Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
sodium channel, voltage-gated, type I, alpha
Synonyms:
Nav1.1

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Scn1a mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases predicted to be associated to Scn1a by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Cardiac Conduction Defect
Arrhythmia, Syncope OMIM:115080
Long Qt Syndrome 2
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Prolonged QT interval,... OMIM:613688
Long Qt Syndrome 6
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Prolonged QT interval,... OMIM:613693
Epilepsy, Familial Temporal Lobe, 1
Focal sensory seizure with olfactory features, Focal sensory seizure with vestibular features, De... OMIM:600512
Long Qt Syndrome 1
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Ventricular fibrillati... OMIM:192500
Long Qt Syndrome 15
Polymorphic ventricular tachycardia, Ventricular bigeminy, Ventricular ectopy, Prolonged QTc inte... OMIM:616249
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Cardiac arrest, Premature ventricular contraction, Polymorphic ventricular tachycardia, Bidirecti... OMIM:614021
Brugada Syndrome
Supraventricular tachycardia, Trifascicular block, Paroxysmal ventricular tachycardia, Tachycardi... ORPHA:130
Long Qt Syndrome 14
Prolonged QTc interval, Prolonged QT interval, T-wave alternans, Ventricular fibrillation, Cardia... OMIM:616247
Epilepsy, Familial Temporal Lobe, 8
Focal impaired awareness seizure, Deja vu aura, Focal aware cognitive seizure with forced thinkin... OMIM:616461
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4
Bilateral tonic-clonic seizure, Generalized myoclonic seizure OMIM:611364
Epilepsy, Idiopathic Generalized, Susceptibility To, 3
Bilateral tonic-clonic seizure, Seizure OMIM:608762
Jervell And Lange-Nielsen Syndrome 1
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Prolonged QT interval OMIM:220400
Sinoatrial Node Dysfunction And Deafness
Bradycardia, Increased heart rate variability, Abnormal QRS complex, Syncope OMIM:614896
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Myoclonic seizure, Bradycardia OMIM:619521
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Prolonged QRS complex, Premature ventricular contraction, Right ventricular cardiomyopathy, Presy... OMIM:604400
Brugada Syndrome 1
Sudden cardiac death, Syncope, Supraventricular tachycardia with an accessory connection mediated... OMIM:601144
Epilepsy, Familial Temporal Lobe, 5
Visually-induced seizure, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Focal... OMIM:614417
Jervell And Lange-Nielsen Syndrome 2
Torsade de pointes, Premature ventricular contraction, Sudden cardiac death, Syncope, Prolonged Q... OMIM:612347
Epilepsy, Familial Adult Myoclonic, 5
Focal sensory seizure with visual features, Bilateral tonic-clonic seizure, Focal sensory seizure... OMIM:615400
Long Qt Syndrome 12
Torsade de pointes, Ventricular fibrillation, Syncope, Prolonged QTc interval OMIM:612955
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Cardiac arrest, Premature ventricular contraction, Polymorphic ventricular tachycardia, Syncope, ... OMIM:615441
Jervell And Lange-Nielsen Syndrome
Torsade de pointes, Arrhythmia, Prolonged QTc interval, Syncope, Ventricular fibrillation, Seizure ORPHA:90647
Epilepsy, Idiopathic Generalized, Susceptibility To, 11
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure on awakening, Generalized... OMIM:607628
Epilepsy, Idiopathic Generalized
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Generalized myoclonic se... OMIM:600669
Epilepsy, Myoclonic Juvenile
Status epilepticus, Morning myoclonic jerks, Bilateral tonic-clonic seizure, Generalized non-moto... OMIM:254770
Long Qt Syndrome 5
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Ventricular fibrillati... OMIM:613695
Cardiomyopathy, Dilated, 1E
Supraventricular tachycardia, Left bundle branch block, Premature atrial contractions, Premature ... OMIM:601154
Atrial Fibrillation, Familial, 9
Permanent atrial fibrillation, Palpitations, Prolonged QTc interval, Syncope, Paroxysmal atrial f... OMIM:613980
Epilepsy, Juvenile Absence, Susceptibility To, 1
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure on awakening, Generalized... OMIM:607631
Developmental And Epileptic Encephalopathy 9
Status epilepticus, Atonic seizure, Generalized myoclonic seizure, Bilateral tonic-clonic seizure... OMIM:300088
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Effort-induced polymorphic ventricular tachycardia, Bidirectional ventricular tachycardia, Atrial... OMIM:604772
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
T-wave inversion in the right precordial leads, Ventricular arrhythmia, Right ventricular cardiom... OMIM:602087
Developmental Delay, Impaired Speech, And Behavioral Abnormalities, With Or Without Seizures
Atonic seizure, Tonic seizure, Infantile spasms, Myoclonic seizure, Bilateral tonic-clonic seizure OMIM:619964
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4
Premature ventricular contraction, Sudden cardiac death, Syncope, Ventricular tachycardia, Ventri... OMIM:614916
Succinic Semialdehyde Dehydrogenase Deficiency
Status epilepticus, Bilateral tonic-clonic seizure, Generalized myoclonic seizure ORPHA:22
Epilepsy, Familial Temporal Lobe, 3
Focal impaired awareness seizure, Deja vu aura, Bilateral tonic-clonic seizure with focal onset OMIM:611630
Long Qt Syndrome 13
Torsade de pointes, Permanent atrial fibrillation, Palpitations, Pulmonary embolism, Syncope, Pro... OMIM:613485
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Left anterior fascicular block, Atrial arrhythmia, Premature ventricular contraction, Tachycardia... OMIM:616117
Epilepsy, Idiopathic Generalized, Susceptibility To, 14
Generalized myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bil... OMIM:616685
Intellectual Developmental Disorder, X-Linked 100
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:300923
Familial Progressive Cardiac Conduction Defect
Bundle branch block, Arrhythmia, Syncope, Heart block, Congestive heart failure ORPHA:871
Incessant Infant Ventricular Tachycardia
Bundle branch block, Wolff-Parkinson-White syndrome, Supraventricular tachycardia, Prolonged QRS ... ORPHA:45453
Long Qt Syndrome 9
Cardiac arrest, Abnormal U wave, Ventricular arrhythmia, Syncope, Sinus bradycardia, Prolonged QT... OMIM:611818
