinocerebellar Ataxia, Autosomal Recessive 26 |
|
Cerebellar atrophy, Dysmetria, Positive Romberg sign, Distal sensory impairment, Oculomotor aprax... |
OMIM:617633 |
Neurodegeneration With Brain Iron Accumulation 5 |
|
Dystonia, Cerebellar atrophy, Rigidity, Neurodegeneration, Abnormality of extrapyramidal motor fu... |
OMIM:300894 |
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration |
|
Dystonia, Babinski sign, Cerebellar atrophy, Dysmetria, Atrophy/Degeneration affecting the brains... |
OMIM:612319 |
Atrial Standstill 2 |
|
Atrial standstill, Palpitations, Cardiomyopathy, Bradycardia, Atrial cardiomyopathy, Absent P wav... |
OMIM:615745 |
Segawa Syndrome, Autosomal Recessive |
|
Rigidity, Myoclonus, Abnormality of extrapyramidal motor function, Tremor, Parkinsonism with favo... |
OMIM:605407 |
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome |
|
Gait disturbance, Cerebellar atrophy, Ataxia, Truncal ataxia, Unsteady gait, Limb ataxia |
ORPHA:284271 |
Myoclonus, Familial, 1 |
|
Ataxia, Myoclonus, Falls, Frequent falls |
OMIM:614937 |
Spinocerebellar Ataxia, X-Linked 4 |
|
Tremor, Ataxia, Abnormal pyramidal sign |
OMIM:301840 |
Seizures, Benign Familial Infantile, 1 |
|
Normal interictal EEG, Focal impaired awareness seizure, Bilateral tonic-clonic seizure with foca... |
OMIM:601764 |
Gordon Holmes Syndrome |
|
Ataxia, Cerebellar atrophy, Cerebral atrophy |
OMIM:212840 |
Dystonia 23 |
|
Gait disturbance, Cerebellar atrophy, Axial dystonia, Writer's cramp, Torticollis, Myoclonus, Hea... |
OMIM:614860 |
Benign Adult Familial Myoclonic Epilepsy |
|
Myoclonus, Generalized-onset seizure, EEG abnormality, Focal-onset seizure |
ORPHA:86814 |
Spinocerebellar Ataxia, Autosomal Recessive 27 |
|
Cerebellar atrophy, Frequent falls, Torticollis, Gliosis, Spasticity, Cerebral atrophy, Gait ataxia |
OMIM:618369 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14 |
|
Premature ventricular contraction, Ventricular tachycardia, Palpitations, Left bundle branch bloc... |
OMIM:618920 |
Spastic Paraplegia 30, Autosomal Dominant |
|
Babinski sign, Cerebellar atrophy, Dysmetria, Spastic gait, Lower limb spasticity, Ataxia, Ankle ... |
OMIM:610357 |
Developmental And Epileptic Encephalopathy 43 |
|
Hyperactivity, Ataxia |
OMIM:617113 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Premature ventricular contraction, Ventricular tachycardia, Palpitations, Sudden cardiac death, R... |
OMIM:610193 |
Atrial Fibrillation, Familial, 4 |
|
Atrial fibrillation, Palpitations, Permanent atrial fibrillation, Premature atrial contractions, ... |
OMIM:611493 |
Developmental And Epileptic Encephalopathy 52 |
|
Focal hemiclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Seizure,... |
OMIM:617350 |
Atrial Tachyarrhythmia With Short Pr Interval |
|
Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Paroxysmal atrial tachycardia, Sho... |
OMIM:108950 |
X-Linked Intellectual Disability-Plagiocephaly Syndrome |
|
Bradycardia |
ORPHA:2898 |
Spinocerebellar Ataxia Type 17 |
|
Involuntary movements, Gait disturbance, Dystonia, Cerebellar atrophy, Parkinsonism, Rigidity, Wr... |
ORPHA:98759 |
Autosomal Dominant Epilepsy With Auditory Features |
|
EEG with focal epileptiform discharges, Bilateral tonic-clonic seizure, Nocturnal seizures, Inter... |
ORPHA:101046 |
Neurodegeneration With Brain Iron Accumulation 6 |
|
Gait disturbance, Dystonia, Rigidity, Neurodegeneration, Oromandibular dystonia, Bradykinesia, Sp... |
OMIM:615643 |
Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Generalized myoclonic seizure, EEG abnormality, Bilateral tonic-clonic seizure, Myoclonic absence... |
OMIM:617836 |
Cardiomyopathy, Familial Hypertrophic, 10 |
|
Hypertrophic cardiomyopathy, Systolic anterior motion of the mitral valve, Ventricular tachycardi... |
OMIM:608758 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Gait disturbance, Cerebellar atrophy, Rigidity, Dysmetria, Tremor, Hyperactivity, Inability to walk |
OMIM:618090 |
X-Linked Non Progressive Cerebellar Ataxia |
|
Clumsiness, Frequent falls, Spastic dysarthria, Intention tremor, Cerebellar vermis hypoplasia, N... |
ORPHA:314978 |
Cardiomyopathy, Familial Hypertrophic, 1 |
|
Arrhythmia, Congestive heart failure, Asymmetric septal hypertrophy |
OMIM:192600 |
Spinocerebellar Ataxia Type 20 |
|
Kinetic tremor, Tremor by anatomical site, Bradykinesia, Isometric tremor, Intention tremor, Atax... |
ORPHA:101110 |
Cardiomyopathy, Familial Hypertrophic, 12 |
|
Ventricular tachycardia, Paroxysmal atrial fibrillation, Cardiomyopathy, Sudden cardiac death |
OMIM:612124 |
Huntington Disease |
|
Cerebellar atrophy, Rigidity, Chorea, Neuronal loss in central nervous system, Gliosis, Bradykine... |
OMIM:143100 |
Spastic Ataxia-Corneal Dystrophy Syndrome |
|
Gait disturbance, Spastic ataxia, Aplasia/Hypoplasia of the cerebellum, Ataxia, Hemiplegia/hemipa... |
ORPHA:2572 |
Atrial Fibrillation, Familial, 1 |
|
Tachycardia, Atrial fibrillation |
OMIM:608583 |
Atrial Fibrillation, Familial, 3 |
|
Tachycardia, Atrial fibrillation |
OMIM:607554 |
Spinocerebellar Ataxia, X-Linked 1 |
|
Ataxia, Cerebellar atrophy, Action tremor, Intention tremor |
OMIM:302500 |
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type) |
|
Increased neuronal autofluorescent lipopigment, Myoclonus, Abnormality of extrapyramidal motor fu... |
OMIM:204300 |
Developmental And Epileptic Encephalopathy 6B |
|
Focal hemiclonic seizure, Generalized non-motor (absence) seizure, Tonic seizure, Bilateral tonic... |
OMIM:619317 |
Epilepsy, Familial Adult Myoclonic, 5 |
|
Seizure, Focal sensory seizure with visual features, Bilateral tonic-clonic seizure, Focal sensor... |
OMIM:615400 |
Behr Syndrome |
|
Progressive spasticity, Gait disturbance, Babinski sign, Cerebellar atrophy, Dysmetria, Tremor, A... |
OMIM:210000 |
Spinocerebellar Ataxia 18 |
|
Babinski sign, Cerebellar atrophy, Dysmetria, Progressive gait ataxia, Tremor, Dysdiadochokinesis |
OMIM:607458 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 |
|
Premature ventricular contraction, Ventricular tachycardia, Congestive heart failure, Sudden card... |
OMIM:607450 |
Cardiomyopathy, Dilated, 1Dd |
|
Dilated cardiomyopathy, Congestive heart failure, Sudden cardiac death |
OMIM:613172 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Cerebellar atrophy, Atrophy/Degeneration affecting the brainstem, Stereotypy, Tremor, Ataxia, Cer... |
OMIM:617862 |
Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Dysmetria, Gliosis, Tremor, Ataxia, Incoordination, Cerebellar hypoplasia, Spasticity, Unsteady g... |
OMIM:213200 |
Striatal Degeneration, Autosomal Dominant 1 |
|
Gait disturbance, Rigidity, Degeneration of the striatum, Bradykinesia, Dysdiadochokinesis |
OMIM:609161 |
Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Seizure, Generalized non-motor (absence) seizure, Atonic seizure |
OMIM:610293 |
Autosomal Recessive Spastic Ataxia With Leukoencephalopathy |
|
Dystonia, Dysmetria, Spastic dysarthria, Spastic ataxia, Progressive cerebellar ataxia, Cerebella... |
