| Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy |
|
Sudden cardiac death, Effort-induced polymorphic ventricular tachycardia, Seizure, Syncope, Atria... |
OMIM:604772 |
| Spastic Ataxia With Congenital Miosis |
|
Hemiplegia/hemiparesis, Spastic ataxia, Seizure, Ataxia |
ORPHA:1182 |
| Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3 |
|
Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Tremor, Ataxia |
OMIM:613227 |
| Optic Atrophy 2 |
|
Tremor, Dysdiadochokinesis, Babinski sign |
OMIM:311050 |
| Epilepsy, Familial Adult Myoclonic, 1 |
|
Generalized myoclonic seizure, Jerk-locked premyoclonus spikes, EEG with irregular generalized sp... |
OMIM:601068 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 18 |
|
Myoclonic seizure, Bradycardia |
OMIM:619521 |
| Long Qt Syndrome 15 |
|
Polymorphic ventricular tachycardia, Ventricular ectopy, Seizure, Cardiac arrest, Syncope, Ventri... |
OMIM:616249 |
| Cardiomyopathy, Dilated, 1E |
|
Supraventricular tachycardia, Right bundle branch block, Reduced left ventricular ejection fracti... |
OMIM:601154 |
| Epilepsy, Familial Adult Myoclonic, 4 |
|
Seizure, EEG with polyspike wave complexes, Myoclonus, Jerk-locked premyoclonus spikes, Bilateral... |
OMIM:615127 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 |
|
Polymorphic ventricular tachycardia, Seizure, Syncope, Ventricular tachycardia, Bradycardia |
OMIM:611938 |
| Posterior Column Ataxia |
|
Impaired proprioception, Ataxia, Impaired vibratory sensation |
OMIM:176250 |
| Angelman syndrome (Type 2) |
|
Truncal ataxia, Seizure |
DECIPHER:54 |
| Angelman syndrome (Type 1) |
|
Truncal ataxia, Seizure |
DECIPHER:4 |
| Spinocerebellar Ataxia, X-Linked 2 |
|
Abnormality of extrapyramidal motor function, Ataxia |
OMIM:302600 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Polymorphic ventricular tachycardia, Cardiac arrest, Syncope, Paroxysmal ventricular tachycardia,... |
OMIM:614021 |
| Long Qt Syndrome 13 |
|
Torsade de pointes, Pulmonary embolism, Permanent atrial fibrillation, Reduced left ventricular e... |
OMIM:613485 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Sudden cardiac death, Right ventricular cardiomyopathy, Presyncope, Congestive heart failure, Pre... |
OMIM:604400 |
| Episodic Ataxia, Type 1 |
|
Spastic gait, Episodic ataxia, Incoordination, Babinski sign, Slurred speech, Tremor |
OMIM:160120 |
| Ataxia-Oculomotor Apraxia Type 1 |
|
Gait disturbance, Ataxia |
ORPHA:1168 |
| Spinocerebellar Ataxia Type 4 |
|
Impaired tactile sensation, Gait disturbance, Ataxia, Impaired proprioception, Impaired vibratory... |
ORPHA:98765 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities, With Or Without Seizures |
|
Myoclonic seizure, Hypsarrhythmia, Multifocal epileptiform discharges, Tonic seizure, Bilateral t... |
OMIM:619964 |
| Episodic Ataxia Type 5 |
|
Truncal ataxia, Ataxia |
ORPHA:211067 |
| Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Spasticity, Abnormal pyramidal sign, Seizure, Abnormality of extrapyramidal motor function, Gait ... |
OMIM:614561 |
| Sinoatrial Node Dysfunction And Deafness |
|
Abnormal QRS complex, Increased heart rate variability, Syncope, Bradycardia |
OMIM:614896 |
| Epilepsy, Familial Adult Myoclonic, 3 |
|
Focal-onset seizure, Myoclonus, Jerk-locked premyoclonus spikes, Bilateral tonic-clonic seizure, ... |
OMIM:613608 |
| Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness |
|
Polymorphic ventricular tachycardia, Cardiac arrest, Syncope, Shock, Premature ventricular contra... |
OMIM:615441 |
| Megalencephalic Leukoencephalopathy With Subcortical Cysts 1 |
|
Spasticity, Seizure, Ataxia |
OMIM:604004 |
| Epilepsy, Progressive Myoclonic, 1B |
|
Myoclonus, Generalized myoclonic seizure, Ataxia, Babinski sign, Dysmetria, Tremor, Atonic seizure |
OMIM:612437 |
| Intellectual Developmental Disorder With Cardiac Arrhythmia |
|
Bradycardia, Sick sinus syndrome, Seizure, Arrhythmia |
OMIM:617173 |
| Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Right bundle branch block, Cardiac arrest, Paroxysmal supraventricular tachycardia, Congestive he... |
OMIM:616117 |
| Atonic-Astatic Syndrome Of Foerster |
|
Ataxia, Abasia, Inability to walk |
OMIM:209100 |
| Jervell And Lange-Nielsen Syndrome 2 |
|
Sudden cardiac death, Torsade de pointes, Syncope, Premature ventricular contraction, Prolonged Q... |
OMIM:612347 |
| Cerebellar Ataxia, Benign, With Thermoanalgesia |
|
Progressive cerebellar ataxia, Impaired temperature sensation |
OMIM:212890 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 4 |
|
Sudden cardiac death, Cardiac arrest, Syncope, Premature ventricular contraction, Ventricular tac... |
OMIM:614916 |
| Atrial Fibrillation, Familial, 18 |
|
Third degree atrioventricular block, Permanent atrial fibrillation, Palpitations, Bradycardia, Fi... |
OMIM:617280 |
| Megalencephaly With Dysmyelination |
|
Spasticity, Seizure, Ataxia |
OMIM:249240 |
| Episodic Ataxia With Slurred Speech |
|
Gait ataxia, Slurred speech, Tremor |
ORPHA:401953 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Sudden cardiac death, Right bundle branch block, Right ventricular cardiomyopathy, Ventricular ar... |
OMIM:610193 |
| Spinocerebellar Ataxia Type 15/16 |
|
Gait ataxia, Tremor by anatomical site, Upper limb postural tremor, Ataxia, Head tremor, Action t... |
ORPHA:98769 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 14 |
|
Presyncope, Premature ventricular contraction, Ventricular tachycardia, Palpitations, Left bundle... |
OMIM:618920 |
| Spinocerebellar Ataxia 20 |
|
Gait ataxia, Abnormal pyramidal sign, Postural tremor, Palatal tremor, Limb ataxia, Action tremor |
OMIM:608687 |
| Brugada Syndrome |
|
Supraventricular tachycardia, Right bundle branch block, Trifascicular block, Cardiac arrest, Ven... |
ORPHA:130 |
| Atrial Standstill 1 |
|
Atrial standstill, Premature atrial contractions, Atrial cardiomyopathy, Ventricular escape rhyth... |
OMIM:108770 |
| Isolated Cerebellar Agenesis |
|
Seizure, Ataxia, Hypertonia |
ORPHA:1398 |
| Epilepsy, Familial Adult Myoclonic, 5 |
|
Focal sensory seizure with visual features, Myoclonus, Interictal epileptiform activity, Bilatera... |
OMIM:615400 |
| Epilepsy, Familial Temporal Lobe, 5 |
|
Focal aware seizure, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Visually-i... |
OMIM:614417 |
| Progressive Familial Heart Block, Type Ii |
|
Sudden cardiac death, Complete heart block with narrow QRS complexes, Syncope, Atrioventricular b... |
OMIM:140400 |
| Ataxia-Deafness-Retardation Syndrome |
|
Ataxia |
OMIM:208850 |
| Spinocerebellar Ataxia 40 |
|
Gait ataxia, Ankle clonus, Dysdiadochokinesis, Ataxia, Intention tremor, Spastic paraparesis, Dys... |
OMIM:616053 |
| Epilepsy, Familial Temporal Lobe, 1 |
|
Bilateral tonic-clonic seizure with focal onset, Focal autonomic seizure with palpitations/tachyc... |
OMIM:600512 |
| Myasthenic Syndrome, Congenital, 18 |
|
Fatigable weakness, Difficulty walking, Ataxia |
OMIM:616330 |
| Spastic Paraplegia 72, Autosomal Recessive |
|
Impaired vibration sensation in the lower limbs, Hoffmann sign, Spasticity, Tip-toe gait, Spastic... |
OMIM:615625 |
| Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Tremor, Ataxia |
OMIM:213000 |
| Succinic Semialdehyde Dehydrogenase Deficiency |
|
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Status epilepticus, Ataxia |
ORPHA:22 |
| Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Chorea, Hemiballismus, Seizure, Tremor, Frequent falls, Hyperkinetic movements, Unsteady gait |
OMIM:616921 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 4 |
|
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... |
OMIM:602087 |
| Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp |
