Neuropathy, Hereditary Sensory, Atypical |
|
Ataxia, Babinski sign, Sensory ataxia |
OMIM:256860 |
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 |
Spastic Ataxia With Congenital Miosis |
|
Seizure, Ataxia, Spastic ataxia, Hemiplegia/hemiparesis |
ORPHA:1182 |
Epilepsy, Familial Adult Myoclonic, 1 |
|
Jerk-locked premyoclonus spikes, Bilateral tonic-clonic seizure, Giant somatosensory evoked poten... |
OMIM:601068 |
Optic Atrophy 2 |
|
Tremor, Babinski sign, Dysdiadochokinesis |
OMIM:311050 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 18 |
|
Myoclonic seizure, Bradycardia |
OMIM:619521 |
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3 |
|
Tremor, Ataxia, Slurred speech |
OMIM:613227 |
Cardiomyopathy, Dilated, 1E |
|
Dilated cardiomyopathy, Syncope, Premature ventricular contraction, Atrial standstill, Atrial fib... |
OMIM:601154 |
Epilepsy, Familial Adult Myoclonic, 4 |
|
Jerk-locked premyoclonus spikes, Bilateral tonic-clonic seizure, Myoclonus, Enhancement of the C-... |
OMIM:615127 |
Posterior Column Ataxia |
|
Impaired proprioception, Ataxia, Impaired vibratory sensation |
OMIM:176250 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 |
|
Ventricular tachycardia, Syncope, Seizure, Bradycardia |
OMIM:611938 |
Spinocerebellar Ataxia, X-Linked 2 |
|
Ataxia, Abnormality of extrapyramidal motor function |
OMIM:302600 |
Angelman syndrome (Type 2) |
|
Seizure, Truncal ataxia |
DECIPHER:54 |
Angelman syndrome (Type 1) |
|
Seizure, Truncal ataxia |
DECIPHER:4 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Paroxysmal ventricular tachycardia, Syncope, Premature ventricular contraction, Prolonged QT inte... |
OMIM:614021 |
Episodic Ataxia, Type 1 |
|
Babinski sign, Spastic gait, Tremor, Slurred speech, Incoordination, Episodic ataxia |
OMIM:160120 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Premature ventricular contraction, Ventricular tachycardia, Palpitations, Presyncope, Congestive ... |
OMIM:604400 |
Paroxysmal Tonic Upgaze, Benign Childhood, With Ataxia |
|
Clumsiness, Parkinsonism with favorable response to dopaminergic medication, Episodic ataxia |
OMIM:168885 |
Spinocerebellar Ataxia Type 4 |
|
Impaired proprioception, Gait disturbance, Ataxia, Impaired vibratory sensation, Impaired tactile... |
ORPHA:98765 |
Ataxia-Oculomotor Apraxia Type 1 |
|
Ataxia, Gait disturbance |
ORPHA:1168 |
Episodic Ataxia Type 5 |
|
Ataxia, Truncal ataxia |
ORPHA:211067 |
Tapetoretinal Degeneration With Ataxia |
|
Ataxia |
OMIM:272600 |
Intellectual Developmental Disorder With Cardiac Arrhythmia |
|
Seizure, Arrhythmia, Sick sinus syndrome, Bradycardia |
OMIM:617173 |
Epilepsy, Familial Adult Myoclonic, 3 |
|
Jerk-locked premyoclonus spikes, Bilateral tonic-clonic seizure, Giant somatosensory evoked poten... |
OMIM:613608 |
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Dilated cardiomyopathy, Premature ventricular contraction, Sinus bradycardia, Atrial fibrillation... |
OMIM:616117 |
Developmental And Epileptic Encephalopathy 32 |
|
Seizure, Ataxia, Myoclonus, Tremor |
OMIM:616366 |
Epilepsy, Progressive Myoclonic, 1B |
|
Babinski sign, Dysmetria, Tremor, Atonic seizure, Generalized myoclonic seizure |
OMIM:612437 |
Megalencephalic Leukoencephalopathy With Subcortical Cysts 1 |
|
Seizure, Ataxia, Spasticity |
OMIM:604004 |
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness |
|
Premature ventricular contraction, Syncope, Shock, Prolonged QT interval, Polymorphic ventricular... |
OMIM:615441 |
Atonic-Astatic Syndrome Of Foerster |
|
Ataxia, Abasia, Inability to walk |
OMIM:209100 |
Cerebellar Ataxia, Benign, With Thermoanalgesia |
|
Progressive cerebellar ataxia, Impaired temperature sensation |
OMIM:212890 |
Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Dystonia, Gait disturbance, Abnormality of extrapyramidal motor function, Seizure, Ataxia, Tremor... |
OMIM:614561 |
Megalencephaly With Dysmyelination |
|
Seizure, Ataxia, Spasticity |
OMIM:249240 |
Episodic Ataxia With Slurred Speech |
|
Tremor, Slurred speech, Gait ataxia |
ORPHA:401953 |
Atrial Standstill 1 |
|
Atrial standstill, Ventricular escape rhythm, Atrial cardiomyopathy, First degree atrioventricula... |
OMIM:108770 |
Developmental And Epileptic Encephalopathy 56 |
|
Poor coordination, Seizure, Ataxia, Status epilepticus, Broad-based gait, Attention deficit hyper... |
OMIM:617665 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14 |
|
Premature ventricular contraction, Ventricular tachycardia, Palpitations, Left bundle branch bloc... |
OMIM:618920 |
Progressive Familial Heart Block, Type Ia |
|
Syncope, Complete heart block with broad QRS complexes, Left anterior fascicular block, Right bun... |
OMIM:113900 |
Long Qt Syndrome 13 |
|
Syncope, Hypertension, Prolonged QT interval, Atrial fibrillation, Atrioventricular block, Tachyc... |
OMIM:613485 |
Brugada Syndrome |
|
Paroxysmal ventricular tachycardia, Syncope, Ventricular arrhythmia, Supraventricular tachycardia... |
ORPHA:130 |
Isolated Cerebellar Agenesis |
|
Seizure, Ataxia, Hypertonia |
ORPHA:1398 |
Spinocerebellar Ataxia Type 15/16 |
|
Tremor by anatomical site, Ataxia, Action tremor, Head tremor, Upper limb postural tremor, Gait a... |
ORPHA:98769 |
Epilepsy, Progressive Myoclonic 7 |
|
Seizure, Ataxia, Myoclonus, Tremor |
OMIM:616187 |
Progressive Familial Heart Block, Type Ii |
|
Syncope, Sinus bradycardia, Atrioventricular block, Complete heart block with narrow QRS complexe... |
OMIM:140400 |
Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Frequent falls, Chorea, Tremor, Seizure, Hyperkinetic movements, Unsteady gait, Hemiballismus |
OMIM:616921 |
Ataxia-Deafness-Retardation Syndrome |
|
Ataxia |
OMIM:208850 |
Spinocerebellar Ataxia 20 |
|
Postural tremor, Action tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal myoclonus |
OMIM:608687 |
Epilepsy, Familial Temporal Lobe, 5 |
|
Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Visually-induced seizure, Focal... |
OMIM:614417 |
Charcot-Marie-Tooth Disease, X-Linked Dominant, 6 |
|
Steppage gait, Hand tremor, Somatic sensory dysfunction |
OMIM:300905 |
Neuhauser-Eichner-Opitz Syndrome |
|
Ataxia, Hypertonia, Spasticity, Rigidity |
ORPHA:2672 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Premature ventricular contraction, Ventricular tachycardia, Palpitations, Sudden cardiac death, R... |
OMIM:610193 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 |
|
Premature ventricular contraction, Ventricular tachycardia, Congestive heart failure, Sudden card... |
OMIM:607450 |
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Tremor, Ataxia |
OMIM:213000 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 17 |
|
Seizure, Ataxia, Spastic tetraparesis |
OMIM:619061 |
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Arrhythmia, Sick sinus syndrome, Bradycardia, Poor fine motor coordination |
OMIM:617182 |
Epilepsy, Familial Temporal Lobe, 1 |
|
Focal sensory seizure with visual features, Focal sensory seizure with olfactory features, Bilate... |
OMIM:600512 |
Intellectual Developmental Disorder, Autosomal Recessive 6 |
|
Involuntary movements, Dystonia, Myoclonus, Seizure, Tremor |
OMIM:611092 |
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Dystonia, Bilateral tonic-clonic seizure, Torticollis, Chorea, Tremor, Ataxia, Hyperkinetic movem... |
OMIM:618425 |
Long Qt Syndrome 10 |
|
T-wave alternans, Prolonged QT interval, Atrial fibrillation, Atrioventricular block, Sudden card... |
OMIM:611819 |
Myoclonus, Familial, 1 |
|
Ataxia, Myoclonus, Falls, Frequent falls |
OMIM:614937 |
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4 |
|
Generalized myoclonic seizure, EEG with polyspike wave complexes, Bilateral tonic-clonic seizure |
OMIM:611364 |
Epilepsy, Familial Adult Myoclonic, 5 |
|