ORPHA:314603 |
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Rigidity, Chorea, Myoclonus, Tremor, Ataxia, Upper motor neuron dysfunction, Parkinsonism |
ORPHA:401901 |
Developmental And Epileptic Encephalopathy 37 |
|
Gait disturbance, Cerebellar atrophy, Rigidity, Choreoathetosis, Myoclonus, Hyperkinetic movement... |
OMIM:616981 |
Ataxia-Oculomotor Apraxia 4 |
|
Dystonia, Cerebellar atrophy, Tetraplegia, Ataxia, Oculomotor apraxia |
OMIM:616267 |
Spinocerebellar Ataxia Type 26 |
|
Babinski sign, Cerebellar atrophy, Progressive gait ataxia, Progressive cerebellar ataxia, Trunca... |
ORPHA:101112 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Dilated cardiomyopathy, Atrial fibrillation, Atrioventricular block, Supraventricular tachycardia... |
OMIM:612158 |
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia |
|
Postural tremor, Babinski sign, Clumsiness, Cerebellar atrophy, Dysmetria, Progressive gait ataxi... |
ORPHA:284324 |
Spinocerebellar Ataxia, Autosomal Recessive 7 |
|
Postural tremor, Babinski sign, Clumsiness, Cerebellar atrophy, Ataxia, Impaired vibratory sensat... |
OMIM:609270 |
Sick Sinus Syndrome 2 |
|
Sinus bradycardia, Atrial fibrillation, Aortic regurgitation, Cardiac arrest, Sick sinus syndrome... |
OMIM:163800 |
Autism Spectrum Disorder-Epilepsy-Arthrogryposis Syndrome |
|
Generalized non-motor (absence) seizure |
ORPHA:370943 |
Spinocerebellar Ataxia 19 |
|
Postural tremor, Cerebellar atrophy, Myoclonus, Cogwheel rigidity, Progressive cerebellar ataxia,... |
OMIM:607346 |
Dravet Syndrome |
|
Generalized clonic seizure, Focal hemiclonic seizure, Photosensitive myoclonic seizure, Febrile s... |
ORPHA:33069 |
Spinocerebellar Ataxia 4 |
|
Babinski sign, Cerebellar atrophy, Limb dysmetria, Distal sensory impairment, Progressive cerebel... |
OMIM:600223 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Dilated cardiomyopathy, Syncope, Atrial fibrillation, Ventricular arrhythmia, Cardiac conduction ... |
ORPHA:300751 |
Spastic Paraplegia, Ataxia, And Mental Retardation |
|
Dystonia, Babinski sign, Cerebellar atrophy, Knee clonus, Spastic gait, Lower limb spasticity, Im... |
OMIM:607565 |
Rolandic Epilepsy |
|
Febrile seizure (within the age range of 3 months to 6 years), EEG with centrotemporal focal spik... |
ORPHA:1945 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Large for gestational age |
ORPHA:356996 |
Dentatorubral-Pallidoluysian Atrophy |
|
Choreoathetosis, Chorea, Myoclonus, Ataxia, Abnormal pyramidal sign, Atrophy of the dentate nucleus |
OMIM:125370 |
Ataxia-Oculomotor Apraxia 3 |
|
Cerebellar atrophy, Frequent falls, Dysmetria, Distal sensory impairment, Oculomotor apraxia, Ataxia |
OMIM:615217 |
Coenzyme Q10 Deficiency, Primary, 7 |
|
Hypertrophic cardiomyopathy, Bradycardia |
OMIM:616276 |
Spastic Paraplegia 39, Autosomal Recessive |
|
Gait disturbance, Babinski sign, Cerebellar atrophy, Atrophy of the spinal cord, Ataxia, Progress... |
OMIM:612020 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Cerebellar atrophy, Dysmetria, Steppage gait, Tremor, Ataxia, Distal sensory impairment, Gait ataxia |
OMIM:618387 |
Spastic Paraplegia 79, Autosomal Recessive |
|
Babinski sign, Cerebellar atrophy, Head titubation, Dysmetria, Neurodegeneration, Fasciculations,... |
OMIM:615491 |
Spinocerebellar Ataxia, Autosomal Recessive 29 |
|
Cerebellar atrophy, Lower limb spasticity, Cerebellar vermis atrophy, Corpus callosum atrophy, In... |
OMIM:619389 |