|
Focal motor seizure, Paroxysmal dystonia, Writer's cramp, Myoclonus, Hand tremor, Bilateral tonic... |
OMIM:608105 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 17 |
|
Spastic tetraparesis, Seizure, Ataxia |
OMIM:619061 |
| Myoclonus, Familial, 1 |
|
Myoclonus, Ataxia, Action tremor, Frequent falls, Action myoclonus |
OMIM:614937 |
| Long Qt Syndrome 10 |
|
Sudden cardiac death, T-wave alternans, Prolonged QT interval, Atrioventricular block, Atrial fib... |
OMIM:611819 |
| Myoclonic Epilepsy, Juvenile, Susceptibility To, 4 |
|
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, EEG with polyspike wave complexes |
OMIM:611364 |
| Ataxia With Myoclonic Epilepsy And Presenile Dementia |
|
Myoclonus, Generalized myoclonic seizure, Seizure, Ataxia |
OMIM:208700 |
| Dystonia 3, Torsion, X-Linked |
|
Chorea, Myoclonus, Parkinsonism with favorable response to dopaminergic medication, Torsion dysto... |
OMIM:314250 |
| Spinocerebellar Ataxia 43 |
|
Gait ataxia, Rigidity, Limb ataxia, Ataxia, Tremor, Distal sensory impairment |
OMIM:617018 |
| Epilepsy, Progressive Myoclonic 7 |
|
Myoclonic seizure, Myoclonus, Ataxia, Bilateral tonic-clonic seizure, Tremor |
OMIM:616187 |
| Cardiomyopathy, Dilated, 1G |
|
Reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyopathy, Pre... |
OMIM:604145 |
| Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome |
|
Sudden cardiac death, Torsade de pointes, Polymorphic and polytopic ventricular extrasystoles, Le... |
OMIM:115000 |
| Cardiac Conduction Defect |
|
Syncope, Arrhythmia |
OMIM:115080 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 |
|
Sudden cardiac death, Right ventricular cardiomyopathy, Congestive heart failure, Premature ventr... |
OMIM:607450 |
| Cardiomyopathy, Dilated, 1U |
|
Severely reduced left ventricular ejection fraction, Syncope, Congestive heart failure, Dilated c... |
OMIM:613694 |
| X-Linked Intellectual Disability-Ataxia-Apraxia Syndrome |
|
Apraxia, Seizure, Ataxia |
ORPHA:85338 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 |
|
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... |
OMIM:602086 |
| Dystonia 23 |
|
Torticollis, Head tremor, Myoclonus, Arrhythmia |
OMIM:614860 |
| Spinocerebellar Ataxia Type 31 |
|
Gait ataxia, Impaired vibratory sensation, Spasticity, Tremor |
ORPHA:217012 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 1 |
|
Sudden cardiac death, Ventricular arrhythmia, Right ventricular cardiomyopathy |
OMIM:107970 |
| Developmental And Epileptic Encephalopathy 15 |
|
Myoclonic seizure, Hypsarrhythmia, Focal clonic seizure, Tonic seizure, Bilateral tonic-clonic se... |
OMIM:615006 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 |
|
Sudden cardiac death, Right ventricular cardiomyopathy, Ventricular arrhythmia, Syncope, Palpitat... |
OMIM:610476 |
| Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Chorea, Torticollis, Ataxia, Bilateral tonic-clonic seizure, Tremor, Hyperkinetic movements, Dyst... |
OMIM:618425 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 6 |
|
Sudden cardiac death, Premature ventricular contraction, Right ventricular cardiomyopathy |
OMIM:604401 |
| Continuous Spikes And Waves During Sleep |
|
EEG with centrotemporal focal spike waves, Typical absence seizure, Seizure, Focal motor seizure,... |
ORPHA:725 |
| Spinocerebellar Ataxia 37 |
|
Unsteady gait, Tremor, Frequent falls, Ataxia |
OMIM:615945 |
| Cardiomyopathy, Familial Hypertrophic, 6 |
|
Wolff-Parkinson-White syndrome, Syncope, Congestive heart failure, Asymmetric septal hypertrophy,... |
OMIM:600858 |
| Episodic Ataxia, Type 8 |
|
Slurred speech, Episodic ataxia, Intention tremor, Ataxia |
OMIM:616055 |
| Developmental And Epileptic Encephalopathy 53 |
|
Myoclonic seizure, Seizure, Hypsarrhythmia, Tonic seizure, Bilateral tonic-clonic seizure, Convul... |
OMIM:617389 |
| Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures |
|
Gait ataxia, Myoclonic seizure, Seizure, Generalized myoclonic seizure, Ataxia, Bilateral tonic-c... |
OMIM:617831 |
| Ataxia With Fasciculations |
|
Ataxia, Fasciculations |
OMIM:108700 |
| Progressive Familial Heart Block, Type Ib |
|
Right bundle branch block, Syncope, Shortened PR interval, Prolonged QT interval, Left anterior f... |
OMIM:604559 |
| Familial Short Qt Syndrome |
|
Sudden cardiac death, Ventricular arrhythmia, Syncope, Ventricular fibrillation, Palpitations, At... |
ORPHA:51083 |
| X-Linked Spinocerebellar Ataxia Type 4 |
|
Progressive cerebellar ataxia, Abnormal pyramidal sign, Difficulty walking, Postural tremor |
ORPHA:85292 |
| Sick Sinus Syndrome 1 |
|
Ventricular escape rhythm, Prolonged QT interval, Atrioventricular block, Absent P wave, Sick sin... |
OMIM:608567 |
| Spinocerebellar Ataxia Type 23 |
|
Gait ataxia, Impaired distal vibration sensation, Limb ataxia, Babinski sign, Impaired propriocep... |
ORPHA:101108 |
| Maple Syrup Urine Disease |
|
Hemiplegia/hemiparesis, Seizure, Ataxia |
ORPHA:511 |
| Ventricular Fibrillation, Paroxysmal Familial, 2 |
|
Sudden cardiac death, Premature ventricular contraction, Ventricular fibrillation |
OMIM:612956 |
| Congenital Heart Defects, Multiple Types, 3 |
|
Right bundle branch block, Atrioventricular dissociation, Atrioventricular block, Tachycardia, At... |
OMIM:614954 |
| Spinocerebellar Ataxia Type 38 |
|
Gait ataxia, Somatic sensory dysfunction, Tremor, Difficulty walking |
ORPHA:423296 |
| Sick Sinus Syndrome 4 |
|
Sinoatrial block, Syncope, Abnormal PR interval, Abnormal QRS complex, Chronotropic incompetence,... |
OMIM:619464 |
| Developmental And Epileptic Encephalopathy 11 |
|
Bilateral tonic-clonic seizure with focal onset, Spastic tetraplegia, Status epilepticus, Bilater... |
OMIM:613721 |
| Myoclonic Epilepsy, Familial Infantile |
|
Gait ataxia, Febrile seizure (within the age range of 3 months to 6 years), Seizure, Focal-onset ... |
OMIM:605021 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Sudden cardiac death, Right ventricular cardiomyopathy, Cardiac arrest, Syncope, Epsilon wave, Pr... |
OMIM:609040 |
| Developmental And Epileptic Encephalopathy 94 |
|
Febrile seizure (within the age range of 3 months to 6 years), Multifocal epileptiform discharges... |
OMIM:615369 |
| Cardiomyopathy, Dilated, 1V |
|
Reduced left ventricular ejection fraction, Syncope, Congestive heart failure, Increased left ven... |
OMIM:613697 |
| Developmental And Epileptic Encephalopathy 104 |
|
Seizure, Hypsarrhythmia, Clonic seizure, Tonic seizure, Bilateral tonic-clonic seizure, Focal imp... |
OMIM:619970 |
| Intellectual Developmental Disorder, Autosomal Recessive 6 |
|
Postural tremor, Torticollis, Myoclonus, Atonic seizure, Kinetic tremor, Involuntary movements |
OMIM:611092 |
| Tremor Of Intention, Ataxia, And Lipofuscinosis |
|
Intention tremor, Ataxia |
OMIM:190200 |
| Cardiomyopathy, Dilated, 1A |
|
Sudden cardiac death, Third degree atrioventricular block, Ventricular arrhythmia, Dilated cardio... |
OMIM:115200 |
| Developmental And Epileptic Encephalopathy 101 |
|
Third degree atrioventricular block, Seizure, Myoclonus, Opisthotonus, Bradycardia |
OMIM:619814 |
| Myasthenic Syndrome, Congenital, 15 |
|
Fatigable weakness, Difficulty walking, Frequent falls |
OMIM:616227 |
| Brugada Syndrome 2 |
|
Sudden cardiac death, Right bundle branch block, Syncope, Prolonged PR interval, First degree atr... |
OMIM:611777 |
| X-Linked Intellectual Disability-Plagiocephaly Syndrome |
|
Bradycardia, Morning myoclonic jerks |
ORPHA:2898 |
| Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type) |
|
Myoclonic seizure, Seizure, Parkinsonism, Abnormality of extrapyramidal motor function, Myoclonus... |
OMIM:162350 |