Long Qt Syndrome 8
Sudden cardiac death, Prolonged QTc interval, Syncope, Ventricular fibrillation, Sinus bradycardi... OMIM:618447
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Seizure, Bradycardia OMIM:611938
Generalized Epilepsy With Febrile Seizures Plus, Type 9
Atonic seizure, Focal impaired awareness seizure, Febrile seizure (within the age range of 3 mont... OMIM:616172
Generalized Epilepsy With Febrile Seizures Plus, Type 2
Atonic seizure, Focal hemiclonic seizure, Generalized myoclonic seizure, Generalized tonic seizur... OMIM:604403
Atrial Fibrillation, Familial, 3
Permanent atrial fibrillation, Sudden cardiac death, Prolonged QTc interval, Syncope, Atrial fibr... OMIM:607554
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
T-wave inversion in the right precordial leads, Ventricular arrhythmia, Right ventricular cardiom... OMIM:602086
Long Qt Syndrome 10
Sudden cardiac death, T-wave alternans, Atrial fibrillation, Prolonged QT interval, Atrioventricu... OMIM:611819
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Left bundle branch block, Premature ventricular contraction, Presyncope, Palpitations, Ventricula... OMIM:618920
Long Qt Syndrome 11
Syncope, Prolonged QTc interval OMIM:611820
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome
Torsade de pointes, Left ventricular noncompaction cardiomyopathy, Sudden cardiac death, Polymorp... OMIM:115000
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Bundle branch block, Arrhythmia ORPHA:1479
Brugada Syndrome 2
Sudden cardiac death, Syncope, Ventricular fibrillation, Right bundle branch block, Prolonged PR ... OMIM:611777
Generalized Epilepsy With Febrile Seizures Plus, Type 1
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:604233
Familial Short Qt Syndrome
Sudden cardiac death, Palpitations, Ventricular arrhythmia, Syncope, Ventricular fibrillation, At... ORPHA:51083
Long Qt Syndrome 3
Torsade de pointes, Ventricular flutter, Sudden cardiac death, Prolonged QTc interval, Syncope, V... OMIM:603830
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Myoclonus, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Eyel... OMIM:618357
Seizures, Benign Familial Neonatal, 2
Focal clonic seizure, Bilateral tonic-clonic seizure OMIM:121201
Intellectual Developmental Disorder With Cardiac Arrhythmia
Sick sinus syndrome, Arrhythmia, Seizure, Bradycardia OMIM:617173
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Epsilon wave, Premature ventricular contraction, Right ventricular cardiomyopathy, Palpitations, ... OMIM:610193
Generalized Epilepsy With Febrile Seizures Plus, Type 7
Atonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-cl... OMIM:613863
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Sudden cardiac death, Ventricular arrhythmia, Right ventricular cardiomyopathy OMIM:107970
Cardiomyopathy, Familial Hypertrophic, 10
Supraventricular tachycardia, Left bundle branch block, Palpitations, Sudden cardiac death, T-wav... OMIM:608758
Ventricular Fibrillation, Paroxysmal Familial, 1
Tachycardia, Ventricular fibrillation, Syncope OMIM:603829
Angelman syndrome (Type 2)
EEG abnormality, Truncal ataxia, Seizure DECIPHER:54
Angelman syndrome (Type 1)
EEG abnormality, Truncal ataxia, Seizure DECIPHER:4
Myoclonic Epilepsy, Hartung Type
Generalized myoclonic seizure OMIM:159600
Mental Retardation, X-Linked 89
Generalized myoclonic seizure OMIM:300848
Myoclonic Epilepsy, Progressive
Generalized myoclonic seizure OMIM:310370
Brugada Syndrome 9
Presyncope, Palpitations, ST segment elevation, Prolonged QT interval OMIM:616399
Cardiomyopathy, Familial Hypertrophic, 8
Restrictive cardiomyopathy, Sudden cardiac death, Palpitations, T-wave inversion, Ventricular fib... OMIM:608751
Generalized Epilepsy With Febrile Seizures Plus, Type 4
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:609800
Epilepsy, Nocturnal Frontal Lobe, 2
Status epilepticus, Bilateral tonic-clonic seizure OMIM:603204
Glycogen Storage Disease Xv
Ventricular arrhythmia, Right bundle branch block OMIM:613507
Supravalvular Aortic Stenosis
Supravalvular aortic stenosis, Arrhythmia ORPHA:3193
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Sudden cardiac death, Arrhythmia OMIM:212500
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:609446
Short Qt Syndrome 2
Sudden cardiac death, Syncope, Ventricular fibrillation, Atrial fibrillation, Shortened QT interv... OMIM:609621
Romano-Ward Syndrome
Torsade de pointes, Abnormal T-wave, Sudden cardiac death, Ventricular arrhythmia, Syncope, Prolo... ORPHA:101016
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
Brugada Syndrome 6
Cardiac arrest, Ventricular fibrillation, ST segment elevation OMIM:613119
Epilepsy, Idiopathic Generalized, Susceptibility To, 10
Generalized myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bil... OMIM:613060
Developmental And Epileptic Encephalopathy 104
Clonic seizure, Focal impaired awareness seizure, Tonic seizure, Epileptic spasm, Bilateral tonic... OMIM:619970
Perioral Myoclonia With Absences
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) se... ORPHA:139426
Cardiomyopathy, Familial Hypertrophic, 13
Angina pectoris, Left anterior fascicular block, ST segment depression, Concentric hypertrophic c... OMIM:613243
Febrile Seizures, Familial, 5
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:609255
Febrile Seizures, Familial, 6
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:609253
Febrile Seizures, Familial, 4
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:604352
Epilepsy, Idiopathic Generalized, Susceptibility To, 17
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:602477
Febrile Seizures, Familial, 1
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:121210
Epilepsy, Familial Adult Myoclonic, 1
EEG with photoparoxysmal response, Generalized myoclonic seizure, Jerk-locked premyoclonus spikes... OMIM:601068
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10
Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (absence) se... OMIM:617924
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Right ventricular cardiomyopathy, Sudden cardiac death, Palpitations, Ventricular arrhythmia, Syn... OMIM:610476
Developmental And Epileptic Encephalopathy 26
Atypical absence seizure, Atonic seizure, Focal impaired awareness seizure, Bilateral tonic-cloni... OMIM:616056