Spinocerebellar Ataxia 12 |
|
Cerebellar atrophy, Axial dystonia, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis,... |
OMIM:604326 |
Seizures, Benign Familial Infantile, 2 |
|
Generalized-onset seizure, Focal-onset seizure |
OMIM:605751 |
Cardiomyopathy, Familial Hypertrophic, 16 |
|
Ventricular tachycardia, Asymmetric septal hypertrophy, Atrial fibrillation, Left bundle branch b... |
OMIM:613838 |
Autosomal Dominant Spastic Ataxia Type 1 |
|
Impaired proprioception, Babinski sign, Spastic gait, Spastic dysarthria, Lower limb spasticity, ... |
ORPHA:251282 |
Spinocerebellar Ataxia 28 |
|
Dystonia, Babinski sign, Cerebellar atrophy, Hypertonia, Spasticity, Parkinsonism, Limb ataxia, G... |
OMIM:610246 |
Seizures, Benign Familial Infantile, 3 |
|
Bilateral tonic-clonic seizure with focal onset, Normal interictal EEG, Focal impaired awareness ... |
OMIM:607745 |
Spastic Paraparesis And Deafness |
|
Tremor, Spastic paraparesis |
OMIM:312910 |
Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Babinski sign, Rigidity, Scissor gait, Abnormality of extrapyramidal motor function, Lower limb s... |
OMIM:260300 |
Spinocerebellar Ataxia 14 |
|
Impaired vibration sensation at ankles, Cerebellar atrophy, Dysmetria, Focal dystonia, Progressiv... |
OMIM:605361 |
Parkinson Disease 17 |
|
Rigidity, Bradykinesia, Tremor, Resting tremor, Parkinsonism |
OMIM:614203 |
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Tremor, Kinetic tremor |
OMIM:611808 |
Spinocerebellar Ataxia 17 |
|
Dystonia, Cerebellar atrophy, Rigidity, Dysmetria, Chorea, Neuronal loss in central nervous syste... |
OMIM:607136 |
Developmental And Epileptic Encephalopathy 12 |
|
Generalized-onset seizure, Hypsarrhythmia, Focal-onset seizure |
OMIM:613722 |
Dystonia, Dopa-Responsive |
|
Postural tremor, Babinski sign, Torticollis, Bradykinesia, Cogwheel rigidity, Parkinsonism with f... |
OMIM:128230 |
Spinocerebellar Ataxia 26 |
|
Cerebellar atrophy, Incoordination, Truncal ataxia, Limb ataxia, Gait ataxia |
OMIM:609306 |
Paralysis Agitans, Juvenile, Of Hunt |
|
Tremor, Parkinsonism, Bradykinesia, Rigidity |
OMIM:168100 |
Alpha-Methylacyl-Coa Racemase Deficiency |
|
Tremor, Ataxia, Spasticity |
OMIM:614307 |
X-Linked Progressive Cerebellar Ataxia |
|
Clumsiness, Babinski sign, Frequent falls, Dysmetria, Spastic dysarthria, Progressive gait ataxia... |
ORPHA:1175 |
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay |
|
Abnormal pons morphology, Babinski sign, Cerebellar atrophy, Abnormal motor evoked potentials, Dy... |
ORPHA:98 |
Spinocerebellar Ataxia, Autosomal Recessive 18 |
|
Babinski sign, Cerebellar atrophy, Dysmetria, Cerebellar vermis atrophy, Oculomotor apraxia, Dysd... |
OMIM:616204 |
Left Ventricular Noncompaction 8 |
|
Dilated cardiomyopathy, Mitral regurgitation, Congestive heart failure, Abnormal left ventricular... |
OMIM:615373 |
Spinocerebellar Ataxia 44 |
|
Cerebellar atrophy, Frequent falls, Dysmetria, Ataxia, Dysdiadochokinesis, Spasticity, Gait ataxia |
OMIM:617691 |
Chorea, Benign Familial |
|
Chorea |
OMIM:215450 |
Spinal Muscular Atrophy, Jokela Type |
|
Tremor, Distal sensory impairment, Fasciculations |
OMIM:615048 |
Hyperphenylalaninemia, Bh4-Deficient, D |
|
Tremor, Hypertonia |
OMIM:264070 |
Spinocerebellar Ataxia, Autosomal Recessive 8 |
|
Cerebellar atrophy, Dysmetria, Ataxia, Spasticity, Limb ataxia, Gait ataxia |
OMIM:610743 |
Spastic Paraplegia 6, Autosomal Dominant |
|
Babinski sign, Clonus, Spastic gait, Lower limb spasticity, Tremor, Impaired vibration sensation ... |