Bilateral tonic-clonic seizure, Seizure, Tremor, Focal sensory seizure, Focal sensory seizure wit... |
OMIM:615400 |
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome |
|
Left ventricular noncompaction cardiomyopathy, Torsade de pointes, Aborted sudden cardiac death, ... |
OMIM:115000 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4 |
|
Right ventricular cardiomyopathy, T-wave inversion in the right precordial leads, Ventricular arr... |
OMIM:602087 |
Myasthenic Syndrome, Congenital, 15 |
|
Fatigable weakness, Difficulty walking, Frequent falls |
OMIM:616227 |
Cerebellar Ataxia And Albinism |
|
Head tremor, Ataxia |
OMIM:258300 |
Spinocerebellar Ataxia 43 |
|
Rigidity, Distal sensory impairment, Ataxia, Tremor, Limb ataxia, Gait ataxia |
OMIM:617018 |
Cardiac Conduction Defect |
|
Syncope, Arrhythmia |
OMIM:115080 |
Ataxia With Myoclonic Epilepsy And Presenile Dementia |
|
Seizure, Ataxia, Generalized myoclonic seizure, Myoclonus |
OMIM:208700 |
X-Linked Intellectual Disability-Ataxia-Apraxia Syndrome |
|
Seizure, Ataxia, Apraxia |
ORPHA:85338 |
Dystonia 23 |
|
Torticollis, Head tremor, Myoclonus, Arrhythmia |
OMIM:614860 |
Dystonia 3, Torsion, X-Linked |
|
Chorea, Myoclonus, Tremor, Parkinsonism with favorable response to dopaminergic medication, Torsi... |
OMIM:314250 |
Alpha-Methylacyl-Coa Racemase Deficiency |
|
Seizure, Ataxia, Status epilepticus, Tremor, Spasticity |
OMIM:614307 |
Spinocerebellar Ataxia Type 31 |
|
Tremor, Impaired vibratory sensation, Gait ataxia, Spasticity |
ORPHA:217012 |
Succinic Semialdehyde Dehydrogenase Deficiency |
|
Ataxia, Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Status epilepticus |
ORPHA:22 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1 |
|
Sudden cardiac death, Right ventricular cardiomyopathy, Ventricular arrhythmia |
OMIM:107970 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 |
|
Syncope, Ventricular arrhythmia, Palpitations, Sudden cardiac death, Right ventricular cardiomyop... |
OMIM:610476 |
Cerebral Creatine Deficiency Syndrome 2 |
|
Progressive extrapyramidal movement disorder, Myoclonus, Seizure, Ataxia, Hypertonia |
OMIM:612736 |
Cardiomyopathy, Dilated, 1G |
|
Dilated cardiomyopathy, Reduced ejection fraction, Atrial fibrillation, Ventricular tachycardia, ... |
OMIM:604145 |
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures |
|
Bilateral tonic-clonic seizure, Myoclonic seizure, Focal impaired awareness seizure, Seizure, Ata... |
OMIM:617831 |
Developmental Delay With Dysmorphic Facies And Dental Anomalies |
|
Seizure, Ataxia, Spasticity |
OMIM:619228 |
Epilepsy, Progressive Myoclonic, 6 |
|
Generalized non-motor (absence) seizure, Myoclonus, Seizure, Ataxia, Tremor, Atonic seizure, Diff... |
OMIM:614018 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 |
|
Right ventricular cardiomyopathy, T-wave inversion in the right precordial leads, Ventricular arr... |
OMIM:602086 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6 |
|
Sudden cardiac death, Right ventricular cardiomyopathy, Premature ventricular contraction |
OMIM:604401 |
Familial Short Qt Syndrome |
|
Syncope, Shortened QT interval, Atrial fibrillation, Ventricular arrhythmia, Palpitations, Atriov... |
ORPHA:51083 |
Rare Non-Syndromic Intellectual Disability |
|
Dystonia, Bilateral tonic-clonic seizure, Dysgenesis of the basal ganglia, Absent septum pellucid... |
ORPHA:101685 |
Episodic Ataxia, Type 8 |
|
Ataxia, Slurred speech, Intention tremor, Episodic ataxia |
OMIM:616055 |
Progressive Familial Heart Block, Type Ib |
|
Syncope, Prolonged QT interval, Atrioventricular block, Left anterior fascicular block, Bradycard... |
OMIM:604559 |
Long Qt Syndrome 14 |
|
T-wave alternans, Sinus bradycardia, Prolonged QT interval, Atrioventricular block, Prolonged QTc... |
OMIM:616247 |
Spinocerebellar Ataxia 37 |
|
Unsteady gait, Ataxia, Tremor, Frequent falls |
OMIM:615945 |
Congenital Heart Defects, Multiple Types, 3 |
|
Atrial fibrillation, Atrioventricular dissociation, Atrioventricular block, Tachycardia, Right bu... |
OMIM:614954 |
Developmental And Epileptic Encephalopathy 94 |
|
Febrile seizure (within the age range of 3 months to 6 years), Tonic seizure, Bilateral tonic-clo... |
OMIM:615369 |
Sick Sinus Syndrome 4 |
|
Syncope, Abnormal QRS complex, Sinus bradycardia, Abnormal PR interval, Atrioventricular block, A... |
OMIM:619464 |
Ataxia-Hypogonadism-Choroidal Dystrophy Syndrome |
|
Ataxia |
ORPHA:1180 |
Cerebellar Ataxia And Neurosensory Deafness |
|
Ataxia |
OMIM:212850 |
Cerebellar Ataxia, Cayman Type |
|
Intention tremor, Nonprogressive cerebellar ataxia, Truncal ataxia, Broad-based gait, Gait ataxia |
ORPHA:94122 |
Sick Sinus Syndrome 1 |
|
Sinus bradycardia, Prolonged QT interval, Ventricular escape rhythm, Atrioventricular block, Abse... |
OMIM:608567 |
Ventricular Fibrillation, Paroxysmal Familial, 2 |
|
Sudden cardiac death, Premature ventricular contraction, Ventricular fibrillation |
OMIM:612956 |
Ataxia With Fasciculations |
|
Ataxia, Fasciculations |
OMIM:108700 |
X-Linked Spinocerebellar Ataxia Type 4 |
|
Postural tremor, Progressive cerebellar ataxia, Difficulty walking, Abnormal pyramidal sign |
ORPHA:85292 |
Maple Syrup Urine Disease |
|
Seizure, Ataxia, Hemiplegia/hemiparesis |
ORPHA:511 |
Spinocerebellar Ataxia Type 23 |
|
Impaired proprioception, Babinski sign, Dysmetria, Progressive cerebellar ataxia, Impaired distal... |
ORPHA:101108 |
Spinocerebellar Ataxia Type 38 |
|
Tremor, Gait ataxia, Difficulty walking, Somatic sensory dysfunction |
ORPHA:423296 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Gait disturbance, Rigidity, Dysmetria, Seizure, Hyperactivity, Inability to walk, Tremor, General... |
OMIM:618090 |
Cardiomyopathy, Familial Hypertrophic, 6 |
|
Hypertrophic cardiomyopathy, Sinus bradycardia, Atrial fibrillation, Ventricular preexcitation, A... |
OMIM:600858 |
Continuous Spikes And Waves During Sleep |
|
Focal hemiclonic seizure, Typical absence seizure, Bilateral tonic-clonic seizure, Focal clonic s... |
ORPHA:725 |
Seizures, Benign Familial Neonatal, Autosomal Recessive |
|
Normal interictal EEG, Bilateral tonic-clonic seizure |
OMIM:269720 |
Cardiomyopathy, Dilated, 1A |
|
Dilated cardiomyopathy, Third degree atrioventricular block, Sinus bradycardia, Atrial fibrillati... |
OMIM:115200 |
Developmental And Epileptic Encephalopathy 43 |
|
Hyperactivity, Ataxia, Seizure |
OMIM:617113 |
Brugada Syndrome 2 |
|
Syncope, Right bundle branch block, First degree atrioventricular block, Ventricular fibrillation... |
OMIM:611777 |
Cerebellar Atrophy, Developmental Delay, And Seizures |
|
Seizure, Bilateral tonic-clonic seizure with focal onset, EEG abnormality |
OMIM:617643 |
Myoclonic-Atonic Epilepsy |
|
Tremor, Ataxia, Eyelid myoclonus, Generalized non-motor (absence) seizure |
OMIM:616421 |
X-Linked Intellectual Disability-Plagiocephaly Syndrome |
|
Morning myoclonic jerks, Bradycardia |
ORPHA:2898 |
Atrial Fibrillation, Familial, 18 |
|
Palpitations, Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Bradycardia |
OMIM:617280 |
Primary Orthostatic Tremor |
|
Tremor, Abnormality of extrapyramidal motor function |
ORPHA:238606 |
Autosomal Dominant Epilepsy With Auditory Features |
|
EEG with focal epileptiform discharges, Bilateral tonic-clonic seizure, Nocturnal seizures, Inter... |
ORPHA:101046 |
Tremor Of Intention, Ataxia, And Lipofuscinosis |
|
Ataxia, Intention tremor |
OMIM:190200 |
Benign Familial Infantile Epilepsy |
|
Generalized clonic seizure, Normal interictal EEG, Limb myoclonus, Bilateral tonic-clonic seizure... |
ORPHA:306 |
Long Qt Syndrome 16 |
|
T-wave alternans, Prolonged QTc interval, Bradycardia, Second degree atrioventricular block |
OMIM:618782 |
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Babinski sign, Clonus, Myoclonic spasms, Rigidity, Multifocal seizures, Bradycardia, Seizure, Hyp... |