Developmental And Epileptic Encephalopathy 11
Status epilepticus, Bilateral tonic-clonic seizure OMIM:613721
Sick Sinus Syndrome 2
Torsade de pointes, Sudden cardiac death, Syncope, Atrial fibrillation, Prolonged QTc interval, A... OMIM:163800
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6
Sudden cardiac death, Premature ventricular contraction, Right ventricular cardiomyopathy OMIM:604401
His Bundle Tachycardia
Junctional ectopic tachycardia, Arrhythmia, Cardiomyopathy ORPHA:3283
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Focal motor seizure, Akinesia, Freezing of gait, Clumsiness, Bradykinesia, Resting tremor, Parkin... OMIM:619911
Epilepsy, Idiopathic Generalized, Susceptibility To, 7
Myoclonus, Bilateral tonic-clonic seizure OMIM:604827
Cardiomyopathy, Familial Hypertrophic, 11
Angina pectoris, Left anterior fascicular block, Left bundle branch block, Palpitations, Syncope,... OMIM:612098
Atrial Fibrillation, Familial, 18
Permanent atrial fibrillation, Palpitations, Third degree atrioventricular block, Bradycardia, Pa... OMIM:617280
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Premature ventricular contraction, Right ventricular cardiomyopathy, Sudden cardiac death, Ventri... OMIM:607450
Progressive Familial Heart Block, Type Ib
Left anterior fascicular block, Arrhythmia, Syncope, Shortened PR interval, Right bundle branch b... OMIM:604559
Developmental And Epileptic Encephalopathy 94
Status epilepticus, Atonic seizure, Tonic seizure, Generalized myoclonic seizure, Febrile seizure... OMIM:615369
Ventricular Fibrillation, Paroxysmal Familial, 2
Sudden cardiac death, Ventricular fibrillation, Premature ventricular contraction OMIM:612956
Cardiac Arrhythmia, Ankyrin-B-Related
Sudden cardiac death, Syncope, Atrial fibrillation, Sinus bradycardia, Prolonged QT interval OMIM:600919
Epilepsy, Photogenic, With Spastic Diplegia And Mental Retardation
Photosensitive tonic-clonic seizure OMIM:226800
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Left bundle branch block, Sudden cardiac death, Ventricular arrhythmia, Increased left ventricula... OMIM:601493
Brugada Syndrome 5
Bundle branch block, ST segment elevation, Ventricular fibrillation OMIM:612838
Seizures, Benign Familial Neonatal, Autosomal Recessive
Bilateral tonic-clonic seizure OMIM:269720
Juvenile Absence Epilepsy
Myoclonus, Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic ... ORPHA:1941
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Sick sinus syndrome, Arrhythmia, Bradycardia OMIM:617182
Centralopathic Epilepsy
Bilateral tonic-clonic seizure with focal onset, Nocturnal seizures, Focal-onset seizure OMIM:117100
Dravet Syndrome
Status epilepticus, Atonic seizure, Focal hemiclonic seizure, Focal impaired awareness seizure, G... OMIM:607208
Cardiomyopathy, Dilated, 2F
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Ventricular fibrillation... OMIM:619747
Ventricular Tachycardia, Familial
Sudden cardiac death, Cardiomyopathy, Paroxysmal ventricular tachycardia, Right bundle branch block OMIM:192605
Megalencephaly With Dysmyelination
EEG with photoparoxysmal response, Ataxia, Spasticity, Seizure OMIM:249240
Sick Sinus Syndrome 1
Ventricular escape rhythm, Sick sinus syndrome, Absent P wave, Sinus bradycardia, Prolonged QT in... OMIM:608567
Pachygyria With Mental Retardation, Seizures, And Arachnoid Cysts
Atypical absence seizure, Bilateral tonic-clonic seizure OMIM:600176
Epilepsy, Childhood Absence, Susceptibility To, 1
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:600131
Febrile Seizures, Familial, 8
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:607681
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Focal impaired awareness seizure, Generalized myoclonic seizure, Myoclonic seizure, Bilateral ton... OMIM:617831
Epilepsy, Familial Adult Myoclonic, 4
Myoclonus, Bilateral tonic-clonic seizure, Seizure OMIM:615127
Epilepsy, Familial Adult Myoclonic, 3
EEG with photoparoxysmal response, Jerk-locked premyoclonus spikes, Myoclonus, Giant somatosensor... OMIM:613608
Atypical Juvenile Parkinsonism
Akinesia, Inability to walk, Bradykinesia, Resting tremor, Myoclonus, Abnormal pyramidal sign, Ri... ORPHA:391411
Benign Familial Infantile Epilepsy
Status epilepticus, Focal motor seizure, Focal impaired awareness seizure, Generalized tonic seiz... ORPHA:306
Polymicrogyria, Bilateral Perisylvian, X-Linked
Atypical absence seizure, Bilateral tonic-clonic seizure OMIM:300388
Corticobasal Syndrome
Akinesia, Progressive extrapyramidal muscular rigidity, Bradykinesia, Myoclonus, Oromotor apraxia... ORPHA:454887
Nathalie Syndrome
Abnormal EKG OMIM:255990
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Prolonged QRS complex, Epsilon wave, Premature ventricular contraction, Right ventricular cardiom... OMIM:609040
Cardiomyopathy, Dilated, 1Bb
Left bundle branch block, Dilated cardiomyopathy, Increased left ventricular end-diastolic volume... OMIM:612877
Juvenile Myoclonic Epilepsy
Status epilepticus, Morning myoclonic jerks, Febrile seizure (within the age range of 3 months to... ORPHA:307
Developmental And Epileptic Encephalopathy 24
Status epilepticus, Clonic seizure, Myoclonic seizure, Febrile seizure (within the age range of 3... OMIM:615871
Cardiomyopathy, Dilated, 1U
Left bundle branch block, Increased left ventricular end-diastolic volume, Syncope, Dilated cardi... OMIM:613694
Tako-Tsubo Cardiomyopathy
Angina pectoris, Decreased QRS voltage, Low-output congestive heart failure, Prolonged QT interva... ORPHA:66529
Generalized Epilepsy With Febrile Seizures Plus, Type 10
Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (absence) se... OMIM:618482
Epilepsy, Idiopathic Generalized, Susceptibility To, 16
Atypical absence seizure, Myoclonic absence seizure, Myoclonic seizure OMIM:618596
Myoclonic Epilepsy, Familial Infantile
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:605021
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Torticollis, Ataxia, Hyperkinetic movements, Chorea, Tremor, Bilateral tonic-clonic seizure, Dyst... OMIM:618425
Long Qt Syndrome 16
T-wave alternans, Second degree atrioventricular block, Bradycardia, Prolonged QTc interval OMIM:618782
Developmental And Epileptic Encephalopathy 57
Atypical absence seizure, Generalized myoclonic seizure, Seizure OMIM:617771
Developmental Delay With Dysmorphic Facies And Dental Anomalies