OMIM:600363 |
Cln5 Disease |
|
Clumsiness, Poor gross motor coordination, Cerebellar atrophy, Atrophy/Degeneration affecting the... |
ORPHA:228360 |
Spinocerebellar Ataxia Type 14 |
|
Rigidity, Myoclonus, Tremor, Cerebellar vermis atrophy, Progressive cerebellar ataxia, Limb ataxi... |
ORPHA:98763 |
Cardiomyopathy, Dilated, 1Y |
|
Dilated cardiomyopathy, Ventricular tachycardia, Congestive heart failure, Mitral regurgitation |
OMIM:611878 |
Developmental And Epileptic Encephalopathy 92 |
|
Dystonia, Myoclonus, Ataxia, Inability to walk, EEG abnormality, Spasticity, Difficulty walking, ... |
OMIM:617829 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Impaired distal proprioception, Steppage gait, Global brain atrophy, Spastic dysarthria, Impaired... |
ORPHA:94124 |
Cerebellar Atrophy With Seizures And Variable Developmental Delay |
|
Dysmetria, Chorea, Cerebellar vermis atrophy, Inability to walk, Ataxia, Gait ataxia |
OMIM:618501 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Cerebellar atrophy, Steppage gait, Distal sensory impairment, Ataxia, Cerebral atrophy |
OMIM:607250 |
Spastic Paraplegia 78, Autosomal Recessive |
|
Parkinsonism, Babinski sign, Cerebellar atrophy, Falls, Bradykinesia, Spastic tetraplegia, Distal... |
OMIM:617225 |
Mental Retardation, Autosomal Dominant 52 |
|
Hyperactivity |
OMIM:617796 |
Familial Focal Epilepsy With Variable Foci |
|
EEG with focal epileptiform discharges, Bilateral tonic-clonic seizure, Nocturnal seizures, Infan... |
ORPHA:98820 |
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome |
|
Neurodegeneration, Cerebellar atrophy, Gait ataxia |
ORPHA:438134 |
Bundle Branch Block, Familial Isolated Complete Right |
|
Right bundle branch block |
OMIM:113950 |
Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis |
|
Normal interictal EEG, Generalized-onset seizure, Focal-onset seizure |
OMIM:602066 |
Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Babinski sign, Frequent falls, Myoclonus, Fasciculations, Tremor, Ataxia, Spasticity, Gait ataxia |
OMIM:607317 |
Neurodegeneration With Brain Iron Accumulation 2A |
|
Cerebellar atrophy, Neurodegeneration, Neuronal loss in central nervous system, Gliosis, Decrease... |
OMIM:256600 |
Infantile Neuronal Ceroid Lipofuscinosis |
|
Clumsiness, Dystonia, Cerebellar atrophy, Myoclonic spasms, Increased neuronal autofluorescent li... |
ORPHA:79263 |
Cataracts, Spastic Paraparesis, And Speech Delay |
|
Generalized non-motor (absence) seizure, Focal motor seizure, Bilateral tonic-clonic seizure, Com... |
OMIM:619338 |
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Ventricular escape rhythm, Bradycardia, Prolonged PR interval, Sick sinus syndrome, Arrhythmia |
ORPHA:542306 |
Atrial Septal Defect, Sinus Venosus Type |
|
Left-to-right shunt, Atrial fibrillation, Systolic heart murmur, Cardiac conduction abnormality, ... |
ORPHA:99105 |
Succinic Semialdehyde Dehydrogenase Deficiency |
|
Bilateral tonic-clonic seizure, Seizure, Status epilepticus, EEG abnormality, Generalized myoclon... |
OMIM:271980 |
Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
Bilateral tonic-clonic seizure, Myoclonic seizure, EEG abnormality, Atonic seizure, Generalized n... |
OMIM:617810 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Myoclonic status epilepticus, Limb myoclonus, Typical absence seizure, Myoclonus, Seizure, Eyelid... |
ORPHA:2590 |
Chorea, Childhood-Onset, With Psychomotor Retardation |
|