OMIM:614498 |
Developmental And Epileptic Encephalopathy 26 |
|
Infantile spasms, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Hypsarrhythmi... |
OMIM:616056 |
Spinocerebellar Ataxia, X-Linked 5 |
|
Ataxia, Action tremor |
OMIM:300703 |
Neurodegeneration With Brain Iron Accumulation 8 |
|
Dysmetria, Loss of ability to walk, Ataxia, Tremor, Unsteady gait |
OMIM:617917 |
Epilepsy, Myoclonic Juvenile |
|
Morning myoclonic jerks, Bilateral tonic-clonic seizure, Status epilepticus, Generalized non-moto... |
OMIM:254770 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Premature ventricular contraction, Ventricular tachycardia, Atrioventricular block, Cardiomyopath... |
OMIM:212138 |
Ichthyosis, Hepatosplenomegaly, And Cerebellar Degeneration |
|
Ataxia |
OMIM:242520 |
Alternating Hemiplegia Of Childhood 2 |
|
Dystonia, Episodic quadriplegia, Choreoathetosis, Seizure, Ataxia, Status epilepticus, Tetraplegi... |
OMIM:614820 |
Progressive Myoclonic Epilepsy Type 1 |
|
Morning myoclonic jerks, Myoclonus, Intention tremor, Ataxia, Limb ataxia |
ORPHA:308 |
Sudden Cardiac Failure, Infantile |
|
Hypertrophic cardiomyopathy, Myocarditis, Bradycardia, Seizure, Congestive heart failure |
OMIM:617222 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Dilated cardiomyopathy, Atrial fibrillation, Atrioventricular block, Supraventricular tachycardia... |
OMIM:612158 |
Atrioventricular Dissociation |
|
Congenital atrioventricular dissociation |
OMIM:209600 |
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Tremor, Ataxia, Babinski sign, Spasticity |
OMIM:611105 |
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 |
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Absence seizure with eyelid myoclonia, Bilateral tonic-clonic seizure, Myoclonus, Focal impaired ... |
OMIM:618587 |
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Frequent falls, Chorea, Tremor, Unsteady gait, Hemiballismus |
ORPHA:494526 |
Cardiomyopathy, Dilated, 1P |
|
Dilated cardiomyopathy, Reduced systolic function, Congestive heart failure, Ventricular arrhythmia |
OMIM:609909 |
Spinocerebellar Ataxia Type 37 |
|
Gait disturbance, Myoclonus, Falls, Cogwheel rigidity, Limb dysmetria, Tremor, Dysdiadochokinesis... |
ORPHA:363710 |
Sinoatrial Node Dysfunction And Deafness |
|
Bradycardia |
OMIM:614896 |
Autosomal Dominant Spastic Paraplegia Type 4 |
|
Impaired vibration sensation at ankles, Babinski sign, Lower limb spasticity, Seizure, Ataxia, An... |
ORPHA:100985 |
Myoclonus-Cerebellar Ataxia-Deafness Syndrome |
|
Progressive cerebellar ataxia, Myoclonus, Progressive gait ataxia, Intention tremor |
ORPHA:2589 |
Cortical Malformations, Occipital |
|
EEG abnormality, Bilateral tonic-clonic seizure |
OMIM:614115 |
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Premature ventricular contraction, Syncope, Tachycardia |
OMIM:192445 |
Autosomal Spastic Paraplegia Type 30 |
|
Babinski sign, Scissor gait, Spastic gait, Lower limb spasticity, Distal sensory impairment, Atax... |
ORPHA:101010 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type |
|
Gait disturbance, Babinski sign, Bilateral tonic-clonic seizure, Rigidity, Falls, Bradykinesia, I... |
OMIM:300423 |
Convulsive Disorder, Familial, With Prenatal Or Early Onset |
|
Seizure, Myoclonus |
OMIM:217200 |
Atrial Standstill |
|
Syncope, Abnormal P wave, Atrial standstill, Hemiplegia, Reduced ejection fraction, Ventricular e... |
ORPHA:1344 |
Segawa Syndrome, Autosomal Recessive |
|
Rigidity, Myoclonus, Abnormality of extrapyramidal motor function, Tremor, Parkinsonism with favo... |
OMIM:605407 |
Centralopathic Epilepsy |
|
Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, EEG with centrotemporal foc... |
OMIM:117100 |
Spinocerebellar Ataxia 45 |
|
Ataxia, Limb ataxia, Gait ataxia |
OMIM:617769 |
Parkinson Disease 24, Autosomal Dominant, Susceptibility To |
|
Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Rigidity |
OMIM:619491 |
Epilepsy, Familial Adult Myoclonic, 7 |
|
Seizure, Myoclonic tremor |
OMIM:618075 |
Leukoencephalopathy with metaphyseal chondrodysplasia |
|
Babinski sign, Gait disturbance, Leukoencephalopathy, Tremor, Abnormal cerebral white matter morp... |
OMIM:300660 |
Romano-Ward Syndrome |
|
Syncope, Sinus bradycardia, Abnormal T-wave, Ventricular arrhythmia, Torsade de pointes, Prolonge... |
ORPHA:101016 |
Infantile Spasms Syndrome |
|
Myoclonus, Infantile spasms |
ORPHA:3451 |
Rolandic Epilepsy-Speech Dyspraxia Syndrome |
|
EEG with generalized epileptiform discharges, Seizure, Bilateral tonic-clonic seizure with focal ... |
ORPHA:163721 |
Familial Focal Epilepsy With Variable Foci |
|
EEG with focal epileptiform discharges, Bilateral tonic-clonic seizure, Nocturnal seizures, Infan... |
ORPHA:98820 |
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion |
|
Takotsubo cardiomyopathy, Seizure precipitated by febrile infection, Bilateral tonic-clonic seizu... |
ORPHA:363549 |
Developmental And Epileptic Encephalopathy 38 |
|
Dystonia, Ataxia, Status epilepticus, Hypertonia |
OMIM:617020 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 3 |
|
Seizure, Bilateral tonic-clonic seizure |
OMIM:608762 |
Lichtenstein-Knorr Syndrome |
|
Dysmetria, Ataxia, Dysdiadochokinesis, Action tremor, Limb ataxia, Gait ataxia |
OMIM:616291 |
Atrial Septal Defect, Sinus Venosus Type |
|
Left-to-right shunt, Atrial fibrillation, Systolic heart murmur, Cardiac conduction abnormality, ... |
ORPHA:99105 |
Migraine, Familial Hemiplegic, 1 |
|
Hemiparesis, Seizure, Ataxia, Tremor, Hemiplegia |
OMIM:141500 |
Myoclonus, Cerebellar Ataxia, And Deafness |
|
Ataxia, Myoclonus |
OMIM:159800 |
Heart-Hand Syndrome, Slovenian Type |
|
Dilated cardiomyopathy, Abnormal atrioventricular conduction, Abnormal electrophysiology of sinoa... |
ORPHA:168796 |
Spinocerebellar Ataxia, Autosomal Recessive 17 |
|
Dysmetria, Unsteady gait, Truncal ataxia, Tremor |
OMIM:616127 |
Developmental And Epileptic Encephalopathy 97 |
|
Seizure, Tremor, Inability to walk, Stereotypical hand wringing, Epileptic spasm |
OMIM:619561 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 7 |
|
Myoclonus, Bilateral tonic-clonic seizure |
OMIM:604827 |
Paroxysmal Exertion-Induced Dyskinesia |
|
Involuntary movements, Dystonia, Paresthesia, Choreoathetosis, Chorea, Paroxysmal dyskinesia, Low... |
ORPHA:98811 |
Epilepsy, Idiopathic Generalized |
|
Generalized myoclonic seizure, EEG with spike-wave complexes (>3.5 Hz), Generalized non-motor (ab... |
OMIM:600669 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 15 |
|
Bilateral tonic-clonic seizure, Myoclonus, Seizure, Eyelid myoclonus, Generalized non-motor (abse... |
OMIM:618357 |
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Babinski sign, Myoclonus, Abnormality of extrapyramidal motor function, Seizure, Ataxia, Tremor |
OMIM:615362 |
Neuronopathy, Distal Hereditary Motor, Type Viia |
|
Tremor, Vocal cord paralysis, Difficulty walking, Vocal cord paresis |
OMIM:158580 |
Dysequilibrium Syndrome |
|
Seizure, Ataxia, Gait disturbance, Cerebral palsy |
ORPHA:1766 |
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome |
|
Impaired proprioception, Myoclonus, Fasciculations, Progressive cerebellar ataxia, Truncal ataxia... |
ORPHA:95434 |
Epilepsy, Familial Temporal Lobe, 8 |
|
Focal aware autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal ph... |
OMIM:616461 |
Andersen-Tawil Syndrome |
|
Dilated cardiomyopathy, Syncope, Prominent U wave, Bidirectional ventricular ectopy, Premature ve... |
ORPHA:37553 |
Parkinson Disease 19A, Juvenile-Onset |
|
Dystonia, Rigidity, Shuffling gait, Bradykinesia, Abnormal pyramidal sign, Seizure, Tremor, Spast... |
OMIM:615528 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Syncope, Ventricular arrhythmia, Ventricular tachycardia, Right ventricular cardiomyopathy, Prolo... |