Ataxia, EEG abnormality, Spasticity, Seizure OMIM:619228
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
Typical absence seizure, Atypical absence seizure, Morning myoclonic jerks, Generalized tonic sei... OMIM:607682
Muscular Dystrophy, Becker Type
Abnormal EKG, Arrhythmia, Cardiomyopathy OMIM:300376
Dyskinesia, Limb And Orofacial, Infantile-Onset
Hyperkinetic movements, Chorea, Frequent falls, Tremor, Hemiballismus, Unsteady gait, Seizure OMIM:616921
Progressive Familial Heart Block, Type Ia
Left anterior fascicular block, Left posterior fascicular block, Sudden cardiac death, Syncope, R... OMIM:113900
Cardiomyopathy, Dilated, 1V
Left bundle branch block, Increased left ventricular end-diastolic volume, Syncope, Dilated cardi... OMIM:613697
Cardiomyopathy, Dilated, 1P
Reduced systolic function, Dilated cardiomyopathy, Ventricular arrhythmia, Congestive heart failure OMIM:609909
Cardiomyopathy, Familial Hypertrophic, 6
Wolff-Parkinson-White syndrome, Prolonged QRS complex, Left bundle branch block, Atrioventricular... OMIM:600858
Spastic Ataxia With Congenital Miosis
Ataxia, Hemiplegia/hemiparesis, Spastic ataxia, Seizure ORPHA:1182
Cerebellar Atrophy, Developmental Delay, And Seizures
Bilateral tonic-clonic seizure with focal onset, Seizure OMIM:617643
Intellectual Developmental Disorder, X-Linked 41
Generalized non-motor (absence) seizure OMIM:300849
Intellectual Developmental Disorder, Autosomal Dominant 69
Bilateral tonic-clonic seizure OMIM:617863
Cardiomyopathy, Familial Hypertrophic, 14
Left ventricular outflow tract obstruction, Ventricular tachycardia, Right bundle branch block, H... OMIM:613251
Nathalie Syndrome
Arrhythmia ORPHA:2663
Cardiomyopathy, Familial Hypertrophic, 16
Left bundle branch block, Sudden cardiac death, Palpitations, Syncope, Ventricular tachycardia, A... OMIM:613838
Developmental And Epileptic Encephalopathy 19
Status epilepticus, Atonic seizure, Focal hemiclonic seizure, Focal impaired awareness seizure, M... OMIM:615744
Extrasystoles, Multiform Ventricular, With Short Stature, Hyperpigmentation And Microcephaly
Premature ventricular contraction OMIM:133750
Congenital Heart Defects, Multiple Types, 3
Atrioventricular dissociation, Tachycardia, Right bundle branch block, Atrial fibrillation, Atrio... OMIM:614954
Epilepsy, Childhood Absence, Susceptibility To, 5
Generalized non-motor (absence) seizure OMIM:612269
Neuropathy, Hereditary Sensory, Atypical
Ataxia, Babinski sign, Sensory ataxia OMIM:256860
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Palpitations, Arrhythmia, ST segment elevation, T-wave inversion, Ventricular tachycardia, Right ... ORPHA:263297
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Tachycardia, Premature ventricular contraction, Syncope OMIM:192445
Female Restricted Epilepsy With Intellectual Disability
Status epilepticus, Atypical absence seizure, Atonic seizure, Generalized myoclonic seizure, Gene... ORPHA:101039
Epilepsy, Familial Temporal Lobe, 2
Focal impaired awareness seizure, Focal aware seizure, Febrile status epilepticus, Febrile seizur... OMIM:608096
Epilepsy, Familial Temporal Lobe, 6
Status epilepticus, Focal impaired awareness seizure, Focal aware seizure, Bilateral tonic-clonic... OMIM:615697
Atrial Fibrillation, Familial, 7
Permanent atrial fibrillation, Premature atrial contractions, Palpitations, Prolonged QTc interva... OMIM:612240
Atrial Standstill
Ventricular escape rhythm, Abnormal P wave, Atrial standstill, Palpitations, Mobitz I atrioventri... ORPHA:1344
Developmental And Epileptic Encephalopathy 33
Typical absence seizure, Myoclonic seizure, Epileptic spasm, Bilateral tonic-clonic seizure, Seizure OMIM:616409
Segawa Syndrome, Autosomal Recessive
Hypokinesia, Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Parkinso... OMIM:605407
Developmental And Epileptic Encephalopathy 13
Clonic seizure, Focal hemiclonic seizure, Tonic seizure, Bilateral tonic-clonic seizure with foca... OMIM:614558
Febrile Seizures, Familial, 11
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo... OMIM:614418
Dentatorubral-Pallidoluysian Atrophy
Ataxia, Myoclonus, Parkinsonism, Chorea, Choreoathetosis, Seizure, Dystonia OMIM:125370
Idiopathic Neonatal Atrial Flutter
Supraventricular tachycardia, Abnormal left ventricular function, Arrhythmia, Abnormal QRS comple... ORPHA:45452
Linear Skin Defects With Multiple Congenital Anomalies 3
Dilated cardiomyopathy, Ventricular fibrillation, Ventricular tachycardia, Seizure, Cardiac arrest OMIM:300952
Autosomal Dominant Epilepsy With Auditory Features
Focal aware seizure, Bilateral tonic-clonic seizure with focal onset, Nocturnal seizures, Bilater... ORPHA:101046
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Prolonged QRS complex, Right ventricular cardiomyopathy, Ventricular arrhythmia, Syncope, T-wave ... OMIM:611528
Febrile Seizures, Familial, 9
Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (absence) se... OMIM:611634
Brugada Syndrome 3
J wave, Sudden cardiac death, Ventricular arrhythmia, Syncope, Atrial fibrillation, Shortened QT ... OMIM:611875
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome
Heart block, Premature ventricular contraction ORPHA:1964
Cortical Malformations, Occipital
Bilateral tonic-clonic seizure OMIM:614115
Unilateral Focal Polymicrogyria
EEG with frontal focal spikes, Focal motor seizure, EEG with parietal focal spikes, Poor fine mot... ORPHA:268947
Infantile Convulsions And Choreoathetosis
Focal impaired awareness seizure, Experiential epileptic aura, Chorea, Complex febrile seizure, A... ORPHA:31709
Epilepsy, Pyridoxine-Dependent
Status epilepticus, Bilateral tonic-clonic seizure, Clonic seizure, Generalized myoclonic seizure OMIM:266100
Paroxysmal Exertion-Induced Dyskinesia
Ataxia, Torsion dystonia, Chorea, Choreoathetosis, Involuntary movements, Generalized non-motor (... ORPHA:98811
Cardiomyopathy, Dilated, 1B
Impaired myocardial contractility, Dilated cardiomyopathy, Ventricular arrhythmia, Congestive hea... OMIM:600884
Leukoencephalopathy, Brain Calcifications, And Cysts
Hemiplegia, Ataxia, Abnormality of extrapyramidal motor function, Abnormal pyramidal sign, Gait d... OMIM:614561
Sick Sinus Syndrome 4
Abnormal QT interval, Abnormal QRS complex, Sinoatrial block, Syncope, Chronotropic incompetence,... OMIM:619464
Paroxysmal Kinesigenic Dyskinesia