Involuntary movements, Chorea |
OMIM:616939 |
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome |
|
Left ventricular noncompaction cardiomyopathy, Torsade de pointes, Aborted sudden cardiac death, ... |
OMIM:115000 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Dystonia, Neuronal loss in central nervous system, Myoclonus, Tremor, Hyperactivity, Ataxia, Tetr... |
OMIM:615924 |
Cardiomyopathy, Dilated, 1Nn |
|
Dilated cardiomyopathy, Mitral regurgitation, Ventricular arrhythmia |
OMIM:615916 |
Migraine, Familial Hemiplegic, 1 |
|
Tremor, Hemiparesis, Ataxia, Hemiplegia |
OMIM:141500 |
Glut1 Deficiency Syndrome 2 |
|
Dystonia, Choreoathetosis, Tremor, Ataxia, EEG abnormality, Cerebral atrophy |
OMIM:612126 |
Leukoencephalopathy with metaphyseal chondrodysplasia |
|
Spastic paraplegia, Babinski sign, Tremor |
OMIM:300660 |
Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, And Cerebral Dysfunction |
|
Ataxia, Slowed slurred speech, Astrocytosis |
OMIM:172500 |
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive |
|
Dystonia, Dysmetria, Chorea, Bradykinesia, Abnormal pyramidal sign, Ataxia, Parkinsonism, Abnorma... |
OMIM:618317 |
Adult Neuronal Ceroid Lipofuscinosis |
|
Clumsiness, Myoclonus, Abnormality of extrapyramidal motor function, Tremor, Ataxia, Spasticity, ... |
ORPHA:79262 |
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Gait disturbance, Dystonia, Cerebellar atrophy, Dysmetria, Tremor, Oculomotor apraxia, Dysdiadoch... |
OMIM:617145 |
Motor Neuron Disease With Dementia And Ophthalmoplegia |
|
Degeneration of anterior horn cells, Astrocytosis, Cerebral atrophy |
OMIM:600333 |
Kohlschutter-Tonz Syndrome |
|
Hypsarrhythmia, Ataxia, Spasticity, Cerebellar hypoplasia, Cerebral atrophy |
OMIM:226750 |
Null Syndrome |
|
Decreased nerve conduction velocity, Ataxia, Inability to walk, Difficulty walking, Progressive s... |
ORPHA:280234 |
Parkinson Disease 22, Autosomal Dominant |
|
Tremor, Resting tremor, Bradykinesia |
OMIM:616710 |
Congenital Cerebellar Ataxia Due To Rnu12 Mutation |
|
Cerebellar atrophy, Frequent falls, Intention tremor, Cerebellar vermis atrophy, Poor fine motor ... |
ORPHA:512260 |
Dystonia 27 |
|
Postural tremor, Action tremor |
OMIM:616411 |
Epilepsy, Familial Temporal Lobe, 6 |
|
Febrile seizure (within the age range of 3 months to 6 years), Focal impaired awareness seizure, ... |
OMIM:615697 |
Charcot-Marie-Tooth Disease, Axonal, Type 2S |
|
Steppage gait, Gait disturbance, Distal sensory impairment, Axonal degeneration |
OMIM:616155 |
Charcot-Marie-Tooth Disease, Axonal, Type 2P |
|
Decreased motor nerve conduction velocity, Steppage gait, Axonal degeneration, Fasciculations, Di... |
OMIM:614436 |
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation |
|
Clumsiness, Babinski sign, Poor coordination, Dysmetria, Spastic ataxia, Tremor, Ankle clonus, Sp... |
OMIM:270500 |
Spinocerebellar Ataxia Type 19/22 |
|
Impaired vibration sensation at ankles, Cerebellar atrophy, Poor coordination, Cogwheel rigidity,... |
ORPHA:98772 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Cerebellar atrophy, Frequent falls, Tremor, Ataxia, Distal sensory impairment, Spasticity, Gait a... |
OMIM:616719 |
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency |
|
Clumsiness, Dystonia, Babinski sign, Frequent falls, Dysmetria, Intention tremor, Cerebellar verm... |
ORPHA:453521 |
Lipoyltransferase 1 Deficiency |
|
Pulmonary arterial hypertension, Bradycardia |