OMIM:611528 |
Spinocerebellar Ataxia 29 |
|
Dysmetria, Impaired tandem gait, Intention tremor, Dysdiadochokinesis, Nonprogressive cerebellar ... |
OMIM:117360 |
Extrasystoles, Multiform Ventricular, With Short Stature, Hyperpigmentation And Microcephaly |
|
Premature ventricular contraction |
OMIM:133750 |
Alexander Disease |
|
Seizure, Ataxia, Spasticity |
OMIM:203450 |
Autosomal Recessive Spastic Paraplegia Type 71 |
|
Babinski sign, Hand tremor, Spastic gait, Lower limb spasticity, Progressive spastic paraplegia |
ORPHA:401840 |
Dravet Syndrome |
|
Focal hemiclonic seizure, Bilateral tonic-clonic seizure, Myoclonic seizure, Focal impaired aware... |
OMIM:607208 |
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Tud Deficiency |
|
Seizure, Ataxia |
ORPHA:404493 |
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Dystonia, Rigidity, Chorea, Myoclonus, Tremor, Ataxia, Upper motor neuron dysfunction, Parkinsonism |
ORPHA:401901 |
Developmental And Epileptic Encephalopathy 11 |
|
Status epilepticus, Spastic tetraplegia, Bilateral tonic-clonic seizure |
OMIM:613721 |
Long Qt Syndrome 15 |
|
Prolonged QT interval, Prolonged QTc interval, Bradycardia, Cardiac arrest, Ventricular fibrillation |
OMIM:616249 |
Cerebral Palsy, Ataxic, Autosomal Recessive |
|
Cerebral palsy, Dysdiadochokinesis, Broad-based gait |
OMIM:605388 |
Perioral Myoclonia With Absences |
|
Bilateral tonic-clonic seizure, EEG with spike-wave complexes, Chin myoclonus, Focal seizure with... |
ORPHA:139426 |
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant |
|
Focal impaired awareness seizure, EEG abnormality, Bilateral tonic-clonic seizure |
OMIM:610003 |
Spinocerebellar Ataxia 41 |
|
Unsteady gait, Ataxia |
OMIM:616410 |
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp |
|
Paroxysmal dystonia, Writer's cramp, Myoclonus, Focal hemifacial clonic seizure, Seizure, Tremor,... |
OMIM:608105 |
Cerebellar Ataxia, Cayman Type |
|
Gait ataxia, Broad-based gait, Intention tremor |
OMIM:601238 |
Coenzyme Q10 Deficiency, Primary, 7 |
|
Hypertrophic cardiomyopathy, Seizure, Bradycardia |
OMIM:616276 |
Developmental And Epileptic Encephalopathy 30 |
|
Seizure, Generalized myoclonic seizure, Hypsarrhythmia, Bilateral tonic-clonic seizure |
OMIM:616341 |
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome |
|
Premature ventricular contraction, Heart block |
ORPHA:1964 |
Myoclonic Epilepsy Of Unverricht And Lundborg |
|
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure, Interictal epileptiform ... |
OMIM:254800 |
Adult Neuronal Ceroid Lipofuscinosis |
|
Clumsiness, Myoclonus, Abnormality of extrapyramidal motor function, Seizure, Ataxia, Tremor, Spa... |
ORPHA:79262 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Dystonia, Myoclonus, Seizure, Ataxia, Hyperactivity, Tremor, Tetraparesis, Spasticity, Abnormal p... |
OMIM:615924 |
Developmental And Epileptic Encephalopathy 40 |
|
Seizure, Myoclonus, Spasticity, Choreoathetosis |
OMIM:617065 |
Myopathy, Myofibrillar, 1 |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Third degree atrioventricular block, Restric... |
OMIM:601419 |
Cardiomyopathy, Dilated, 1B |
|
Dilated cardiomyopathy, Impaired myocardial contractility, Congestive heart failure, Ventricular ... |
OMIM:600884 |
Lennox-Gastaut Syndrome |
|
Bilateral tonic-clonic seizure, Myoclonus, EEG with focal sharp slow waves, Atonic seizure, EEG a... |
ORPHA:2382 |
Epilepsy, Progressive Myoclonic, 8 |
|
Myoclonus, Bilateral tonic-clonic seizure |
OMIM:616230 |
Dentatorubral-Pallidoluysian Atrophy |
|
Choreoathetosis, Chorea, Myoclonus, Seizure, Ataxia, Abnormal pyramidal sign |
OMIM:125370 |
Supravalvular Aortic Stenosis |
|
Supravalvular aortic stenosis, Arrhythmia |
ORPHA:3193 |
Leukodystrophy, Hypomyelinating, 11 |
|
Tremor, Ataxia, Spasticity |
OMIM:616494 |
Naxos Disease |
|
Dilated cardiomyopathy, Syncope, Paroxysmal ventricular tachycardia, Premature ventricular contra... |
OMIM:601214 |
Pyridoxine-Dependent Epilepsy |
|
Bilateral tonic-clonic seizure, EEG with generalized epileptiform discharges, Early onset absence... |
ORPHA:3006 |
Epilepsy, Progressive Myoclonic, 11 |
|
Rigidity, Myoclonus, Intention tremor, Seizure, Ataxia |
OMIM:618876 |
Spastic Ataxia 2, Autosomal Recessive |
|
Babinski sign, Head titubation, Frequent falls, Dysmetria, Spastic ataxia, Fasciculations, Tremor... |
OMIM:611302 |
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness |
|
Ataxia |
OMIM:136600 |
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type) |
|
Myoclonus, Abnormality of extrapyramidal motor function, Seizure, Ataxia, Parkinsonism |
OMIM:162350 |
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy |
|
Sudden cardiac death, Arrhythmia |
OMIM:212500 |
His Bundle Tachycardia |
|
Cardiomyopathy, Arrhythmia, Junctional ectopic tachycardia |
ORPHA:3283 |
Autosomal Dominant Spastic Ataxia Type 1 |
|
Impaired proprioception, Dystonia, Babinski sign, Spastic gait, Spastic dysarthria, Lower limb sp... |
ORPHA:251282 |
Dystonia 31 |
|
Arm dystonia, Writer's cramp, Craniofacial dystonia, Difficulty walking, Generalized dystonia, Pa... |
OMIM:619565 |
Spinocerebellar Ataxia Type 35 |
|
Babinski sign, Pseudobulbar paralysis, Dysmetria, Torticollis, Intention tremor, Progressive cere... |
ORPHA:276193 |
Emery-Dreifuss Muscular Dystrophy 1, X-Linked |
|
Sudden cardiac death, Atrioventricular block, Atrial arrhythmia |
OMIM:310300 |
Developmental And Epileptic Encephalopathy 37 |
|
Rigidity, Choreoathetosis, Myoclonus, Seizure, Hyperkinetic movements, Spasticity |
OMIM:616981 |
Polymyoclonus, Infantile |
|
Ataxia, Myoclonus |
OMIM:263550 |
Spinocerebellar Ataxia Type 20 |
|
Kinetic tremor, Tremor by anatomical site, Bradykinesia, Isometric tremor, Laryngeal dystonia, In... |
ORPHA:101110 |
Familial Progressive Cardiac Conduction Defect |
|
Syncope, Heart block, Bundle branch block, Congestive heart failure, Arrhythmia |
ORPHA:871 |
Chronic Atrial And Intestinal Dysrhythmia |
|
Atrial fibrillation, Mitral regurgitation, Bradycardia, Pulmonic stenosis, Atrial flutter, Sick s... |
OMIM:616201 |
Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Dystonia, Bilateral tonic-clonic seizure, Rigidity, Bradykinesia, Tremor, Ataxia, Generalized myo... |
OMIM:617836 |
Spinocerebellar Ataxia 23 |
|
Babinski sign, Dysmetria, Impaired vibration sensation in the lower limbs, Tremor, Limb ataxia, G... |
OMIM:610245 |
Spinocerebellar Ataxia 40 |
|
Dysmetria, Intention tremor, Dysdiadochokinesis, Broad-based gait, Unsteady gait, Spastic parapar... |
OMIM:616053 |
Developmental And Epileptic Encephalopathy 9 |
|
Bilateral tonic-clonic seizure, Status epilepticus, Atonic seizure, Focal-onset seizure, Generali... |
OMIM:300088 |
Epilepsy, Nocturnal Frontal Lobe, 2 |
|
Status epilepticus, Bilateral tonic-clonic seizure |
OMIM:603204 |
Spastic Paraplegia 6, Autosomal Dominant |
|
Babinski sign, Clonus, Spastic gait, Lower limb spasticity, Impaired vibration sensation in the l... |
OMIM:600363 |
Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Dystonia, Babinski sign, Frequent falls, Myoclonus, Fasciculations, Tremor, Ataxia, Spasticity, G... |
OMIM:607317 |
Epilepsy, Juvenile Absence, Susceptibility To, 1 |
|
Generalized myoclonic seizure, EEG with spike-wave complexes (>3.5 Hz), Generalized non-motor (ab... |
OMIM:607631 |
Tremor, Hereditary Essential, 6 |
|
Postural tremor, Head tremor, Kinetic tremor, Vocal tremor |
OMIM:618866 |
Deafness, Congenital, And Familial Myoclonic Epilepsy |
|
Generalized myoclonic seizure, Myoclonus |
OMIM:220300 |
Tremor, Hereditary Essential, 5 |
|
Postural tremor, Tongue tremor, Kinetic tremor, Intention tremor |
OMIM:616736 |
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 |
Autosomal Dominant Non-Syndromic Intellectual Disability |