Chorea, Athetosis, Writer's cramp, Involuntary movements, Seizure, Dystonia, Focal sensory seizure ORPHA:98809
Cardiomyopathy, Dilated, 1D
Sudden cardiac death, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, At... OMIM:601494
Seizures, Benign Familial Neonatal, 1
Focal clonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilateral to... OMIM:121200
Continuous Spikes And Waves During Sleep
Typical absence seizure, Atypical absence seizure, Focal motor seizure, Atonic seizure, Focal hem... ORPHA:725
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome
Bilateral tonic-clonic seizure, Generalized-onset seizure, Generalized non-motor (absence) seizure ORPHA:79137
Short Qt Syndrome 1
Cardiac arrest, Palpitations, Sudden cardiac death, Syncope, Paroxysmal atrial fibrillation, Shor... OMIM:609620
Myoclonic Epilepsy Of Unverricht And Lundborg
Myoclonus, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:254800
Epilepsy, Familial Temporal Lobe, 7
Focal sensory seizure with auditory features OMIM:616436
Behavioral Variant Of Frontotemporal Dementia
Motor stereotypy, Apathy, Upper motor neuron dysfunction, Mental deterioration, Abnormality of ex... ORPHA:275864
Kufor-Rakeb Syndrome
Torticollis, Paraparesis, Ataxia, Akinesia, Hypokinesia, Parkinsonism with favorable response to ... OMIM:606693
Sudden Cardiac Failure, Infantile
Sudden cardiac death, Myocarditis, Bradycardia, Seizure, Hypertrophic cardiomyopathy, Congestive ... OMIM:617222
Neurodevelopmental Disorder With Microcephaly, Ataxia, And Seizures
Slender build, Ataxia, Bilateral tonic-clonic seizure OMIM:617709
Bundle Branch Block, Familial Isolated Complete Right
Right bundle branch block OMIM:113950
Atrial Standstill 1
Premature atrial contractions, Ventricular escape rhythm, Atrial standstill, Atrial cardiomyopath... OMIM:108770
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)
Myoclonus, Bilateral tonic-clonic seizure, Myoclonic seizure, Seizure OMIM:162350
Developmental And Epileptic Encephalopathy 43
Atypical absence seizure, Atonic seizure, Infantile spasms, Myoclonic seizure, Bilateral tonic-cl... OMIM:617113
Epilepsy, Juvenile Myoclonic, Susceptibility To, 9
Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (absence) se... OMIM:614280
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Atypical absence seizure, Absence seizure with eyelid myoclonia, Atonic seizure, Focal impaired a... OMIM:618587
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Ataxia, EEG abnormality, Inability to walk, Spastic tetraplegia, Seizure OMIM:618174
Developmental And Epileptic Encephalopathy 97
Inability to walk, Epileptic spasm, Stereotypical hand wringing, Tremor, Hypsarrhythmia, Seizure OMIM:619561
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Morning myoclonic jerks, Bradycardia ORPHA:2898
Cardiomyopathy, Dilated, 2G
Multifocal atrial tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Mitral regurgitation... OMIM:619897
Familial Dilated Cardiomyopathy
Left bundle branch block, Mitral regurgitation, Palpitations, Elevated pulmonary artery pressure,... ORPHA:217607
Brugada Syndrome 8
ST segment elevation, Ventricular tachycardia, Right bundle branch block OMIM:613123
Wolff-Parkinson-White Syndrome
Wolff-Parkinson-White syndrome, Prolonged QRS complex, Ventricular preexcitation with multiple ac... OMIM:194200
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant
Bilateral tonic-clonic seizure, Focal impaired awareness seizure OMIM:610003
Autism, Susceptibility To, X-Linked 3
Motor stereotypy, EEG abnormality, Abnormal nonverbal communicative behavior, Lack of peer relati... OMIM:300496
Autism, Susceptibility To, X-Linked 1
Motor stereotypy, EEG abnormality, Abnormal nonverbal communicative behavior, Lack of peer relati... OMIM:300425
Autism
Motor stereotypy, EEG abnormality, Impaired ability to form peer relationships, Abnormal nonverba... OMIM:209850
Autism, Susceptibility To, 8
Motor stereotypy, EEG abnormality, Impaired ability to form peer relationships, Abnormal nonverba... OMIM:607373
Chromosome 15Q11-Q13 Duplication Syndrome
Motor stereotypy, EEG abnormality, Impaired ability to form peer relationships, Abnormal nonverba... OMIM:608636
Alternating Hemiplegia Of Childhood 1
Episodic quadriplegia, Episodic hemiplegia, Choreoathetosis, Bilateral tonic-clonic seizure, Dyst... OMIM:104290
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Inability to walk, Convulsive status epilepticus, Stereotypical hand wringing, Chorea, Focal-onse... OMIM:618760
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Prolonged QT interval, Arrhythmia, Seizure ORPHA:2151
Developmental And Epileptic Encephalopathy 37
Focal hemiclonic seizure, Myoclonus, Rigidity, Hyperkinetic movements, Chorea, Gait disturbance, ... OMIM:616981
Progressive Familial Heart Block, Type Ii
Sudden cardiac death, Syncope, Sinus bradycardia, Complete heart block with narrow QRS complexes,... OMIM:140400
Epilepsy, Progressive Myoclonic, 6
Atonic seizure, Myoclonus, Myoclonic status epilepticus, Bilateral tonic-clonic seizure, Generali... OMIM:614018
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Atonic seizure, Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset... OMIM:245570
Cardiomyopathy, Familial Hypertrophic, 26
Left anterior fascicular block, Permanent atrial fibrillation, Left bundle branch block, Mitral r... OMIM:617047
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Motor stereotypy, Ataxia, Focal motor status epilepticus, Poor coordination, Chorea, Falls, Focal... OMIM:619150
Seizures, Benign Familial Infantile, 1
Bilateral tonic-clonic seizure with focal onset, Generalized-onset seizure, Focal impaired awaren... OMIM:601764
Developmental And Epileptic Encephalopathy 30
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Seizure OMIM:616341
Lennox-Gastaut Syndrome
Atypical absence seizure, Atonic seizure, Generalized myoclonic seizure, Generalized tonic seizur... ORPHA:2382
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Atrial fibrillation, Arrhythmia, Bradycardia OMIM:614302
Atrial Septal Defect 6
Atrial fibrillation, Bradycardia OMIM:613087
Familial Alzheimer-Like Prion Disease
Cognitive impairment, Depression, Deficit in phonologic short-term memory, Anxiety, Attention def... ORPHA:280397
Atrial Septal Defect, Sinus Venosus Type
Supraventricular arrhythmia, Supraventricular tachycardia, Premature atrial contractions, Atrial ... ORPHA:99105