OMIM:616299 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Dilated cardiomyopathy, Sudden cardiac death, Congestive heart failure, Ventricular arrhythmia |
OMIM:601493 |
Anemia, Sideroblastic, And Spinocerebellar Ataxia |
|
Babinski sign, Clonus, Dysmetria, Intention tremor, Dysdiadochokinesis, Nonprogressive cerebellar... |
OMIM:301310 |
Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Cerebellar atrophy, Dilated fourth ventricle, Dysmetria, Inferior vermis hypoplasia, Tremor, Atax... |
OMIM:614831 |
Spinocerebellar Ataxia Type 29 |
|
Cerebellar atrophy, Dysmetria, Intention tremor, Cerebellar vermis atrophy, Oculomotor apraxia, A... |
ORPHA:208513 |
Ataxia-Pancytopenia Syndrome |
|
Babinski sign, Cerebellar atrophy, Dysmetria, Decreased nerve conduction velocity, Distal sensory... |
OMIM:159550 |
Autosomal Dominant Spastic Paraplegia Type 19 |
|
Impaired proprioception, Babinski sign, Degeneration of the lateral corticospinal tracts, Clonus,... |
ORPHA:100999 |
Spinocerebellar Ataxia, Autosomal Recessive 14 |
|
Cerebellar atrophy, Dysmetria, Intention tremor, Dysdiadochokinesis, Spasticity, Gait ataxia |
OMIM:615386 |
Myoclonic-Astatic Epilepsy |
|
EEG with focal spike waves, Interictal epileptiform activity, EEG with generalized slow activity,... |
ORPHA:1942 |
Coenzyme Q10 Deficiency, Primary, 9 |
|
Cerebellar atrophy, Dysmetria, Myoclonus, Lower limb spasticity, Impaired tandem gait, Tremor, At... |
OMIM:619028 |
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development |
|
Bilateral tonic-clonic seizure, Continuous spike and waves during slow sleep, Focal impaired awar... |
OMIM:245570 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Bradycardia |
OMIM:618815 |
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Tremor, Ataxia |
OMIM:619099 |
Spinocerebellar Ataxia, Autosomal Recessive 11 |
|
Ataxia, Limb ataxia, Cerebellar atrophy, Truncal ataxia |
OMIM:614229 |
Muscular Dystrophy, Progressive Pectorodorsal |
|
Arrhythmia |
OMIM:310095 |
Juvenile Huntington Disease |
|
Dystonia, Cerebellar atrophy, Rigidity, Chorea, Myoclonus, Bradykinesia, Cerebellar vermis atroph... |
ORPHA:248111 |
Benign Familial Neonatal Epilepsy |
|
Increased theta frequency activity in EEG, Limb myoclonus, Focal clonic seizure, Focal tonic seiz... |
ORPHA:1949 |
Spastic Paraplegia 26, Autosomal Recessive |
|
Dystonia, Babinski sign, Frequent falls, Dysmetria, Spastic gait, Lower limb spasticity, Ataxia, ... |
OMIM:609195 |
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss |
|
Tremor |
OMIM:614369 |
Spinocerebellar Ataxia 5 |
|
Cerebellar atrophy, Dysmetria, Intention tremor, Impaired vibratory sensation, Dysdiadochokinesis... |
OMIM:600224 |
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures |
|
Dystonia, Cerebellar atrophy, Choreoathetosis, Dysmetria, Ataxia, Corpus callosum atrophy, Spasti... |
OMIM:618088 |
Attrv122I Amyloidosis |
|
Hypertrophic cardiomyopathy, Reduced ejection fraction, Angina pectoris, Restrictive cardiomyopat... |
ORPHA:85451 |
Leukodystrophy, Hypomyelinating, 9 |
|
Dysmetria, Abnormality of extrapyramidal motor function, Intention tremor, Ataxia, Spasticity |
OMIM:616140 |
Cardiomyopathy, Familial Hypertrophic 27 |
|
Tricuspid regurgitation, Prolonged QT interval, Mitral regurgitation |
OMIM:618052 |
Wild Type Attr Amyloidosis |
|
Hypertrophic cardiomyopathy, Orthostatic hypotension due to autonomic dysfunction, Bradycardia, M... |
ORPHA:330001 |
Sinus Node Disease And Myopia |
|
Sick sinus syndrome, Abnormal electrophysiology of sinoatrial node origin |