|
Leukoencephalopathy, Focal impaired awareness seizure, Stereotypy, Seizure, Bilateral generalized... |
ORPHA:178469 |
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 |
Unilateral Hemispheric Polymicrogyria |
|
Focal atonic seizure, EEG with focal epileptiform discharges, Infantile spasms, Bilateral tonic-c... |
ORPHA:101071 |
Autosomal Spastic Paraplegia Type 72 |
|
Postural tremor, Impaired vibration sensation at ankles, Spastic gait, Rigidity |
ORPHA:401849 |
Cardiomyopathy, Familial Hypertrophic, 11 |
|
Hypertrophic cardiomyopathy, Arrhythmia |
OMIM:612098 |
Glycogen Storage Disease 0, Muscle |
|
Cardiomyopathy, Bilateral tonic-clonic seizure |
OMIM:611556 |
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 |
Bilateral Generalized Polymicrogyria |
|
Stereotypy, Focal-onset seizure, Oculogyric crisis, Generalized tonic seizure, Abnormal hippocamp... |
ORPHA:208447 |
Spinocerebellar Ataxia, Autosomal Recessive 12 |
|
Babinski sign, Seizure, Ataxia, Spasticity, Limb ataxia, Gait ataxia |
OMIM:614322 |
Spinocerebellar Ataxia Type 40 |
|
Dysmetria, Intention tremor, Dysdiadochokinesis, Broad-based gait, Unsteady gait, Gait ataxia, Sp... |
ORPHA:423275 |
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type) |
|
Seizure, Ataxia, Myoclonus, Abnormality of extrapyramidal motor function |
OMIM:204300 |
Spinocerebellar Ataxia, Autosomal Recessive 22 |
|
Dysmetria, Lower limb spasticity, Intention tremor, Ataxia, Truncal ataxia, Unsteady gait, Abnorm... |
OMIM:616948 |
Dystonia, Dopa-Responsive |
|
Postural tremor, Dystonia, Babinski sign, Writer's cramp, Torticollis, Bradykinesia, Cogwheel rig... |
OMIM:128230 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Seizure, Ataxia, Tremor, Stereotypy |
OMIM:617862 |
Seizures, Benign Familial Neonatal, 2 |
|
Bilateral tonic-clonic seizure, Focal clonic seizure |
OMIM:121201 |
Glycogen Storage Disease Xv |
|
Ventricular arrhythmia, Right bundle branch block |
OMIM:613507 |
Jervell And Lange-Nielsen Syndrome 1 |
|
Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QT interval |
OMIM:220400 |
Familial Dyskinesia And Facial Myokymia |
|
Dilated cardiomyopathy, Limb hypertonia, Chorea, Myoclonus, Resting tremor, Congestive heart failure |
ORPHA:324588 |
Paralysis Agitans, Juvenile, Of Hunt |
|
Dystonia, Gait disturbance, Rigidity, Bradykinesia, Tremor, Parkinsonism |
OMIM:168100 |
Spinocerebellar Ataxia Type 14 |
|
Rigidity, Myoclonus, Tremor, Progressive cerebellar ataxia, Limb ataxia, Gait ataxia, Somatic sen... |
ORPHA:98763 |
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Dystonia, Bilateral tonic-clonic seizure, Oculogyric crisis, Focal impaired awareness seizure, Se... |
ORPHA:330050 |
Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Babinski sign, Tremor, Truncal ataxia, Spasticity, Ankle clonus, Unsteady gait, Limb ataxia |
OMIM:615768 |
Benign Adult Familial Myoclonic Epilepsy |
|
Hand tremor, Myoclonus, Generalized-onset seizure, Focal-onset seizure |
ORPHA:86814 |
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Rubcn Deficiency |
|
Seizure, Limb ataxia, Gait ataxia |
ORPHA:404499 |
Episodic Ataxia, Type 9 |
|
Tonic seizure, Bilateral tonic-clonic seizure, Seizure, Clonic seizure, Status epilepticus, Episo... |
OMIM:618924 |
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Ventricular escape rhythm, Bradycardia, Seizure, Poor fine motor coordination, Prolonged PR inter... |
ORPHA:542306 |
X-Linked Non Progressive Cerebellar Ataxia |
|
Clumsiness, Frequent falls, Spastic dysarthria, Intention tremor, Nonprogressive cerebellar ataxi... |
ORPHA:314978 |
Alternating Hemiplegia Of Childhood 1 |
|
Episodic quadriplegia, Bilateral tonic-clonic seizure, Choreoathetosis, Tetraplegia, Episodic hem... |
OMIM:104290 |
Wolff-Parkinson-White Syndrome |
|
Syncope, Ventricular preexcitation, Palpitations, Ventricular preexcitation with multiple accesso... |
OMIM:194200 |
Desminopathy |
|
Concentric hypertrophic cardiomyopathy, Atrioventricular block, Congestive heart failure, Sudden ... |
ORPHA:98909 |
Spinocerebellar Ataxia Type 12 |
|
Postural tremor, Gait disturbance, Parkinsonism, Tremor by anatomical site, Bradykinesia, Limb dy... |
ORPHA:98762 |
Spinocerebellar Ataxia 35 |
|
Babinski sign, Dysmetria, Torticollis, Intention tremor, Ataxia, Incoordination, Difficulty walking |
OMIM:613908 |
Juvenile Absence Epilepsy |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, My... |
ORPHA:1941 |
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, Familial Adult Myoclonic, 2 |
|
Jerk-locked premyoclonus spikes, Bilateral tonic-clonic seizure, Giant somatosensory evoked poten... |
OMIM:607876 |
Pontocerebellar Hypoplasia, Type 15 |
|
Partial agenesis of the corpus callosum, Dystonia, Bilateral tonic-clonic seizure, Infantile spas... |
OMIM:619302 |
Short Qt Syndrome 2 |
|
Syncope, Shortened QT interval, Atrial fibrillation, Bradycardia, Sudden cardiac death, Ventricul... |
OMIM:609621 |
Leukodystrophy, Hypomyelinating, 16 |
|
Dystonia, Dysmetria, Intention tremor, Seizure, Hypertonia, Broad-based gait, Abnormal pyramidal ... |
OMIM:617964 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 9 |
|
EEG with polyspike wave complexes, Generalized non-motor (absence) seizure, Morning myoclonic jer... |
OMIM:607682 |
Spinocerebellar Ataxia 18 |
|
Babinski sign, Dysmetria, Progressive gait ataxia, Tremor, Dysdiadochokinesis |
OMIM:607458 |
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis |
|
Tremor, Spastic paraplegia |
OMIM:309560 |
Tako-Tsubo Cardiomyopathy |
|
Syncope, Ventricular arrhythmia, Mildly reduced ejection fraction, ST segment depression, Low-out... |
ORPHA:66529 |
Epilepsy, Progressive Myoclonic, 9 |
|
Seizure, Status epilepticus, Myoclonus, Gait ataxia |
OMIM:616540 |
Glutathionuria |
|
Tremor |
OMIM:231950 |
Spinocerebellar Ataxia 38 |
|
Ataxia, Limb ataxia, Gait ataxia |
OMIM:615957 |
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Tremor, Gait disturbance, Kinetic tremor |
OMIM:611808 |
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 |
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity |
|
Dystonia, Paresthesia, Bilateral tonic-clonic seizure, Choreoathetosis, Paroxysmal dyskinesia, Ep... |
ORPHA:53583 |
Developmental And Epileptic Encephalopathy 6B |
|
Focal hemiclonic seizure, Dystonia, Generalized non-motor (absence) seizure, Tonic seizure, Bilat... |
OMIM:619317 |
Infantile Osteopetrosis With Neuroaxonal Dysplasia |
|
Partial agenesis of the corpus callosum, Conductive hearing impairment, Pneumonia, Seizure, Hypop... |
ORPHA:85179 |
Incessant Infant Ventricular Tachycardia |
|
Abnormal P wave, Histiocytoid cardiomyopathy, Ventricular tachycardia, Supraventricular tachycard... |
ORPHA:45453 |
Epilepsy, Familial Temporal Lobe, 3 |
|
Deja vu aura, Bilateral tonic-clonic seizure with focal onset, Focal impaired awareness seizure |
OMIM:611630 |
Diaminopentanuria |
|
Seizure, Ataxia, Spasticity |
OMIM:222350 |
Primary Dystonia, Dyt27 Type |
|
Axial dystonia, Writer's cramp, Oromandibular dystonia, Focal dystonia, Laryngeal dystonia, Actio... |
ORPHA:464440 |
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation |
|
Clumsiness, Babinski sign, Poor coordination, Dysmetria, Spastic ataxia, Tremor, Ankle clonus, Br... |
OMIM:270500 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Clumsiness, Myoclonic status epilepticus, Limb myoclonus, Typical absence seizure, Frequent falls... |
ORPHA:2590 |
Landau-Kleffner Syndrome |
|
EEG with temporal focal spikes, Non-convulsive status epilepticus without coma, Bilateral tonic-c... |
ORPHA:98818 |
Coenzyme Q10 Deficiency, Primary, 5 |
|
Seizure, Hypertonia, Bradycardia |
OMIM:614654 |
Spinocerebellar Ataxia, Autosomal Recessive 15 |
|
Unsteady gait, Ataxia, Gait ataxia, Seizure |
OMIM:615705 |