Huntington Disease-Like 2
Parkinsonism, Chorea, Gait disturbance, Involuntary movements, Weight loss, Dystonia ORPHA:98934
Myoclonic-Atonic Epilepsy
Eyelid myoclonus, Generalized non-motor (absence) seizure OMIM:616421
Paroxysmal Extreme Pain Disorder
Tachycardia, Bradycardia OMIM:167400
Chronic Atrial And Intestinal Dysrhythmia
Pulmonic stenosis, Mitral regurgitation, Sick sinus syndrome, Atrial flutter, Atrial fibrillation... OMIM:616201
Muscular Dystrophy, Cardiac Type
Abnormal EKG, Cardiomyopathy OMIM:309930
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions
Myoclonic status epilepticus, Bilateral tonic-clonic seizure with focal onset, Myoclonic seizure,... OMIM:611726
Heart-Hand Syndrome, Slovenian Type
Supraventricular arrhythmia, Arrhythmia, Abnormal atrioventricular conduction, Abnormal electroph... ORPHA:168796
Parkinson Disease 17
Akinesia, Bradykinesia, Resting tremor, Rigidity, Parkinsonism, Tremor OMIM:614203
Lissencephaly 10
Atypical absence seizure, Atonic seizure, Focal impaired awareness seizure, Tonic seizure, Bilate... OMIM:618873
Episodic Ataxia, Type 1
Babinski sign, Incoordination, Tremor, Spastic gait, Slurred speech, Episodic ataxia OMIM:160120
Optic Atrophy 2
Tremor, Dysdiadochokinesis, Babinski sign OMIM:311050
Atrial Fibrillation, Familial, 11
Atrial fibrillation, Prolonged QRS complex, Prolonged P wave OMIM:614049
Developmental And Epileptic Encephalopathy 27
Myoclonus, Infantile spasms, Epileptic spasm, Myoclonic seizure, Chorea, Bilateral tonic-clonic s... OMIM:616139
Spinocerebellar Ataxia 48
Ataxia, Dysmetria, Cachexia, Babinski sign, Parkinsonism, Chorea, Tremor, Bilateral tonic-clonic ... OMIM:618093
Dystonia 3, Torsion, X-Linked
Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Chorea, Tremor, Torsi... OMIM:314250
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Ataxia, Myoclonus, Chorea, Craniofacial dystonia, Gait disturbance, Involuntary movements, Spasti... OMIM:617282
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Focal hemifacial clonic seizure, Prolonged somatosensory evoked potentials, Myoclonus, Writer's c... OMIM:608105
Myoclonic Epilepsy Of Infancy
Generalized myoclonic seizure, Myoclonus, Febrile seizure (within the age range of 3 months to 6 ... ORPHA:86909
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy
Myoclonic seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Focal... OMIM:619157
Isolated Focal Cortical Dysplasia
Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset, Nocturnal seiz... ORPHA:65683
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Motor stereotypy, Inability to walk, EEG abnormality, Self-injurious behavior, Poor eye contact, ... OMIM:617820
Carnitine-Acylcarnitine Translocase Deficiency
Premature ventricular contraction, Hypotension, Ventricular tachycardia, Seizure, Cardiac arrest,... OMIM:212138
Epilepsy, Familial Focal, With Variable Foci 4
Clonic seizure, Focal impaired awareness seizure, Simple febrile seizure, Bilateral tonic-clonic ... OMIM:617935
Episodic Ataxia, Type 9
Status epilepticus, Clonic seizure, Tonic seizure, Bilateral tonic-clonic seizure, Seizure OMIM:618924
Epilepsy, Familial Temporal Lobe, 4
Focal sensory seizure with visual features, Focal impaired awareness seizure, Focal aware seizure OMIM:611631
Mitochondrial Complex I Deficiency, Nuclear Type 13
Apnea, Hypertrophic cardiomyopathy, Seizure OMIM:618235
Landau-Kleffner Syndrome
Focal impaired awareness seizure, Focal myoclonic seizure, Emotional lability, Slurred speech, At... ORPHA:98818
Atrioventricular Dissociation
Congenital atrioventricular dissociation OMIM:209600
Intellectual Developmental Disorder, Autosomal Dominant 5
Bilateral tonic-clonic seizure, Myoclonic absence seizure, Seizure OMIM:612621
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Left bundle branch block, Ventricular tachycardia, First degree atrioventricular block OMIM:615616
Alopecia-Mental Retardation Syndrome With Convulsions And Hypergonadotropic Hypogonadism
Bilateral tonic-clonic seizure, Seizure OMIM:601217
Epilepsy, Progressive Myoclonic, 8
Limb ataxia, Myoclonus, Action myoclonus, Truncal ataxia, Falls, Gait disturbance, Bilateral toni... OMIM:616230
Coenzyme Q10 Deficiency, Primary, 7
Hypertrophic cardiomyopathy, Seizure, Bradycardia OMIM:616276
Developmental And Epileptic Encephalopathy 67
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Seizure OMIM:618141
Progressive Myoclonic Epilepsy Type 1
Ataxia, Morning myoclonic jerks, Limb ataxia, EEG with polyspike wave complexes, Intention tremor... ORPHA:308
Guanidinoacetate Methyltransferase Deficiency
Ataxia, Atonic seizure, Focal impaired awareness seizure, Generalized myoclonic seizure, Chorea, ... ORPHA:382
Spinocerebellar Ataxia Type 27
Akinesia, Hand tremor, Limb ataxia, Truncal ataxia, Gait disturbance, Tremor, Difficulty walking,... ORPHA:98764
Developmental And Epileptic Encephalopathy 52
Atypical absence seizure, Focal hemiclonic seizure, Generalized myoclonic seizure, Febrile seizur... OMIM:617350
Striatonigral Degeneration, Infantile, Mitochondrial
Lingual dystonia, Myoclonus, Babinski sign, Motor tics, Chorea, Frequent falls, Difficulty walkin... OMIM:500003
Dystonia 31
Leg dystonia, Parkinsonism, Craniofacial dystonia, Writer's cramp, Difficulty walking, Abnormal p... OMIM:619565
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay
Bilateral tonic-clonic seizure OMIM:619639
Episodic Ataxia, Type 5
Typical absence seizure, Atypical absence seizure, Myoclonus, Febrile seizure (within the age ran... OMIM:613855
Seizures, Benign Familial Infantile, 3
Bilateral tonic-clonic seizure with focal onset, Focal impaired awareness seizure, Focal-onset se... OMIM:607745
Cardiomyopathy, Familial Hypertrophic, 3
Sudden cardiac death, Hypertrophic cardiomyopathy OMIM:115196
Developmental And Epileptic Encephalopathy 32
Tremor, Ataxia, Myoclonus, Seizure OMIM:616366
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2
Right bundle branch block OMIM:613158
Cataracts, Spastic Paraparesis, And Speech Delay
Focal motor seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Com... OMIM:619338
Cardiomyopathy, Familial Hypertrophic, 2
Angina pectoris, Atrial fibrillation, Hypertrophic cardiomyopathy, Right bundle branch block OMIM:115195
Intellectual Developmental Disorder, Autosomal Recessive 64