| Atrial Standstill |
|
Right bundle branch block, Mobitz I atrioventricular block, Ischemic stroke, Reduced left ventric... |
ORPHA:1344 |
| Cerebellar Ataxia, Cayman Type |
|
Gait ataxia, Truncal ataxia, Intention tremor, Broad-based gait, Nonprogressive cerebellar ataxia |
ORPHA:94122 |
| Cerebellar Ataxia, Cayman Type |
|
Gait ataxia, Intention tremor, Truncal ataxia, Broad-based gait |
OMIM:601238 |
| Primary Orthostatic Tremor |
|
Abnormality of extrapyramidal motor function, Tremor |
ORPHA:238606 |
| Chromosome 15Q11-Q13 Duplication Syndrome |
|
Seizure, Echolalia, Impaired social interactions, Truncal ataxia, Delayed speech and language dev... |
OMIM:608636 |
| Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Myoclonus, Tremor, Frequent falls, Cardiomyopathy |
OMIM:619647 |
| Sudden Cardiac Failure, Infantile |
|
Sudden cardiac death, Seizure, Congestive heart failure, Hypertrophic cardiomyopathy, Myocarditis... |
OMIM:617222 |
| Spinocerebellar Ataxia, X-Linked 5 |
|
Action tremor, Ataxia |
OMIM:300703 |
| Progressive Myoclonic Epilepsy Type 1 |
|
Myoclonus, Limb ataxia, Morning myoclonic jerks, Ataxia, Intention tremor |
ORPHA:308 |
| Long Qt Syndrome 14 |
|
T-wave alternans, Cardiac arrest, Prolonged QT interval, 2:1 atrioventricular block, Prolonged QT... |
OMIM:616247 |
| Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Poor fine motor coordination, Bradycardia, Sick sinus syndrome, Seizure |
OMIM:617182 |
| Long Qt Syndrome 16 |
|
T-wave alternans, Second degree atrioventricular block, Bradycardia, Prolonged QTc interval |
OMIM:618782 |
| Developmental And Epileptic Encephalopathy 60 |
|
Myoclonic seizure, Seizure, Spastic tetraplegia, Inability to walk, Hippocampal malrotation, Toni... |
OMIM:617929 |
| Dystonia 31 |
|
Abnormal posturing, Parkinsonism, Writer's cramp, Leg dystonia, Craniofacial dystonia, Difficulty... |
OMIM:619565 |
| Cortical Malformations, Occipital |
|
Focal impaired awareness automatism seizure, Bilateral tonic-clonic seizure, EEG abnormality |
OMIM:614115 |
| Epilepsy, Progressive Myoclonic, 6 |
|
Myoclonus, Myoclonic status epilepticus, Ataxia, Loss of ambulation, Tremor, Bilateral tonic-clon... |
OMIM:614018 |
| Myoclonus-Cerebellar Ataxia-Deafness Syndrome |
|
Progressive gait ataxia, Progressive cerebellar ataxia, Intention tremor, Myoclonus |
ORPHA:2589 |
| Developmental And Epileptic Encephalopathy 12 |
|
Focal-onset seizure, Hypsarrhythmia, Tonic seizure, Bilateral tonic-clonic seizure, Epileptic spasm |
OMIM:613722 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Hypotension, Seizure, Cardiac arrest, Premature ventricular contraction, Ventricular tachycardia,... |
OMIM:212138 |
| Developmental And Epileptic Encephalopathy 38 |
|
Status epilepticus, Dystonia, Ataxia, Hypertonia |
OMIM:617020 |
| Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Spasticity, Tremor, Ataxia, Babinski sign |
OMIM:611105 |
| Paroxysmal Exertion-Induced Dyskinesia |
|
Chorea, Paresthesia, Seizure, Choreoathetosis, Ataxia, Torsion dystonia, Paroxysmal dyskinesia, L... |
ORPHA:98811 |
| Developmental And Epileptic Encephalopathy 67 |
|
EEG abnormality, Hypsarrhythmia, Generalized myoclonic seizure, Focal hemiclonic seizure, Tonic s... |
OMIM:618141 |
| Autosomal Spastic Paraplegia Type 30 |
|
Progressive spastic paraplegia, Somatic sensory dysfunction, Spastic gait, Ataxia, Babinski sign,... |
ORPHA:101010 |
| Spinocerebellar Ataxia Type 37 |
|
Somatic sensory dysfunction, Falls, Dysdiadochokinesis, Truncal ataxia, Myoclonus, Gait disturban... |
ORPHA:363710 |
| Atrioventricular Dissociation |
|
Congenital atrioventricular dissociation |
OMIM:209600 |
| Progressive Familial Heart Block, Type Ia |
|
Sudden cardiac death, Right bundle branch block, Left posterior fascicular block, Syncope, Left a... |
OMIM:113900 |
| Romano-Ward Syndrome |
|
Sudden cardiac death, Torsade de pointes, Abnormal T-wave, Seizure, Ventricular arrhythmia, Synco... |
ORPHA:101016 |
| Dentatorubral-Pallidoluysian Atrophy |
|
Chorea, Seizure, Parkinsonism, Myoclonus, Choreoathetosis, Ataxia, Dystonia |
OMIM:125370 |
| Centralopathic Epilepsy |
|
EEG with centrotemporal focal spike waves, Nocturnal seizures, Bilateral tonic-clonic seizure wit... |
OMIM:117100 |
| Myoclonic-Atonic Epilepsy |
|
Myoclonic seizure, Eyelid myoclonus, Generalized myoclonic-atonic seizure, Ataxia, Tremor, Atonic... |
OMIM:616421 |
| Convulsive Disorder, Familial, With Prenatal Or Early Onset |
|
Myoclonus, Seizure |
OMIM:217200 |
| Cardiomyopathy, Dilated, 1P |
|
Ventricular arrhythmia, Reduced systolic function, Congestive heart failure, Dilated cardiomyopathy |
OMIM:609909 |
| Epilepsy, Myoclonic Juvenile |
|
Status epilepticus, Morning myoclonic jerks, EEG with generalized polyspikes, Bilateral tonic-clo... |
OMIM:254770 |
| Myoclonus, Cerebellar Ataxia, And Deafness |
|
Myoclonus, Ataxia |
OMIM:159800 |
| Cerebellar Atrophy, Developmental Delay, And Seizures |
|
Bilateral tonic-clonic seizure with focal onset, Myoclonic seizure, EEG abnormality |
OMIM:617643 |
| Developmental And Epileptic Encephalopathy 27 |
|
Myoclonic seizure, Seizure, Hypsarrhythmia, Myoclonus, Bilateral tonic-clonic seizure, Infantile ... |
OMIM:616139 |
| Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Premature ventricular contraction, Syncope, Tachycardia |
OMIM:192445 |
| Autosomal Dominant Epilepsy With Auditory Features |
|
Bilateral tonic-clonic seizure with focal onset, Generalized-onset seizure, Focal-onset seizure, ... |
ORPHA:101046 |
| Spinocerebellar Ataxia 38 |
|
Gait ataxia, Myoclonus, Limb ataxia, Ataxia, Tremor |
OMIM:615957 |
| Segawa Syndrome, Autosomal Recessive |
|
Gait ataxia, Parkinsonism, Rigidity, Abnormality of extrapyramidal motor function, Myoclonus, Lim... |
OMIM:605407 |
| Alternating Hemiplegia Of Childhood 2 |
|
Seizure, Choreoathetosis, Episodic quadriplegia, Status epilepticus, Hemiplegia, Ataxia, Tetraple... |
OMIM:614820 |
| Left Ventricular Noncompaction 1 |
|
Sudden cardiac death, Ventricular arrhythmia, Noncompaction cardiomyopathy, Congestive heart fail... |
OMIM:604169 |
| Developmental And Epileptic Encephalopathy 26 |
|
Bilateral tonic-clonic seizure with focal onset, Hypsarrhythmia, Bilateral tonic-clonic seizure, ... |
OMIM:616056 |
| Benign Familial Infantile Epilepsy |
|
Bilateral tonic-clonic seizure with focal onset, Generalized clonic seizure, Generalized tonic se... |
ORPHA:306 |
| Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Gait ataxia, Chorea, Absence seizure with eyelid myoclonia, Truncal ataxia, Myoclonus, Generalize... |
OMIM:618587 |
| Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome |
|
Gait ataxia, Somatic sensory dysfunction, Abnormal pyramidal sign, Fasciculations, Truncal ataxia... |
ORPHA:95434 |
| Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development |
|
EEG with centrotemporal focal spike waves, Bilateral tonic-clonic seizure with focal onset, Seizu... |
OMIM:245570 |
| Infantile Spasms Syndrome |
|
Infantile spasms, Myoclonus |
ORPHA:3451 |
| Epilepsy, Familial Adult Myoclonic, 7 |
|
Seizure, Myoclonic tremor |
OMIM:618075 |
| Lichtenstein-Knorr Syndrome |
|
Gait ataxia, Dysdiadochokinesis, Limb ataxia, Ataxia, Dysmetria, Action tremor |
OMIM:616291 |
| Parkinson Disease 24, Autosomal Dominant, Susceptibility To |
|
Rigidity, Parkinsonism with favorable response to dopaminergic medication, Resting tremor |
OMIM:619491 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 3 |
|
Bilateral tonic-clonic seizure, Seizure |
OMIM:608762 |
| Seizures, Benign Familial Infantile, 3 |
|
Normal interictal EEG, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal ... |
OMIM:607745 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1I |