Myoclonic Epilepsy Associated With Ragged-Red Fibers |
|
Myoclonus, Seizure, Ataxia, Spasticity, Generalized myoclonic seizure |
OMIM:545000 |
Coenzyme Q10 Deficiency, Primary, 4 |
|
Myoclonus, Seizure, Ataxia, Tremor, Abnormal pyramidal sign |
OMIM:612016 |
Dystonia 27 |
|
Postural tremor, Writer's cramp, Oromandibular dystonia, Laryngeal dystonia, Action tremor |
OMIM:616411 |
Spinocerebellar Ataxia 31 |
|
Ataxia, Limb ataxia, Gait ataxia |
OMIM:117210 |
Parkinsonism With Spasticity, X-Linked |
|
Babinski sign, Cogwheel rigidity, Bradykinesia, Resting tremor, Spasticity, Parkinsonism |
OMIM:300911 |
Spinocerebellar Ataxia, Autosomal Recessive 10 |
|
Dysmetria, Fasciculations, Intention tremor, Truncal ataxia, Limb ataxia, Gait ataxia |
OMIM:613728 |
Primary Dystonia, Dyt13 Type |
|
Postural tremor, Dystonia, Involuntary movements, Torticollis, Focal dystonia, Stereotypy, Cranio... |
ORPHA:98807 |
Ceroid Lipofuscinosis, Neuronal, 8 |
|
Seizure, Ataxia, Myoclonus |
OMIM:600143 |
Spinocerebellar Ataxia 19 |
|
Postural tremor, Myoclonus, Cogwheel rigidity, Progressive cerebellar ataxia, Truncal ataxia, Lim... |
OMIM:607346 |
3-Methylglutaconic Aciduria, Type Viii |
|
Seizure, Hypertonia, Bradycardia, Tremor |
OMIM:617248 |
Ataxia, Deafness, And Cardiomyopathy |
|
Ataxia |
OMIM:208750 |
Seizures, Benign Familial Infantile, 1 |
|
Normal interictal EEG, Focal impaired awareness seizure, Bilateral tonic-clonic seizure with foca... |
OMIM:601764 |
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Arrhythmia, Bradycardia, Atrial fibrillation |
OMIM:614302 |
Paroxysmal Extreme Pain Disorder |
|
Tachycardia, Bradycardia |
OMIM:167400 |
Atrial Septal Defect 6 |
|
Atrial fibrillation, Bradycardia |
OMIM:613087 |
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia |
|
Clumsiness, Babinski sign, Dysmetria, Progressive gait ataxia, Intention tremor, Progressive cere... |
ORPHA:284332 |
Attrv30M Amyloidosis |
|
Atrioventricular block, Arrhythmia, Cardiomyopathy |
ORPHA:85447 |
Epilepsy, Pyridoxine-Dependent |
|
Status epilepticus, Generalized myoclonic seizure, Bilateral tonic-clonic seizure |
OMIM:266100 |
Spinal Muscular Atrophy, Jokela Type |
|
Distal sensory impairment, Difficulty walking, Fasciculations, Tremor |
OMIM:615048 |
Spinocerebellar Ataxia, X-Linked 1 |
|
Ataxia, Action tremor, Intention tremor |
OMIM:302500 |
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Hypertension, Bilateral tonic-clonic seizure, Hemiparesis, Congestive heart failure, Wolff-Parkin... |
OMIM:540000 |
Myoclonus-Dystonia Syndrome |
|
Torticollis, Spinal myoclonus, Myoclonus, Limb myoclonus |
ORPHA:36899 |
Foxg1 Syndrome |
|
Dystonia, Bilateral tonic-clonic seizure, Infantile spasms, Choreoathetosis, Myoclonus, Abnormal ... |
ORPHA:561854 |
Developmental And Epileptic Encephalopathy 92 |
|
Dystonia, Myoclonus, Seizure, Ataxia, Inability to walk, Spasticity, Difficulty walking, Lethargy |
OMIM:617829 |
Tremor, Hereditary Essential, 1 |
|
Postural tremor, Hand tremor, Action tremor |
OMIM:190300 |
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions |
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Myoclonic status epilepticus, Myoclonic seizure, Bilateral tonic-clonic seizure with focal onset,... |
OMIM:611726 |
Jeavons Syndrome |
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EEG with hyperventilation-induced epileptiform discharges, Febrile seizure (within the age range ... |
ORPHA:139431 |
Long Qt Syndrome 1 |
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Syncope, Prolonged QT interval, Torsade de pointes, Prolonged QTc interval, Sudden cardiac death,... |
OMIM:192500 |
Brugada Syndrome 1 |
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Syncope, Atrial fibrillation, Supraventricular tachycardia with an accessory connection mediated ... |
OMIM:601144 |
Cardiomyopathy, Familial Hypertrophic, 4 |
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Hypertrophic cardiomyopathy, Syncope, Atrioventricular block, Left bundle branch block, Transient... |
OMIM:115197 |
Spinocerebellar Ataxia, X-Linked 4 |
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Tremor, Ataxia, Abnormal pyramidal sign |
OMIM:301840 |
Corticobasal Syndrome |
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Involuntary movements, Dystonia, Gait disturbance, Oromotor apraxia, Limb myoclonus, Myoclonus, L... |
ORPHA:454887 |
Combined Oxidative Phosphorylation Defect Type 27 |
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Involuntary movements, Multifocal seizures, Abnormal cerebral white matter morphology, Hearing im... |
ORPHA:477774 |
Jervell And Lange-Nielsen Syndrome 2 |
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Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QT interval |
OMIM:612347 |
Leukoencephalopathy, Progressive, With Ovarian Failure |
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Dystonia, Tremor, Ataxia, Apraxia, Spasticity |
OMIM:615889 |
Kearns-Sayre Syndrome |
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Ataxia, Third degree atrioventricular block, Hemiplegia/hemiparesis |
ORPHA:480 |
Nystagmus, Myoclonic |
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Myoclonus |
OMIM:310800 |
Spinocerebellar Ataxia, Autosomal Recessive 2 |
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Dysmetria, Tremor, Ataxia, Incoordination, Spasticity, Unsteady gait, Limb ataxia, Gait ataxia |
OMIM:213200 |
Epilepsy, Progressive Myoclonic, 12 |
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Bilateral tonic-clonic seizure, Dysmetria, Myoclonus, Ataxia, Attention deficit hyperactivity dis... |
OMIM:619191 |
Long Qt Syndrome 3 |
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Syncope, Prolonged QT interval, Torsade de pointes, Sudden cardiac death, Ventricular fibrillation |
OMIM:603830 |
Long Qt Syndrome 2 |
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Syncope, Prolonged QT interval, Torsade de pointes, Sudden cardiac death, Ventricular fibrillation |
OMIM:613688 |
Long Qt Syndrome 6 |
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Syncope, Prolonged QT interval, Torsade de pointes, Sudden cardiac death, Ventricular fibrillation |
OMIM:613693 |
Long Qt Syndrome 5 |
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Syncope, Prolonged QT interval, Torsade de pointes, Sudden cardiac death, Ventricular fibrillation |
OMIM:613695 |
Jervell And Lange-Nielsen Syndrome |
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Syncope, Torsade de pointes, Prolonged QTc interval, Seizure, Arrhythmia, Ventricular fibrillation |
ORPHA:90647 |
Autosomal Dominant Spastic Paraplegia Type 6 |
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Postural tremor, Gait disturbance, Babinski sign, Bilateral tonic-clonic seizure, Lower limb spas... |
ORPHA:100988 |
Idiopathic Neonatal Atrial Flutter |
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Abnormal QRS complex, Reduced ejection fraction, Supraventricular tachycardia, Abnormal atriovent... |
ORPHA:45452 |
Lissencephaly 10 |
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Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, To... |
OMIM:618873 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
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Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Seizure, Bradycardia |
OMIM:618815 |
Febrile Seizures, Familial, 5 |
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Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Atonic ... |
OMIM:609255 |
Febrile Seizures, Familial, 6 |
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Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Atonic ... |
OMIM:609253 |
Febrile Seizures, Familial, 4 |
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Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Atonic ... |