Hypertonia, Aggressive behavior, Spasticity, Seizure, Impaired social interactions, Slurred speech OMIM:618103
Developmental And Epileptic Encephalopathy 6B
Motor stereotypy, Ataxia, Inability to walk, Focal hemiclonic seizure, Tonic seizure, Myoclonus, ... OMIM:619317
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Ataxia, Myoclonus, Rigidity, Parkinsonism, Chorea, Tremor, Upper motor neuron dysfunction, Dystonia ORPHA:401901
Epilepsy, Progressive Myoclonic, 1B
Atonic seizure, Generalized myoclonic seizure, Dysmetria, Babinski sign, Tremor OMIM:612437
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Abnormal pyramidal sign, Spastic paraplegia, Choreoathetosis, Bilateral tonic-clonic seizure, Par... ORPHA:53583
Developmental And Epileptic Encephalopathy 34
Status epilepticus, Focal hemiclonic seizure, Bilateral tonic-clonic seizure with focal onset, Fo... OMIM:616645
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Tremor, Ataxia, Slurred speech OMIM:613227
Seizures, Benign Familial Infantile, 2
Generalized-onset seizure, Focal-onset seizure OMIM:605751
Intellectual Developmental Disorder, Autosomal Recessive 6
Myoclonus, Tremor, Involuntary movements, Seizure, Dystonia OMIM:611092
Cardiomyopathy, Dilated, 1Nn
Mitral regurgitation, Abnormal ST segment, Ventricular arrhythmia, Increased left ventricular end... OMIM:615916
Unilateral Hemispheric Polymicrogyria
Generalized myoclonic seizure, Infantile spasms, Bilateral tonic-clonic seizure, Focal-onset seiz... ORPHA:101071
Myopathy, Myofibrillar, 1
Restrictive cardiomyopathy, Third degree atrioventricular block, Dilated cardiomyopathy, Hypertro... OMIM:601419
Autism Spectrum Disorder-Epilepsy-Arthrogryposis Syndrome
Generalized non-motor (absence) seizure ORPHA:370943
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion
Seizure precipitated by febrile infection, Bilateral tonic-clonic seizure, Status epilepticus wit... ORPHA:363549
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type)
Myoclonus, Bilateral tonic-clonic seizure, Status epilepticus without prominent motor symptoms, F... OMIM:204300
Andersen-Tawil Syndrome
Torsade de pointes, Abnormal T-wave, Premature ventricular contraction, Polymorphic ventricular t... ORPHA:37553
Cardiomyopathy, Familial Hypertrophic 27
Cardiac arrest, Tricuspid regurgitation, Concentric hypertrophic cardiomyopathy, Mitral regurgita... OMIM:618052
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Action tremor, Bradykinesia, Babinski sign, Parkinsonism, Rigidity, Falls, Gait disturbance, Bila... OMIM:300423
Juvenile Huntington Disease
Broad-based gait, Ataxia, Progressive cerebellar ataxia, Bradykinesia, Myoclonus, Rigidity, Chore... ORPHA:248111
Naxos Disease
Prolonged QRS complex, Premature ventricular contraction, Right ventricular cardiomyopathy, Sudde... OMIM:601214
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Motor stereotypy, Clonic seizure, Inability to walk, Tonic seizure, Stereotypical hand wringing, ... OMIM:618917
Autosomal Dominant Cerebellar Ataxia
Paraparesis, Progressive cerebellar ataxia, Laryngeal dystonia, Abnormality of extrapyramidal mot... ORPHA:99
Atrial Fibrillation, Familial, 15
Atrial fibrillation, Supraventricular tachycardia, Atrial flutter, Sudden cardiac death OMIM:615770
Atrial Fibrillation, Familial, 4
Permanent atrial fibrillation, Premature atrial contractions, Palpitations, Atrial fibrillation, ... OMIM:611493
Pseudohypoparathyroidism Type 2
Prolonged QT interval, Myoclonic spasms, Hypocalcemic seizures ORPHA:94090
Epilepsy, Progressive Myoclonic 7
Tremor, Ataxia, Myoclonus, Seizure OMIM:616187
Cardiomyopathy, Familial Hypertrophic, 4
Left bundle branch block, Congestive heart failure, Sudden cardiac death, Syncope, Ventricular fi... OMIM:115197
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Ataxia, Spastic diplegia, Myoclonus, Babinski sign, Bilateral tonic-clonic seizure, Dystonia, Fai... OMIM:619065
Myoclonus, Familial, 1
Frequent falls, Ataxia, Falls, Myoclonus OMIM:614937
Intellectual Developmental Disorder With Seizures And Language Delay
Bilateral tonic-clonic seizure, Myoclonic seizure, Myoclonic absence seizure OMIM:619000
Developmental Delay And Seizures With Or Without Movement Abnormalities
Ataxia, EEG abnormality, Bradykinesia, Generalized myoclonic seizure, Rigidity, Tremor, Bilateral... OMIM:617836
Cardiomyopathy, Dilated, 1R
Restrictive cardiomyopathy, Ventricular arrhythmia, Increased left ventricular end-diastolic volu... OMIM:613424
Rolandic Epilepsy-Speech Dyspraxia Syndrome
Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, Seizure ORPHA:163721
Developmental And Epileptic Encephalopathy 56
Broad-based gait, Status epilepticus, Ataxia, Action tremor, EEG abnormality, Focal motor seizure... OMIM:617665
Generalized Epilepsy With Febrile Seizures-Plus
Status epilepticus, Atonic seizure, Focal impaired awareness seizure, Generalized myoclonic seizu... ORPHA:36387
Choreoathetosis, Familial Inverted
Progressive choreoathetosis, Abnormal pyramidal sign, Rigidity, Gait disturbance, Seizure OMIM:118750
Cardiomyopathy, Dilated, 1A
Sudden cardiac death, Ventricular arrhythmia, Third degree atrioventricular block, Dilated cardio... OMIM:115200
Pitt-Hopkins-Like Syndrome 1
Motor stereotypy, Ataxia, EEG abnormality, Hyperactivity, Progressive language deterioration, Gen... OMIM:610042
Childhood Disintegrative Disorder
Motor stereotypy, Social and occupational deterioration, Progressive language deterioration, Abno... ORPHA:168782
Spinocerebellar Ataxia Type 21
Akinesia, Progressive cerebellar ataxia, Rigidity, Tremor, Gait ataxia, Abnormality of extrapyram... ORPHA:98773
Catecholaminergic Polymorphic Ventricular Tachycardia
Sudden cardiac death, Ventricular tachycardia, Syncope ORPHA:3286
Developmental And Epileptic Encephalopathy 18
Generalized-onset seizure, Generalized non-motor (absence) seizure, Focal-onset seizure OMIM:615476
Jeavons Syndrome
EEG with focal spikes, EEG with photoparoxysmal response, Bilateral tonic-clonic seizure with gen... ORPHA:139431
Polymicrogyria, Bilateral Temporooccipital
Status epilepticus, Focal impaired awareness seizure, Seizure OMIM:612691
Ebstein Anomaly
Atrial standstill, Sudden cardiac death, Ventricular preexcitation, Right bundle branch block, At... OMIM:224700
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Chorea, Frequent falls, Tremor, Hemiballismus, Unsteady gait ORPHA:494526