|
Impaired distal vibration sensation, Spasticity, Seizure, Spastic gait, Ataxia, Babinski sign, Fr... |
OMIM:619742 |
| Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Supraventricular tachycardia, Cardiac arrest, Dilated cardiomyopathy, Hypertrophic cardiomyopathy... |
OMIM:612158 |
| Epilepsy, Familial Temporal Lobe, 8 |
|
Bilateral tonic-clonic seizure with focal onset, Deja vu aura, Focal aware sensory seizure with a... |
OMIM:616461 |
| Developmental And Epileptic Encephalopathy 32 |
|
Febrile seizure (within the age range of 3 months to 6 years), Myoclonic seizure, Seizure, Myoclo... |
OMIM:616366 |
| Emery-Dreifuss Muscular Dystrophy 1, X-Linked |
|
Sudden cardiac death, Palpitations, Atrioventricular block, Atrial arrhythmia, Absent P wave, Fir... |
OMIM:310300 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 7 |
|
Bilateral tonic-clonic seizure, Myoclonus |
OMIM:604827 |
| Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Chorea, Parkinsonism, Rigidity, Myoclonus, Upper motor neuron dysfunction, Ataxia, Tremor, Dystonia |
ORPHA:401901 |
| Developmental And Epileptic Encephalopathy 54 |
|
Seizure, EEG abnormality, Myoclonus, Status epilepticus without prominent motor symptoms, Tonic s... |
OMIM:617391 |
| Rolandic Epilepsy-Speech Dyspraxia Syndrome |
|
Bilateral tonic-clonic seizure with focal onset, Seizure, EEG with generalized epileptiform disch... |
ORPHA:163721 |
| Aminoacylase 1 Deficiency |
|
Bilateral tonic-clonic seizure, Bradycardia, Seizure |
OMIM:609924 |
| Epilepsy, Pyridoxine-Dependent |
|
EEG with burst suppression, Generalized myoclonic seizure, Status epilepticus, Clonic seizure, Bi... |
OMIM:266100 |
| Migraine, Familial Hemiplegic, 1 |
|
Seizure, Hemiparesis, Hemiplegia, Ataxia, Tremor |
OMIM:141500 |
| Long Qt Syndrome 9 |
|
Cardiac arrest, Ventricular arrhythmia, Syncope, Prolonged QT interval, Abnormal U wave, Sinus br... |
OMIM:611818 |
| Epilepsy, Progressive Myoclonic, 9 |
|
Gait ataxia, Myoclonus, Generalized myoclonic seizure, Status epilepticus, Bilateral tonic-clonic... |
OMIM:616540 |
| Atrial Septal Defect, Sinus Venosus Type |
|
Pulmonary arterial hypertension, Systolic heart murmur, Supraventricular tachycardia, Right bundl... |
ORPHA:99105 |
| Autosomal Recessive Spastic Paraplegia Type 71 |
|
Progressive spastic paraplegia, Spastic gait, Hand tremor, Babinski sign, Lower limb spasticity |
ORPHA:401840 |
| Familial Focal Epilepsy With Variable Foci |
|
Focal-onset seizure, Hypsarrhythmia, Interictal EEG abnormality, Multifocal epileptiform discharg... |
ORPHA:98820 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 15 |
|
Seizure, Eyelid myoclonus, Myoclonus, Bilateral tonic-clonic seizure, Generalized non-motor (abse... |
OMIM:618357 |
| Andersen-Tawil Syndrome |
|
Polymorphic ventricular tachycardia, Torsade de pointes, Abnormal T-wave, Periodic hyperkalemic p... |
ORPHA:37553 |
| Heart-Hand Syndrome, Slovenian Type |
|
Supraventricular arrhythmia, Dilated cardiomyopathy, Abnormal electrophysiology of sinoatrial nod... |
ORPHA:168796 |
| Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion |
|
Takotsubo cardiomyopathy, Status epilepticus without prominent motor symptoms, Bilateral tonic-cl... |
ORPHA:363549 |
| Spinocerebellar Ataxia 35 |
|
Pseudobulbar paralysis, Torticollis, Incoordination, Ataxia, Babinski sign, Impaired propriocepti... |
OMIM:613908 |
| Myasthenic Syndrome, Congenital, 3A, Slow-Channel |
|
Loss of ambulation, Prolonged miniature endplate currents, Decreased miniature endplate potentials |
OMIM:616321 |
| Epilepsy, Idiopathic Generalized |
|
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, EEG with spike-wave complexes (>3.... |
OMIM:600669 |
| Adult Neuronal Ceroid Lipofuscinosis |
|
Spasticity, Abnormal pyramidal sign, Seizure, Clumsiness, Abnormality of extrapyramidal motor fun... |
ORPHA:79262 |
| Paroxysmal Kinesigenic Dyskinesia |
|
Chorea, Focal sensory seizure, Seizure, Writer's cramp, Involuntary movements, Athetosis, Dystonia |
ORPHA:98809 |
| Developmental And Epileptic Encephalopathy 9 |
|
Focal-onset seizure, Generalized myoclonic seizure, Status epilepticus, Focal hemiclonic seizure,... |
OMIM:300088 |
| Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Tud Deficiency |
|
Seizure, Ataxia |
ORPHA:404493 |
| Neuronopathy, Distal Hereditary Motor, Type Viia |
|
Vocal cord paresis, Tremor, Difficulty walking, Vocal cord paralysis |
OMIM:158580 |
| Spinocerebellar Ataxia 41 |
|
Gait ataxia, Unsteady gait, Ataxia |
OMIM:616410 |
| Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type) |
|
Focal-onset seizure, Abnormality of extrapyramidal motor function, Myoclonus, Status epilepticus ... |
OMIM:204300 |
| Intellectual Developmental Disorder, Autosomal Dominant 69 |
|
Bilateral tonic-clonic seizure, Intention tremor |
OMIM:617863 |
| Polymyoclonus, Infantile |
|
Myoclonus, Ataxia |
OMIM:263550 |
| Autosomal Dominant Spastic Ataxia Type 1 |
|
Impaired vibration sensation in the lower limbs, Spastic ataxia, Seizure, Spastic gait, Spastic d... |
ORPHA:251282 |
| Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Gait ataxia, Inability to walk, Rigidity, Delayed speech and language development, Generalized my... |
OMIM:618090 |
| Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Gait ataxia, Spasticity, Abnormal pyramidal sign, Seizure, Torticollis, Myoclonus, Ataxia, Babins... |
OMIM:607317 |
| Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome |
|
Premature ventricular contraction, Heart block |
ORPHA:1964 |
| Developmental And Epileptic Encephalopathy 42 |
|
Myoclonic seizure, EEG abnormality, Focal tonic seizure, Tonic seizure, Bilateral tonic-clonic se... |
OMIM:617106 |
| Spastic Ataxia 2, Autosomal Recessive |
|
Gait ataxia, Spasticity, Spastic ataxia, Babinski sign, Dysmetria, Tremor, Frequent falls, Head t... |
OMIM:611302 |
| Dravet Syndrome |
|
Myoclonic seizure, Generalized clonic seizure, Abnormal pyramidal sign, Focal aware seizure, Gene... |
OMIM:607208 |
| Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Chorea, Hemiballismus, Tremor, Frequent falls, Unsteady gait |
ORPHA:494526 |
| Chronic Atrial And Intestinal Dysrhythmia |
|
Pulmonic stenosis, Ventricular escape rhythm, Mitral regurgitation, Atrial flutter, Bradycardia, ... |
OMIM:616201 |
| Perioral Myoclonia With Absences |
|
Chin myoclonus, Focal seizure with eyelid myoclonia, Generalized myoclonic seizure, Bilateral ton... |
ORPHA:139426 |
| Myopathy, Myofibrillar, 1 |
|
Restrictive cardiomyopathy, Third degree atrioventricular block, Dilated cardiomyopathy, Hypertro... |
OMIM:601419 |
| Benign Adult Familial Myoclonic Epilepsy |
|
Focal-onset seizure, Generalized-onset seizure, Hand tremor, Myoclonus |
ORPHA:86814 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 9 |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Typical... |
OMIM:607682 |
| Cardiomyopathy, Dilated, 1B |
|
Impaired myocardial contractility, Ventricular arrhythmia, Congestive heart failure, Dilated card... |
OMIM:600884 |
| Spinocerebellar Ataxia, Autosomal Recessive 25 |
|
Truncal ataxia, Dysmetria, Ataxia, Babinski sign |
OMIM:617584 |
| Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures |
|
Bilateral tonic-clonic seizure, Status epilepticus, EEG abnormality |
OMIM:617171 |
| Supravalvular Aortic Stenosis |
|
Supravalvular aortic stenosis, Arrhythmia |
ORPHA:3193 |
| Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant |
|
Bilateral tonic-clonic seizure, Focal impaired awareness seizure, EEG abnormality |
OMIM:610003 |
| Developmental And Epileptic Encephalopathy 13 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure wit... |
OMIM:614558 |