OMIM:604352 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 17 |
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Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Atonic ... |
OMIM:602477 |
Febrile Seizures, Familial, 1 |
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Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Atonic ... |
OMIM:121210 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
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Dilated cardiomyopathy, Sudden cardiac death, Congestive heart failure, Ventricular arrhythmia |
OMIM:601493 |
Coenzyme Q10 Deficiency, Primary, 9 |
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Dysmetria, Myoclonus, Lower limb spasticity, Impaired tandem gait, Tremor, Ataxia, Bilateral toni... |
OMIM:619028 |
Myoclonic Epilepsy Of Infancy |
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Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Po... |
ORPHA:86909 |
Brain Small Vessel Disease 2 |
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Intracranial hemorrhage, Bilateral tonic-clonic seizure, Spastic tetraplegia, Focal-onset seizure... |
OMIM:614483 |
Behr Syndrome |
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Progressive spasticity, Gait disturbance, Babinski sign, Dysmetria, Tremor, Ataxia |
OMIM:210000 |
Seizures, Benign Familial Infantile, 5 |
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Bilateral tonic-clonic seizure |
OMIM:617080 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 12 |
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Bilateral tonic-clonic seizure |
OMIM:614847 |
Seizures, Benign Familial Neonatal, 3 |
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Bilateral tonic-clonic seizure |
OMIM:608217 |
Pontocerebellar Hypoplasia, Type 14 |
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Dystonia, Infantile spasms, Bilateral tonic-clonic seizure, Delayed social development, Myoclonic... |
OMIM:619301 |
Alpers-Huttenlocher Syndrome |
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Progressive spasticity, Bilateral tonic-clonic seizure, Choreoathetosis, Myoclonus, Paraparesis, ... |
ORPHA:726 |
Parkinson Disease 13, Autosomal Dominant, Susceptibility To |
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Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Rigidity |
OMIM:610297 |
Leber Hereditary Optic Neuropathy |
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Postural tremor, Ventricular preexcitation, Retinal telangiectasia, Ataxia, Arrhythmia |
ORPHA:104 |
New-Onset Refractory Status Epilepticus |
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EEG with temporal epileptiform discharges, Seizure precipitated by febrile infection, Bilateral t... |
ORPHA:363558 |
Glut1 Deficiency Syndrome 1 |
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Paralysis, Paroxysmal dystonia, Babinski sign, Choreoathetosis, Paroxysmal lethargy, Myoclonus, H... |
OMIM:606777 |
Seizures, Benign Familial Infantile, 3 |
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Bilateral tonic-clonic seizure with focal onset, Normal interictal EEG, Focal impaired awareness ... |
OMIM:607745 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 14 |
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Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Se... |
OMIM:616685 |
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy |
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Bilateral tonic-clonic seizure, Interictal epileptiform activity, Myoclonic seizure, Seizure, Foc... |
OMIM:619157 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
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Gait disturbance, Opisthotonus, Frequent falls, Seizure, Inability to walk, Generalized dystonia,... |
ORPHA:216866 |
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay |
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Attention deficit hyperactivity disorder, Inability to walk, Lower limb spasticity, Bilateral ton... |
OMIM:619639 |
Cardiac Arrhythmia, Ankyrin-B-Related |
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Syncope, Sinus bradycardia, Prolonged QT interval, Atrial fibrillation, Sudden cardiac death |
OMIM:600919 |
Isolated Focal Cortical Dysplasia |
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Infantile spasms, Nocturnal seizures, Focal impaired awareness seizure, Hemiparesis, Seizure, Bil... |
ORPHA:65683 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
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Dystonia, Choreoathetosis, Seizure, Ataxia, Hyperactivity, Tremor, Oculomotor apraxia, Spasticity |
OMIM:612716 |
Ceroid Lipofuscinosis, Neuronal, 3 |
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Concentric hypertrophic cardiomyopathy, Myoclonus, Abnormality of extrapyramidal motor function, ... |
OMIM:204200 |
Epilepsy, Early-Onset, Vitamin B6-Dependent |
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Seizure, Clonus, Myoclonus, Hypertonia |
OMIM:617290 |
Hereditary Continuous Muscle Fiber Activity |
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Seizure, Ataxia, Spastic gait, Slurred speech |
ORPHA:972 |
Early Myoclonic Encephalopathy |
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Infantile spasms, Focal tonic seizure, Myoclonus, Focal motor seizure, Focal seizure with eyelid ... |
ORPHA:1935 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
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Athetosis, Hypertension, Intracranial hemorrhage, Bilateral tonic-clonic seizure, Cerebral palsy,... |
ORPHA:369929 |
Combined Saposin Deficiency |
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Babinski sign, Myoclonus, Fasciculations, Hyperkinetic movements, Generalized clonic seizure |
OMIM:611721 |
Hyperphenylalaninemia, Bh4-Deficient, C |
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Dystonia, Choreoathetosis, Myoclonus, Seizure, Tremor, Hypertonia |
OMIM:261630 |
Parasomnia, Sleep Bruxism Type |
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Myoclonus |
OMIM:606840 |
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities |
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Involuntary movements, Dystonia, Gait disturbance, Chorea, Myoclonus, Ataxia, Craniofacial dyston... |
OMIM:617282 |
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
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Frequent falls, Myoclonus, Fasciculations, Seizure, Tremor, Generalized-onset seizure, Tongue fas... |
OMIM:159950 |
Developmental And Epileptic Encephalopathy 52 |
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Focal hemiclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Seizure,... |
OMIM:617350 |
Generalized Epilepsy With Febrile Seizures Plus, Type 9 |
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Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo... |
OMIM:616172 |
Atypical Juvenile Parkinsonism |
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Involuntary movements, Dystonia, Rigidity, Myoclonus, Shuffling gait, Bradykinesia, Seizure, Inab... |
ORPHA:391411 |
Parkinson Disease 15, Autosomal Recessive Early-Onset |
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Babinski sign, Dystonia, Rigidity, Scissor gait, Abnormality of extrapyramidal motor function, Br... |
OMIM:260300 |
Encephalopathy Due To Prosaposin Deficiency |
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Myoclonus, Bilateral tonic-clonic seizure |
ORPHA:139406 |
Global Developmental Delay, Progressive Ataxia, And Elevated Glutamine |
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Progressive cerebellar ataxia, Febrile seizure (within the age range of 3 months to 6 years) |
OMIM:618412 |
Long Qt Syndrome 9 |