OMIM:182190 |
Autosomal Dominant Non-Syndromic Intellectual Disability |
|
Typical absence seizure, Bilateral tonic-clonic seizure, Focal emotional seizure with laughing, F... |
ORPHA:178469 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6 |
|
Sudden cardiac death, Right ventricular cardiomyopathy, Premature ventricular contraction |
OMIM:604401 |
Mental Retardation, Autosomal Recessive 37 |
|
Hyperactivity |
OMIM:615493 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Infantile spasms, Myoclonus, Focal impaired awareness seizure, Hypsarrhythmia, Multifocal epilept... |
ORPHA:411986 |
Cardiomyopathy, Dilated, 1R |
|
Dilated cardiomyopathy, Restrictive cardiomyopathy, Congestive heart failure, Ventricular arrhythmia |
OMIM:613424 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Palpitations, Syncope, Sinus bradycardia, Atrioventricular block |
OMIM:616812 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Bradycardia, Congestive heart failure |
OMIM:619048 |
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly |
|
Hyperactivity, Inability to walk |
OMIM:616657 |
Epilepsy, Familial Adult Myoclonic, 4 |
|
Tremor, Myoclonus |
OMIM:615127 |
Bilateral Frontoparietal Polymicrogyria |
|
Typical absence seizure, Seizure, Bilateral tonic-clonic seizure with generalized onset, Atonic s... |
ORPHA:101070 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Paralysis, Cerebellar atrophy, Neuronal loss in central nervous system, Gliosis, Myoclonus, Astro... |
OMIM:203700 |
Laryngeal Abductor Paralysis With Cerebellar Ataxia And Motor Neuropathy |
|
Paralysis, Cerebellar atrophy, Limb fasciculations, Dysmetria, Progressive cerebellar ataxia, Gai... |
OMIM:606183 |
Developmental And Epileptic Encephalopathy 47 |
|
Gait disturbance, Cerebellar atrophy, Hypsarrhythmia, Multifocal epileptiform discharges, Inabili... |
OMIM:617166 |
Mental Retardation, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
Spinocerebellar Ataxia 42 |
|
Babinski sign, Impaired vibration sensation at ankles, Cerebellar atrophy, Spastic gait, Spastic ... |
OMIM:616795 |
Spectrin-Associated Autosomal Recessive Cerebellar Ataxia |
|
Cerebellar atrophy, Dysmetria, Progressive gait ataxia, Intention tremor, Progressive cerebellar ... |
ORPHA:352403 |
Neurodegeneration With Brain Iron Accumulation 3 |
|
Dystonia, Babinski sign, Rigidity, Choreoathetosis, Writer's cramp, Neurodegeneration, Chorea, Br... |
OMIM:606159 |
Coenzyme Q10 Deficiency, Primary, 5 |
|
Bradycardia |
OMIM:614654 |
Cardiomyopathy, Familial Hypertrophic, 21 |
|
Arrhythmia, Cardiomyopathy |
OMIM:614676 |
Spinocerebellar Ataxia 34 |
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Cerebellar atrophy, Fasciculations, Intention tremor, Ataxia, Dysdiadochokinesis, Spasticity, Abn... |
OMIM:133190 |
Mental Retardation, Keratoconus, Febrile Seizures, And Sinoatrial Block |
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Sinoatrial block, Abnormal electrophysiology of sinoatrial node origin |
OMIM:609438 |
Optic Atrophy 3, Autosomal Dominant |
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Tremor, Abnormality of extrapyramidal motor function |
OMIM:165300 |
Spinocerebellar Ataxia, Autosomal Recessive 30 |
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Cerebellar atrophy, Dysmetria, Tremor, Ataxia, Cerebral atrophy, Unsteady gait, Titubation |
OMIM:619405 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15 |
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