| Spinocerebellar Ataxia Type 20 |
|
Gait ataxia, Abnormal pyramidal sign, Tremor by anatomical site, Upper limb postural tremor, Atax... |
ORPHA:101110 |
| Intellectual Developmental Disorder, Autosomal Dominant 5 |
|
Seizure, EEG abnormality, Torticollis, Bilateral tonic-clonic seizure, Myoclonic absence seizure |
OMIM:612621 |
| X-Linked Non Progressive Cerebellar Ataxia |
|
Truncal ataxia, Clumsiness, Spastic dysarthria, Babinski sign, Intention tremor, Action tremor, F... |
ORPHA:314978 |
| Developmental And Epileptic Encephalopathy 74 |
|
Myoclonic seizure, Typical absence seizure, Choreoathetosis, Tonic seizure, Bilateral tonic-cloni... |
OMIM:618396 |
| Developmental And Epileptic Encephalopathy 6B |
|
Chorea, Myoclonic seizure, Inability to walk, Focal-onset seizure, Myoclonus, Choreoathetosis, St... |
OMIM:619317 |
| Long Qt Syndrome 2 |
|
Sudden cardiac death, Torsade de pointes, Cardiac arrest, Syncope, Prolonged QT interval, Notched... |
OMIM:613688 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type |
|
Spasticity, Seizure, Falls, Parkinsonism, Rigidity, Apraxia, Delayed speech and language developm... |
OMIM:300423 |
| Incessant Infant Ventricular Tachycardia |
|
Supraventricular tachycardia, Histiocytoid cardiomyopathy, Cardiac arrest, Wolff-Parkinson-White ... |
ORPHA:45453 |
| Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy |
|
Sudden cardiac death, Arrhythmia |
OMIM:212500 |
| His Bundle Tachycardia |
|
Cardiomyopathy, Junctional ectopic tachycardia, Arrhythmia |
ORPHA:3283 |
| Cardiomyopathy, Familial Hypertrophic, 26 |
|
Sudden cardiac death, Permanent atrial fibrillation, Congestive heart failure, Hypertrophic cardi... |
OMIM:617047 |
| Myoclonic Epilepsy Of Unverricht And Lundborg |
|
EEG with polyspike wave complexes, Myoclonus, Interictal epileptiform activity, Bilateral tonic-c... |
OMIM:254800 |
| Familial Dyskinesia And Facial Myokymia |
|
Chorea, Resting tremor, Limb hypertonia, Myoclonus, Dilated cardiomyopathy, Congestive heart failure |
ORPHA:324588 |
| Primary Dystonia, Dyt27 Type |
|
Writer's cramp, Limb dystonia, Upper limb postural tremor, Focal dystonia, Axial dystonia, Action... |
ORPHA:464440 |
| Autosomal Spastic Paraplegia Type 72 |
|
Rigidity, Postural tremor, Impaired vibration sensation at ankles, Spastic gait |
ORPHA:401849 |
| Dystonia, Dopa-Responsive |
|
Gait ataxia, Impaired distal vibration sensation, Spasticity, Dysdiadochokinesis, Postural tremor... |
OMIM:128230 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Right ventricular cardiomyopathy, T-wave inversion, Ventricular arrhythmia, Syncope, Ventricular ... |
OMIM:611528 |
| Familial Progressive Cardiac Conduction Defect |
|
Bundle branch block, Syncope, Congestive heart failure, Heart block, Arrhythmia |
ORPHA:871 |
| Tremor, Hereditary Essential, 6 |
|
Vocal tremor, Head tremor, Kinetic tremor, Postural tremor |
OMIM:618866 |
| Tremor, Hereditary Essential, 5 |
|
Kinetic tremor, Tongue tremor, Postural tremor, Intention tremor |
OMIM:616736 |
| Mitochondrial Complex I Deficiency, Nuclear Type 12 |
|
Gait imbalance, Seizure, Delayed speech and language development, Myoclonus, Choreoathetosis, Gen... |
OMIM:301020 |
| Developmental And Epileptic Encephalopathy 30 |
|
Bilateral tonic-clonic seizure, Hypsarrhythmia, Generalized myoclonic seizure, Seizure |
OMIM:616341 |
| Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Sudden cardiac death, Ventricular arrhythmia, Congestive heart failure, Dilated cardiomyopathy, I... |
OMIM:601493 |
| Neurodegeneration With Brain Iron Accumulation 8 |
|
Ataxia, Dysmetria, Loss of ambulation, Tremor, Unsteady gait |
OMIM:617917 |
| Jervell And Lange-Nielsen Syndrome 1 |
|
Sudden cardiac death, Torsade de pointes, Syncope, Prolonged QT interval, Prolonged QTc interval |
OMIM:220400 |
| Developmental And Epileptic Encephalopathy 37 |
|
Chorea, Spasticity, Rigidity, Myoclonus, Choreoathetosis, Focal hemiclonic seizure, Bilateral ton... |
OMIM:616981 |
| Lennox-Gastaut Syndrome |
|
Generalized tonic seizure, EEG abnormality, Focal-onset seizure, Myoclonus, Generalized myoclonic... |
ORPHA:2382 |
| Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Seizure, Inability to walk, Focal-onset seizure, Oculogyric crisis, Generalized myoclonic seizure... |
ORPHA:330050 |
| Dystonia 27 |
|
Postural tremor, Writer's cramp, Limb dystonia, Torticollis, Action tremor, Oromandibular dystoni... |
OMIM:616411 |
| Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Gait ataxia, Seizure, Focal-onset seizure, Abnormality of extrapyramidal motor function, Myoclonu... |
OMIM:615362 |
| Urocanase Deficiency |
|
Gait ataxia, Truncal ataxia, Ataxia, Dysmetria, Action tremor, Broad-based gait |
OMIM:276880 |
| Epilepsy, Progressive Myoclonic, 11 |
|
Seizure, Rigidity, Myoclonus, Ataxia, Intention tremor |
OMIM:618876 |
| Spinocerebellar Ataxia, Autosomal Recessive 22 |
|
Abnormal pyramidal sign, Truncal ataxia, Ataxia, Dysmetria, Lower limb spasticity, Unsteady gait,... |
OMIM:616948 |
| Episodic Ataxia, Type 9 |
|
Seizure, Status epilepticus, Clonic seizure, Tonic seizure, Bilateral tonic-clonic seizure, Dystonia |
OMIM:618924 |
| Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia |
|
Myoclonus, Tremor, Cardiomyopathy |
OMIM:619651 |
| Spinocerebellar Ataxia 23 |
|
Impaired vibration sensation in the lower limbs, Gait ataxia, Limb ataxia, Babinski sign, Dysmetr... |
OMIM:610245 |
| Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy |
|
Myoclonic seizure, Seizure, Focal-onset seizure, Interictal epileptiform activity, Bilateral toni... |
OMIM:619157 |
| Congenital Myopathy 5 With Cardiomyopathy |
|
Sudden cardiac death, Severely reduced left ventricular ejection fraction, Congestive heart failu... |
OMIM:611705 |
| Long Qt Syndrome 5 |
|
Sudden cardiac death, Torsade de pointes, Syncope, Ventricular fibrillation, Prolonged QTc interv... |
OMIM:613695 |
| Spastic Paraplegia 6, Autosomal Dominant |
|
Impaired vibration sensation in the lower limbs, Seizure, Spastic gait, Babinski sign, Spastic pa... |
OMIM:600363 |
| Spinocerebellar Ataxia Type 40 |
|
Gait ataxia, Dysdiadochokinesis, Intention tremor, Spastic paraparesis, Dysmetria, Unsteady gait,... |
ORPHA:423275 |
| Epilepsy, Nocturnal Frontal Lobe, 2 |
|
Bilateral tonic-clonic seizure, Status epilepticus |
OMIM:603204 |
| Glycogen Storage Disease 0, Muscle |
|
Bilateral tonic-clonic seizure, Cardiomyopathy |
OMIM:611556 |
| Seizures, Benign Familial Neonatal, 2 |
|
Bilateral tonic-clonic seizure, Focal clonic seizure |
OMIM:121201 |
| Jervell And Lange-Nielsen Syndrome |
|
Torsade de pointes, Seizure, Syncope, Arrhythmia, Prolonged QTc interval, Ventricular fibrillation |
ORPHA:90647 |
| Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity |
|
Abnormal pyramidal sign, Paresthesia, Choreoathetosis, Episodic ataxia, Spastic paraplegia, Bilat... |
ORPHA:53583 |
| Wolff-Parkinson-White Syndrome |
|
Sudden cardiac death, Wolff-Parkinson-White syndrome, Syncope, Ventricular preexcitation with mul... |
OMIM:194200 |
| Epilepsy, Progressive Myoclonic, 8 |
|
Falls, Truncal ataxia, Delayed speech and language development, Myoclonus, Choreoathetosis, Limb ... |
OMIM:616230 |
| Spinocerebellar Ataxia Type 14 |
|
Gait ataxia, Somatic sensory dysfunction, Rigidity, Myoclonus, Limb ataxia, Tremor, Progressive c... |
ORPHA:98763 |
| Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss |
|
Tremor, Distal sensory impairment |
OMIM:614369 |
| Long Qt Syndrome 6 |
|
Sudden cardiac death, Torsade de pointes, Cardiac arrest, Syncope, Prolonged QT interval, Prolong... |
OMIM:613693 |
| Epilepsy, Juvenile Absence, Susceptibility To, 1 |
|