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Sinus bradycardia, Prolonged QT interval, Cardiac arrest, Ventricular arrhythmia |
OMIM:611818 |
Myoclonus, Familial, 2 |
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Limb myoclonus |
OMIM:618364 |
Epilepsy, Familial Adult Myoclonic, 6 |
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Myoclonic tremor |
OMIM:618074 |
Hemifacial Spasm, Familial |
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Hemifacial spasm |
OMIM:141405 |
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures |
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Dystonia, Poor coordination, Focal motor status epilepticus, Chorea, Paroxysmal dyskinesia, Falls... |
OMIM:619150 |
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements |
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Seizure, Myoclonus, Hyperkinetic movements, Choreoathetosis |
OMIM:618497 |
Urocanic Aciduria |
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Ataxia, Truncal ataxia, Action tremor, Broad-based gait, Gait ataxia |
ORPHA:210128 |
Generalized Epilepsy With Febrile Seizures Plus, Type 7 |
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Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... |
OMIM:613863 |
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome |
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EEG with spike-wave complexes (>3.5 Hz), Generalized-onset seizure, Generalized non-motor (absenc... |
ORPHA:79137 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
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Paralysis, Choreoathetosis, Chorea, Myoclonus, Extrapyramidal dyskinesia, Hemiparesis, Seizure, A... |
ORPHA:71277 |
Spinocerebellar Ataxia, Autosomal Recessive 6 |
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Clumsiness, Dysmetria, Intention tremor, Ataxia, Spasticity, Gait ataxia |
OMIM:608029 |
Ceroid Lipofuscinosis, Neuronal, 2 |
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Seizure, Ataxia, Myoclonus |
OMIM:204500 |
Parkinson Disease 2, Autosomal Recessive Juvenile |
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Dystonia, Gait disturbance, Rigidity, Bradykinesia, Tremor, Parkinsonism |
OMIM:600116 |
Cardiomyopathy, Dilated, 1R |
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Dilated cardiomyopathy, Restrictive cardiomyopathy, Congestive heart failure, Ventricular arrhythmia |
OMIM:613424 |
Spinocerebellar Ataxia 12 |
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Axial dystonia, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis, Action tremor, Head... |
OMIM:604326 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
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Dysmetria, Steppage gait, Distal sensory impairment, Ataxia, Tremor, Gait ataxia |
OMIM:618387 |
Scorpion Envenomation |
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Myocarditis, Prominent U wave, Hypertension, Premature ventricular contraction, Cardiac conductio... |
ORPHA:466677 |
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures |
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Babinski sign, Dysmetria, Seizure, Ataxia, Tremor, Tongue fasciculations |
OMIM:618170 |
Congenital Myasthenic Syndromes With Glycosylation Defect |
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Favorable response of weakness to acetylcholine esterase inhibitors, Frequent falls, Abnormal per... |
ORPHA:353327 |
Glycosylphosphatidylinositol Biosynthesis Defect 15 |
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Bilateral tonic-clonic seizure, Dysmetria, Myoclonic seizure, Tremor, Inability to walk, Atonic s... |
OMIM:617810 |
Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
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Bilateral tonic-clonic seizure, Pseudobulbar paralysis, Focal impaired awareness seizure, Hearing... |
ORPHA:208441 |
Developmental And Epileptic Encephalopathy 4 |
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Bilateral tonic-clonic seizure, Hypsarrhythmia, Tremor, EEG with burst suppression, Status epilep... |
OMIM:612164 |
Hereditary Geniospasm |
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Chin myoclonus |
ORPHA:53372 |
X-Linked Intellectual Disability, Hedera Type |
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Gait disturbance, Babinski sign, Bilateral tonic-clonic seizure, Frequent falls, Dysmetria, Extra... |
ORPHA:93952 |
Geniospasm 1 |
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Chin myoclonus |
OMIM:190100 |
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia |
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Postural tremor, Clumsiness, Babinski sign, Dysmetria, Progressive gait ataxia, Progressive cereb... |
ORPHA:284324 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
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Palpitations, Syncope, Sinus bradycardia, Atrioventricular block |
OMIM:616812 |
Benign Familial Neonatal Epilepsy |
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Clonus, Limb myoclonus, Focal clonic seizure, Focal tonic seizure, Status epilepticus, Focal auto... |
ORPHA:1949 |
Juvenile Myoclonic Epilepsy |
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Febrile seizure (within the age range of 3 months to 6 years), Morning myoclonic jerks, Status ep... |
ORPHA:307 |
Developmental And Epileptic Encephalopathy 34 |
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Focal hemiclonic seizure, Seizure, Status epilepticus, Bilateral tonic-clonic seizure with focal ... |
OMIM:616645 |
Female Restricted Epilepsy With Intellectual Disability |
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Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... |
ORPHA:101039 |
Parkinson Disease 11, Autosomal Dominant, Susceptibility To |
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Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Bradykinesia, Ri... |
OMIM:607688 |
Spinocerebellar Ataxia Type 28 |
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Dystonia, Babinski sign, Kinetic tremor, Rigidity, Spasticity, Head tremor, Parkinsonism, Limb at... |
ORPHA:101109 |
Polymicrogyria, Bilateral Perisylvian, X-Linked |
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Pseudobulbar paralysis, Atypical absence seizure, Bilateral tonic-clonic seizure |
OMIM:300388 |
Salt And Pepper Developmental Regression Syndrome |
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Multifocal epileptiform discharges, Status epilepticus, Myoclonus, Bilateral tonic-clonic seizure |
OMIM:609056 |
Dravet Syndrome |
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Photosensitive myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), ... |
ORPHA:33069 |
Brugada Syndrome 3 |
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Syncope, Shortened QT interval, Atrial fibrillation, Ventricular arrhythmia, J wave, Sudden cardi... |
OMIM:611875 |
Autosomal Recessive Spastic Paraplegia Type 69 |
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Agenesis of corpus callosum, Hand tremor, Spastic dysarthria, Lower limb spasticity, Hearing impa... |
ORPHA:401830 |
Parkinson Disease 22, Autosomal Dominant |
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Tremor, Gait disturbance, Resting tremor, Bradykinesia |
OMIM:616710 |
Long Qt Syndrome 12 |
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Syncope, Torsade de pointes, Prolonged QTc interval, Ventricular fibrillation |
OMIM:612955 |
Progressive Myoclonic Epilepsy Type 3 |
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Photosensitive myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), ... |
ORPHA:263516 |
Generalized Epilepsy With Febrile Seizures Plus, Type 1 |
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