Generalized myoclonic seizure, EEG with spike-wave complexes (>3.5 Hz), Bilateral tonic-clonic se... |
OMIM:607631 |
| Infantile Convulsions And Choreoathetosis |
|
Chorea, Seizure, Focal-onset seizure, Choreoathetosis, Complex febrile seizure, Paroxysmal dyskin... |
ORPHA:31709 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 |
|
Ventricular tachycardia, First degree atrioventricular block, Left bundle branch block |
OMIM:615616 |
| Lissencephaly 10 |
|
Myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic... |
OMIM:618873 |
| Seizures, Benign Familial Infantile, 2 |
|
Bilateral tonic-clonic seizure, Focal impaired awareness seizure |
OMIM:605751 |
| Developmental And Epileptic Encephalopathy 59 |
|
Hypsarrhythmia, Multifocal epileptiform discharges, Focal clonic seizure, Tonic seizure, Bilatera... |
OMIM:617904 |
| Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Spasticity, Ankle clonus, Truncal ataxia, Limb ataxia, Babinski sign, Tremor, Unsteady gait |
OMIM:615768 |
| Episodic Kinesigenic Dyskinesia 2 |
|
Chorea, Paroxysmal dyskinesia, Dystonia, Involuntary movements |
OMIM:611031 |
| Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Tremor, Gait disturbance, Kinetic tremor |
OMIM:611808 |
| Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Limb hypertonia, Multifocal seizures, Focal-onset seizure, Myoclonic spasms, Rigidity, Generalize... |
OMIM:614498 |
| Unilateral Hemispheric Polymicrogyria |
|
Focal-onset seizure, Generalized myoclonic seizure, Focal atonic seizure, Bilateral tonic-clonic ... |
ORPHA:101071 |
| Short Qt Syndrome 2 |
|
Sudden cardiac death, Syncope, Ventricular fibrillation, Shortened QT interval, Bradycardia, Atri... |
OMIM:609621 |
| Epilepsy, Childhood Absence, Susceptibility To, 1 |
|
Febrile seizure (within the age range of 3 months to 6 years), EEG with spike-wave complexes (>3.... |
OMIM:600131 |
| Febrile Seizures, Familial, 8 |
|
Febrile seizure (within the age range of 3 months to 6 years), EEG with spike-wave complexes (>3.... |
OMIM:607681 |
| Spinocerebellar Ataxia 18 |
|
Dysdiadochokinesis, Progressive gait ataxia, Babinski sign, Dysmetria, Tremor |
OMIM:607458 |
| Spinocerebellar Ataxia Type 12 |
|
Poor fine motor coordination, Abnormal pyramidal sign, Tremor by anatomical site, Postural tremor... |
ORPHA:98762 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Spasticity, Abnormal pyramidal sign, Seizure, Myoclonus, Ataxia, Tetraparesis, Tremor, Dystonia |
OMIM:615924 |
| Epilepsy, Familial Temporal Lobe, 3 |
|
Bilateral tonic-clonic seizure with focal onset, Deja vu aura, Focal impaired awareness seizure |
OMIM:611630 |
| Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis |
|
Tremor, Spastic paraplegia |
OMIM:309560 |
| Naxos Disease |
|
Sudden cardiac death, Right bundle branch block, Right ventricular cardiomyopathy, T-wave inversi... |
OMIM:601214 |
| Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia |
|
Seizure, Postural tremor, Progressive gait ataxia, Oculomotor apraxia, Clumsiness, Limb ataxia, B... |
ORPHA:284324 |
| Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements |
|
Myoclonic seizure, Conductive hearing impairment, Seizure, Inability to walk, Myoclonus, Choreoat... |
OMIM:618497 |
| Sandhoff Disease, Adult Form |
|
Gait ataxia, Spasticity, Focal dystonia, Tremor, Dystonia, Fasciculations |
ORPHA:309169 |
| Developmental And Epileptic Encephalopathy 43 |
|
Myoclonic seizure, Hypsarrhythmia, Bilateral tonic-clonic seizure, Atonic seizure, Infantile spas... |
OMIM:617113 |
| Pontocerebellar Hypoplasia, Type 15 |
|
Myoclonic seizure, Spastic tetraplegia, Focal-onset seizure, Hydrocephalus, Bilateral tonic-cloni... |
OMIM:619302 |
| Alternating Hemiplegia Of Childhood 1 |
|
Bilateral tonic-clonic seizure, Choreoathetosis, Dystonia |
OMIM:104290 |
| Diaminopentanuria |
|
Spasticity, Seizure, Ataxia |
OMIM:222350 |
| Juvenile Absence Epilepsy |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized-onset seizure, EEG wit... |
ORPHA:1941 |
| Developmental And Epileptic Encephalopathy 98 |
|
Bilateral tonic-clonic seizure with focal onset, EEG with burst suppression, Focal-onset seizure,... |
OMIM:619605 |
| Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Rigidity, Generalized myoclonic seizure, Ataxia, Bilateral tonic-clonic seizure, Tremor, Myocloni... |
OMIM:617836 |
| Developmental And Epileptic Encephalopathy 33 |
|
Myoclonic seizure, Typical absence seizure, Seizure, Hypsarrhythmia, Bilateral tonic-clonic seizu... |
OMIM:616409 |
| Spinocerebellar Ataxia, Autosomal Recessive 10 |
|
Gait ataxia, Truncal ataxia, Limb ataxia, Dysmetria, Intention tremor, Fasciculations |
OMIM:613728 |
| Seizures, Benign Familial Infantile, 1 |
|
Bilateral tonic-clonic seizure with focal onset, Generalized-onset seizure, Focal-onset seizure, ... |
OMIM:601764 |
| Coenzyme Q10 Deficiency, Primary, 7 |
|
Hypertrophic cardiomyopathy, Bradycardia, Seizure |
OMIM:616276 |
| Basal Ganglia Calcification, Idiopathic, 1 |
|
Chorea, Abnormal pyramidal sign, Seizure, Dysdiadochokinesis, Parkinsonism, Rigidity, Gait distur... |
OMIM:213600 |
| Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Poor fine motor coordination, Seizure, Ventricular escape rhythm, Arrhythmia, Prolonged PR interv... |
ORPHA:542306 |
| Generalized Epilepsy With Febrile Seizures Plus, Type 2 |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Focal-o... |
OMIM:604403 |
| Long Qt Syndrome 1 |
|
Sudden cardiac death, Torsade de pointes, Syncope, Prolonged QT interval, Prolonged QTc interval,... |
OMIM:192500 |
| Developmental And Epileptic Encephalopathy 97 |
|
Epileptic spasm, Tremor, Seizure, Inability to walk |
OMIM:619561 |
| Spinal Muscular Atrophy, Jokela Type |
|
Tremor, Distal sensory impairment, Difficulty walking, Fasciculations |
OMIM:615048 |
| Intellectual Developmental Disorder With Seizures And Language Delay |
|
Myoclonic seizure, Increased theta frequency activity in EEG, EEG with polyspike wave complexes, ... |
OMIM:619000 |
| Corticobasal Syndrome |
|
Somatic sensory dysfunction, Limb myoclonus, Speech apraxia, Akinesia, Parkinsonism, Limb dystoni... |
ORPHA:454887 |
| Epilepsy, Familial Adult Myoclonic, 2 |
|
Blepharospasm, Myoclonus, Jerk-locked premyoclonus spikes, EEG with irregular generalized spike a... |
OMIM:607876 |
| Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay |
|
Delayed speech and language development, Bilateral tonic-clonic seizure, Inability to walk, Lower... |
OMIM:619639 |
| Spinocerebellar Ataxia, Autosomal Recessive 12 |
|
Gait ataxia, Limb ataxia, Ataxia, Babinski sign, Bilateral tonic-clonic seizure, Lower limb spast... |
OMIM:614322 |
| Developmental And Epileptic Encephalopathy 56 |
|
Myoclonic seizure, Seizure, Focal motor seizure, Poor coordination, Status epilepticus, Ataxia, A... |
OMIM:617665 |
| Desminopathy |
|
Sudden cardiac death, Concentric hypertrophic cardiomyopathy, Supraventricular arrhythmia, Conges... |
ORPHA:98909 |
| Tremor, Hereditary Essential, 1 |
|
Hand tremor, Action tremor, Postural tremor |
OMIM:190300 |
| Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant |
|
Sudden cardiac death, Reduced left ventricular ejection fraction, Syncope, Dilated cardiomyopathy... |
OMIM:181350 |
| Myoclonic Epilepsy Associated With Ragged-Red Fibers |
|
Spasticity, Seizure, Generalized myoclonic seizure, Myoclonus, Ataxia |
OMIM:545000 |
| Atrial Septal Defect 6 |
|
Bradycardia, Atrial fibrillation |
OMIM:613087 |
| Intellectual Developmental Disorder, Autosomal Recessive 34, With Variant Lissencephaly |
|
Bilateral tonic-clonic seizure, Seizure |
OMIM:614499 |
| Paroxysmal Extreme Pain Disorder |
|
Bradycardia, Tachycardia |
OMIM:167400 |
| Dyskinesia With Orofacial Involvement, Autosomal Dominant |
|
Chorea, Resting tremor, Limb hypertonia, Myoclonus, Choreoathetosis, Dilated cardiomyopathy, Cong... |
OMIM:606703 |
| Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Rubcn Deficiency |
|
Gait ataxia, Limb ataxia, Seizure |
ORPHA:404499 |
| Brugada Syndrome 1 |
|
Sudden cardiac death, Right bundle branch block, Cardiac arrest, Syncope, Supraventricular tachyc... |
OMIM:601144 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Gait ataxia, Hand tremor, Absent speech, Bilateral tonic-clonic seizure, Broad-based gait |
OMIM:617862 |
| Developmental And Epileptic Encephalopathy 23 |
|
Myoclonus, Supravalvular aortic stenosis, Tonic seizure, Bilateral tonic-clonic seizure, Atonic s... |
OMIM:615859 |
| Attrv30M Amyloidosis |
|
Cardiomyopathy, Atrioventricular block, Arrhythmia |
ORPHA:85447 |
| Long Qt Syndrome 8 |
|
Sudden cardiac death, Syncope, Ventricular fibrillation, Aborted sudden cardiac death, Prolonged ... |
OMIM:618447 |
| Bilateral Generalized Polymicrogyria |
|
Focal emotional seizure with laughing, Generalized-onset seizure, Generalized tonic seizure, Typi... |
ORPHA:208447 |
| Generalized Epilepsy With Febrile Seizures-Plus |
|
Poor fine motor coordination, Febrile seizure (within the age range of 3 months to 6 years), Gene... |
ORPHA:36387 |
| Coenzyme Q10 Deficiency, Primary, 9 |
|
Myoclonus, Ataxia, Impaired tandem gait, Dysmetria, Tremor, Lower limb spasticity, Bilateral toni... |
OMIM:619028 |
| Ceroid Lipofuscinosis, Neuronal, 8 |
|
Myoclonus, Seizure, Ataxia |
OMIM:600143 |
| Nystagmus, Myoclonic |
|
Myoclonus |
OMIM:310800 |
| Atrial Fibrillation, Familial, 7 |
|
Permanent atrial fibrillation, Premature atrial contractions, Palpitations, Prolonged PR interval... |
OMIM:612240 |
| Autosomal Dominant Spastic Paraplegia Type 6 |
|
Postural tremor, Gait disturbance, Babinski sign, Spastic paraplegia, Bilateral tonic-clonic seiz... |
ORPHA:100988 |
| Pontocerebellar Hypoplasia, Type 14 |
|
Myoclonic seizure, Spastic tetraplegia, Focal-onset seizure, Absent speech, Bilateral tonic-cloni... |
OMIM:619301 |
| Jeavons Syndrome |
|
Febrile seizure (within the age range of 3 months to 6 years), Limb myoclonus, Generalized tonic ... |
ORPHA:139431 |
| Kearns-Sayre Syndrome |
|
Third degree atrioventricular block, Hemiplegia/hemiparesis, Ataxia |
ORPHA:480 |
| Seizures, Benign Familial Infantile, 5 |
|
Bilateral tonic-clonic seizure |
OMIM:617080 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 12 |
|
Bilateral tonic-clonic seizure |
OMIM:614847 |
| Seizures, Benign Familial Neonatal, 3 |
|
Bilateral tonic-clonic seizure |
OMIM:608217 |
| Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Limb myoclonus, Typical absence seizure, Seizure, Eyelid myoclonus, Clumsiness, Myoclonus, Genera... |
ORPHA:2590 |
| Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Hypertrophic cardiomyopathy, Bradycardia, Dilated cardiomyopathy, Seizure |
OMIM:618815 |
| Idiopathic Neonatal Atrial Flutter |
|
Supraventricular tachycardia, Reduced left ventricular ejection fraction, Abnormal EKG, Paroxysma... |
ORPHA:45452 |
| Cardiac Arrhythmia, Ankyrin-B-Related |
|
Sudden cardiac death, Syncope, Prolonged QT interval, Atrial fibrillation, Sinus bradycardia |
OMIM:600919 |
| Combined Saposin Deficiency |
|
Generalized clonic seizure, Myoclonus, Babinski sign, Hyperkinetic movements, Fasciculations |
OMIM:611721 |
| Developmental And Epileptic Encephalopathy 24 |
|
Febrile seizure (within the age range of 3 months to 6 years), Myoclonic seizure, Focal-onset sei... |
OMIM:615871 |
| Primary Dystonia, Dyt13 Type |
|
Postural tremor, Limb dystonia, Torticollis, Focal dystonia, Torsion dystonia, Action tremor, Cra... |
ORPHA:98807 |
| Myoclonus-Dystonia Syndrome |
|
Limb myoclonus, Spinal myoclonus, Torticollis, Myoclonus |
ORPHA:36899 |
| Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia |
|
Spasticity, Progressive gait ataxia, Clumsiness, Babinski sign, Intention tremor, Dysmetria, Diff... |
ORPHA:284332 |
| Spinal Muscular Atrophy, Late-Onset, Finkel Type |
|
Loss of ambulation, Tremor, Fasciculations |
OMIM:182980 |
| Salt And Pepper Developmental Regression Syndrome |
|
Multifocal epileptiform discharges, Choreoathetosis, Status epilepticus, Myoclonus, Bilateral ton... |
OMIM:609056 |
| Isolated Focal Cortical Dysplasia |
|
Bilateral tonic-clonic seizure with focal onset, Generalized-onset seizure, Seizure, Focal-onset ... |
ORPHA:65683 |
| Episodic Ataxia, Type 5 |
|
Febrile seizure (within the age range of 3 months to 6 years), Typical absence seizure, Truncal a... |
OMIM:613855 |
| Xeroderma Pigmentosum, Complementation Group G |
|
Infantile spasms, Spasticity, Tremor, Ataxia |
OMIM:278780 |
| Generalized Epilepsy With Febrile Seizures Plus, Type 9 |
|
Febrile seizure (within the age range of 3 months to 6 years), Tonic seizure, Bilateral tonic-clo... |
OMIM:616172 |
| Encephalopathy Due To Prosaposin Deficiency |
|
Bilateral tonic-clonic seizure, Myoclonus, Dystonia |
ORPHA:139406 |
| Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
Gait ataxia, Myoclonic seizure, Spasticity, Inability to walk, Apraxia, Delayed speech and langua... |
OMIM:617810 |
| Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Generalized-onset seizure, Truncal ataxia, Congestive heart failure, Aortic regurgitation, Premat... |
OMIM:620066 |
| Spinocerebellar Ataxia, Autosomal Recessive 15 |
|
Gait ataxia, Unsteady gait, Seizure, Ataxia |
OMIM:615705 |
| Spinocerebellar Ataxia, X-Linked 1 |
|
Abnormality of extrapyramidal motor function, Ataxia, Action tremor, Unsteady gait, Intention tremor |
OMIM:302500 |
| Ceroid Lipofuscinosis, Neuronal, 3 |
|
Seizure, Concentric hypertrophic cardiomyopathy, Parkinsonism, Abnormality of extrapyramidal moto... |
OMIM:204200 |
| Developmental And Epileptic Encephalopathy 52 |
|
Febrile seizure (within the age range of 3 months to 6 years), Spasticity, Abnormal pyramidal sig... |
OMIM:617350 |
| Leber Hereditary Optic Neuropathy |
|
Postural tremor, Ataxia, Retinal telangiectasia, Arrhythmia, Ventricular preexcitation |
ORPHA:104 |
| Landau-Kleffner Syndrome |
|
Generalized clonic seizure, EEG with generalized epileptiform discharges, Seizure, Focal motor se... |
ORPHA:98818 |
| Hereditary Continuous Muscle Fiber Activity |
|
Ataxia, Slurred speech, Seizure, Spastic gait |
ORPHA:972 |
| Myoclonic Epilepsy Of Infancy |
|
Poor hand-eye coordination, Febrile seizure (within the age range of 3 months to 6 years), Myoclo... |
ORPHA:86909 |
| Infantile Osteopetrosis With Neuroaxonal Dysplasia |
|
Conductive hearing impairment, Seizure, Hypoplastic hippocampus, Partial agenesis of the corpus c... |
ORPHA:85179 |
| Hereditary Geniospasm |
|
Chin myoclonus, Intention tremor |
ORPHA:53372 |
| Spinocerebellar Ataxia Type 35 |
|
Gait ataxia, Pseudobulbar paralysis, Torticollis, Limb ataxia, Babinski sign, Dysmetria, Difficul... |
ORPHA:276193 |
| Spinocerebellar Ataxia 12 |
|
Dysdiadochokinesis, Parkinsonism, Dysmetria, Head tremor, Axial dystonia, Action tremor, Progress... |
OMIM:604326 |
| Atypical Juvenile Parkinsonism |
|
Gait ataxia, Abnormal pyramidal sign, Shuffling gait, Inability to walk, Akinesia, Resting tremor... |
ORPHA:391411 |
| Yoon-Bellen Neurodevelopmental Syndrome |
|
Spasticity, Inability to walk, Generalized myoclonic-atonic seizure, Status epilepticus, Ataxia, ... |
OMIM:619701 |
| Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Parkinsonism, Rigidity, Abnormality of extrapyramidal motor function, Parkinsonism with favorable... |
OMIM:260300 |
| Sick Sinus Syndrome 2 |
|
Sudden cardiac death, Torsade de pointes, Cardiac arrest, Syncope, Aortic regurgitation, Atrial f... |
OMIM:163800 |
| Developmental And Epileptic Encephalopathy 63 |
|
Myoclonic seizure, Generalized-onset seizure, Conductive hearing impairment, Generalized tonic se... |
OMIM:617976 |
| Polymicrogyria, Bilateral Temporooccipital |
|
Bilateral tonic-clonic seizure with focal onset, Status epilepticus, Focal impaired awareness sei... |
OMIM:612691 |
| Juvenile Myoclonic Epilepsy |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized-onset seizure, Status ... |
ORPHA:307 |
| Myoclonus, Familial, 2 |
|
Limb myoclonus |
OMIM:618364 |
| Epilepsy, Familial Adult Myoclonic, 6 |
|
Myoclonic tremor |
OMIM:618074 |
| Hemifacial Spasm, Familial |
|
Hemifacial spasm |
OMIM:141405 |
| Guanidinoacetate Methyltransferase Deficiency |
|
Chorea, Seizure, Abnormality of extrapyramidal motor function, Generalized myoclonic seizure, Ata... |
ORPHA:382 |
| Febrile Seizures, Familial, 5 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... |
OMIM:609255 |
| Febrile Seizures, Familial, 6 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... |
OMIM:609253 |
| Febrile Seizures, Familial, 4 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... |
OMIM:604352 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 17 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... |
OMIM:602477 |
| Febrile Seizures, Familial, 1 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... |
OMIM:121210 |
| Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Parkinsonism, Rigidity, Gait disturbance, Tremor, Dystonia, Bradykinesia |
OMIM:600116 |
| Cerebral Creatine Deficiency Syndrome 2 |
|
Febrile seizure (within the age range of 3 months to 6 years), Seizure, Rigidity, Delayed speech ... |
OMIM:612736 |
| Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures |
|
Chorea, Falls, Seizure, Focal-onset seizure, Poor coordination, Ataxia, Focal motor status epilep... |
OMIM:619150 |
| Spinocerebellar Ataxia Type 26 |
|
Somatic sensory dysfunction, Seizure, Truncal ataxia, Progressive gait ataxia, Paralysis, Limb at... |
ORPHA:101112 |
| Cln3 Disease |
|
Myoclonic seizure, Seizure, T-wave inversion, Focal-onset seizure, Ataxia, Bilateral tonic-clonic... |
ORPHA:228346 |
| Brain Small Vessel Disease 2 |
|
Spastic tetraplegia, Focal-onset seizure, Intracranial hemorrhage, Hemiplegia, Bilateral tonic-cl... |
OMIM:614483 |
| Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Hemiparesis, Wolff-Parkinson-White syndrome, Hypertension, Congestive heart failure, Abnormal lef... |
OMIM:540000 |
| Parkinson Disease 19A, Juvenile-Onset |
|
Spasticity, Abnormal pyramidal sign, Shuffling gait, Limb hypertonia, Parkinsonism, Rigidity, Sei... |
OMIM:615528 |
| Early Myoclonic Encephalopathy |
|
Focal seizure with eyelid myoclonia, Focal motor seizure, Myoclonus, Focal tonic seizure, General... |
ORPHA:1935 |
| Cardiomyopathy, Dilated, 1R |
|
Restrictive cardiomyopathy, Ventricular arrhythmia, Congestive heart failure, Dilated cardiomyopa... |
OMIM:613424 |
| Urocanic Aciduria |
|
Gait ataxia, Truncal ataxia, Ataxia, Action tremor, Broad-based gait |
ORPHA:210128 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 14 |
|
Febrile seizure (within the age range of 3 months to 6 years), Seizure, Generalized myoclonic sei... |
OMIM:616685 |
| Congenital Myasthenic Syndromes With Glycosylation Defect |
|
Abnormal peripheral nervous system synaptic transmission, Fatigable weakness, Favorable response ... |
ORPHA:353327 |
| Tako-Tsubo Cardiomyopathy |
|
Hypotension, Ventricular arrhythmia, Cardiogenic shock, Angina pectoris, Palpitations, Prolonged ... |
ORPHA:66529 |
| Alpers-Huttenlocher Syndrome |
|
Spasticity, Progressive spasticity, Focal-onset seizure, Myoclonus, Choreoathetosis, Paraparesis,... |
ORPHA:726 |
| Spinocerebellar Ataxia Type 28 |
|
Gait ataxia, Spasticity, Parkinsonism, Rigidity, Limb dystonia, Limb ataxia, Babinski sign, Head ... |
ORPHA:101109 |
| Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions |
|
Bilateral tonic-clonic seizure with focal onset, Myoclonic seizure, Truncal ataxia, Generalized m... |
OMIM:611726 |
| Benign Familial Neonatal Epilepsy |
|
Limb myoclonus, Generalized tonic seizure, Focal-onset seizure, Focal clonic seizure, Status epil... |
ORPHA:1949 |
| Cardiomyopathy, Dilated, 1Nn |
|
Reduced left ventricular ejection fraction, Ventricular arrhythmia, Congestive heart failure, Inc... |
OMIM:615916 |
| Long Qt Syndrome 12 |
|
Torsade de pointes, Syncope, Prolonged QTc interval, Ventricular fibrillation |
OMIM:612955 |
| Geniospasm 1 |
|
Chin myoclonus |
OMIM:190100 |
| Neurodevelopmental Disorder With Microcephaly, Ataxia, And Seizures |
|
Bilateral tonic-clonic seizure, Ataxia |
OMIM:617709 |
| Ceroid Lipofuscinosis, Neuronal, 5 |
|
Seizure, Dysdiadochokinesis, Clumsiness, Myoclonus, Ataxia, Dysmetria, Loss of ambulation, Limb t... |
OMIM:256731 |
| Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism |
|
Seizure, Postural tremor, Resting tremor, Parkinsonism, Clumsiness, Rigidity, Focal motor seizure... |
OMIM:619911 |
| Epilepsy, Progressive Myoclonic, 12 |
|
Myoclonus, Ataxia, Bilateral tonic-clonic seizure, Dysmetria, Difficulty walking |
OMIM:619191 |
| Parasomnia, Sleep Bruxism Type |
|
Myoclonus |
OMIM:606840 |
| Oxoglutarate Dehydrogenase Deficiency |
|
Gait ataxia, Falls, Rigidity, Delayed speech and language development, Dysmetria, Bilateral tonic... |
OMIM:203740 |
| Developmental And Epileptic Encephalopathy 34 |
|
Bilateral tonic-clonic seizure with focal onset, Abnormal pyramidal sign, Seizure, Focal-onset se... |
OMIM:616645 |
| Brugada Syndrome 3 |
|
Sudden cardiac death, Ventricular arrhythmia, Syncope, J wave, Shortened QT interval, Atrial fibr... |
OMIM:611875 |
| Spinocerebellar Ataxia 48 |
|
Gait ataxia, Chorea, Parkinsonism, Ataxia, Babinski sign, Dysmetria, Tremor, Bilateral tonic-clon... |
OMIM:618093 |
| Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures |
|
Seizure, EEG abnormality, Status epilepticus, Bilateral tonic-clonic seizure, Focal impaired awar... |
OMIM:613970 |
| Developmental And Epileptic Encephalopathy 109 |
|
Myoclonic seizure, Gait ataxia, Spasticity, Typical absence seizure, Myoclonus, Focal hemiclonic ... |
OMIM:620145 |
| Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Spasticity, Seizure, Pseudobulbar paralysis, Delayed speech and language development, Bilateral t... |
ORPHA:208441 |
| Cardiomyopathy, Dilated, 2G |
|
Right bundle branch block, Cerebral hemorrhage, Severely reduced left ventricular ejection fracti... |
OMIM:619897 |
| Hyperphenylalaninemia, Bh4-Deficient, C |
|
Seizure, Myoclonus, Choreoathetosis, Tremor, Hypertonia, Dystonia |
OMIM:261630 |
| Developmental And Epileptic Encephalopathy 92 |
|
Spasticity, Seizure, Inability to walk, Myoclonus, Ataxia, Difficulty walking, Dystonia |
OMIM:617829 |
| Developmental And Epileptic Encephalopathy 91 |
|
Myoclonic seizure, Seizure, Focal motor seizure, Hypsarrhythmia, Multifocal epileptiform discharg... |
OMIM:617711 |
| Generalized Epilepsy With Febrile Seizures Plus, Type 7 |
|
Febrile seizure (within the age range of 3 months to 6 years), Focal-onset seizure, Bilateral ton... |
OMIM:613863 |
| Developmental And Epileptic Encephalopathy 103 |
|
Myoclonic seizure, Epileptic spasm, EEG with polyspike wave complexes, EEG with burst suppression... |
OMIM:619913 |
| Progressive Myoclonic Epilepsy With Dystonia |
|
Abnormal pyramidal sign, Hemiparesis, Abnormality of extrapyramidal motor function, Myoclonus, Ge... |
ORPHA:352596 |
| Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Gait ataxia, Chorea, Spasticity, Febrile seizure (within the age range of 3 months to 6 years), I... |
OMIM:618917 |
| Glut1 Deficiency Syndrome 1 |
|