Brugada Syndrome 4
Atrial fibrillation, Shortened QT interval, Syncope OMIM:611876
Developmental And Epileptic Encephalopathy 99
Status epilepticus, Focal hemiclonic seizure, Focal impaired awareness seizure, Tonic seizure, Ep... OMIM:619606
Intellectual Developmental Disorder, X-Linked 1
Bilateral tonic-clonic seizure, Atonic seizure, Seizure OMIM:309530
Short Qt Syndrome 3
Palpitations, Tachycardia, Shortened QT interval OMIM:609622
Epilepsy, Progressive Myoclonic, 11
Ataxia, Intention tremor, Myoclonus, Rigidity, Giant somatosensory evoked potentials, Seizure OMIM:618876
Autosomal Dominant Spastic Paraplegia Type 6
Impaired vibratory sensation, Babinski sign, Spastic paraplegia, Gait disturbance, Bilateral toni... ORPHA:100988
Familial Focal Epilepsy With Variable Foci
Focal impaired awareness seizure, Deja vu aura, Focal aware seizure, Nocturnal seizures, Infantil... ORPHA:98820
Brugada Syndrome 7
Permanent atrial fibrillation, Prolonged P wave, ST segment elevation, Atrial flutter, Paroxysmal... OMIM:613120
Epilepsy, Familial Adult Myoclonic, 7
Myoclonic tremor, Seizure OMIM:618075
3-Methylglutaconic Aciduria, Type V
Sudden cardiac death, Noncompaction cardiomyopathy, Dilated cardiomyopathy, Prolonged QT interval... OMIM:610198
Benign Adult Familial Myoclonic Epilepsy
EEG abnormality, Hand tremor, Myoclonus, Generalized-onset seizure, Focal-onset seizure ORPHA:86814
Episodic Ataxia With Slurred Speech
Tremor, Gait ataxia, Slurred speech ORPHA:401953
Timothy Syndrome
Prolonged QT interval, Seizure, Bradycardia OMIM:601005
Encephalopathy Due To Prosaposin Deficiency
Myoclonus, Bilateral tonic-clonic seizure ORPHA:139406
Mitochondrial Complex Iv Deficiency, Nuclear Type 17
Spastic tetraparesis, Ataxia, Seizure OMIM:619061
Hyperprolinemia, Type I
Motor stereotypy, Status epilepticus, Ataxia, EEG abnormality, Hyperactivity, Aggressive behavior... OMIM:239500
Postencephalitic Parkinsonism
Akinesia, Bradykinesia, Resting tremor, Tremor by anatomical site, Oculogyric crisis, Diminished ... ORPHA:97349
Basal Ganglia Calcification, Idiopathic, 1
Bradykinesia, Dysdiadochokinesis, Abnormal pyramidal sign, Parkinsonism, Rigidity, Chorea, Atheto... OMIM:213600
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
EEG abnormality, Hyperactivity, Seizure, Abnormal social behavior ORPHA:436151
Developmental And Epileptic Encephalopathy 101
Third degree atrioventricular block, Myoclonus, Seizure, Bradycardia OMIM:619814
Left Ventricular Noncompaction 1
Left ventricular noncompaction cardiomyopathy, Mitral regurgitation, Sudden cardiac death, Palpit... OMIM:604169
Cardiomyopathy, Familial Hypertrophic, 1
Asymmetric septal hypertrophy, Arrhythmia, Congestive heart failure OMIM:192600
Atrial Fibrillation, Familial, 10
Permanent atrial fibrillation, Tricuspid regurgitation, Atrial flutter, Paroxysmal atrial fibrill... OMIM:614022
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Inability to walk, Myoclonus, Oculogyric crisis, Hyperkinetic movements, Chorea, Spasticity, Seiz... OMIM:614254
Spinocerebellar Ataxia Type 12
Ataxia, Action tremor, Hypokinesia, Poor fine motor coordination, Bradykinesia, Intention tremor,... ORPHA:98762
Combined Oxidative Phosphorylation Deficiency 23
Arrhythmia, Cardiomyopathy, Seizure, Congestive heart failure OMIM:616198
Left Ventricular Noncompaction 8
Mitral regurgitation, Arrhythmia, Dilated cardiomyopathy, Left ventricular systolic dysfunction, ... OMIM:615373
Spinocerebellar Ataxia 21
Ataxia, Akinesia, Progressive cerebellar ataxia, Limb ataxia, Intention tremor, Abnormality of ex... OMIM:607454
Classic Glucose Transporter Type 1 Deficiency Syndrome
Status epilepticus, Hypertonia, Ataxia, Extrapyramidal dyskinesia, Myoclonus, Hemiparesis, Chorea... ORPHA:71277
Cardiomyopathy, Familial Hypertrophic, 7
Wolff-Parkinson-White syndrome, Atrial fibrillation, Hypertrophic cardiomyopathy, Apical hypertro... OMIM:613690
Congenital Left Ventricular Aneurysm
Abnormal ST segment, Abnormal T-wave, Arrhythmia, Congestive heart failure ORPHA:1055
Intellectual Developmental Disorder, Autosomal Dominant 46
Infantile spasms, Focal impaired awareness seizure, Tonic seizure, Seizure OMIM:617601
Paroxysmal Non-Kinesigenic Dyskinesia
Torticollis, Rigidity, Hyperkinetic movements, Chorea, Choreoathetosis, Involuntary movements, Pa... ORPHA:98810
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Arrhythmia, Sick sinus syndrome, Seizure, Prolonged PR interval, Brady... ORPHA:542306
Huntington Disease-Like 1
Hypokinesia, EEG abnormality, Clumsiness, Poor fine motor coordination, Dysmetria, Bradykinesia, ... ORPHA:157941
Glycogen Storage Disease 0, Muscle
Bilateral tonic-clonic seizure OMIM:611556
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Status epilepticus, Inability to walk, Focal impaired awareness seizure, Generalized myoclonic se... ORPHA:330050
Dystonia 23
Myoclonus, Arrhythmia OMIM:614860
Epilepsy, Familial Adult Myoclonic, 2
EEG with photoparoxysmal response, Ataxia, Blepharospasm, Jerk-locked premyoclonus spikes, EEG wi... OMIM:607876
Developmental And Epileptic Encephalopathy 45
Ataxia, Hypsarrhythmia, Seizure OMIM:617153
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Gait imbalance, Akinesia, Freezing of gait, Blepharospasm, Loss of ambulation, Falls, Spastic dys... ORPHA:240094
Cardiomyopathy, Familial Hypertrophic, 28
Apical hypertrophic cardiomyopathy, Left ventricular outflow tract obstruction, Concentric hypert... OMIM:619402
Spinocerebellar Ataxia 43
Ataxia, Limb ataxia, Rigidity, Distal sensory impairment, Tremor, Gait ataxia OMIM:617018
Ataxia With Myoclonic Epilepsy And Presenile Dementia
Ataxia, Generalized myoclonic seizure, Myoclonus, Seizure OMIM:208700
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Arrhythmia OMIM:618453
Yoon-Bellen Neurodevelopmental Syndrome
Status epilepticus, Failure to thrive, Ataxia, Inability to walk, Infantile spasms, Generalized m... OMIM:619701
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Generalized myoclonic seizure, Myoclonic spasms, Seizure, Multifocal seizures, Bradycardia OMIM:614498
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Ataxia, Decreased body weight, Abnormal pyramidal sign, Parkinsonism, Rigidity, Chorea, Spasticit... OMIM:617672
Coenzyme Q10 Deficiency, Primary, 5
Seizure, Bradycardia OMIM:614654
Epilepsy, Progressive Myoclonic, 12
Ataxia, Dysmetria, Myoclonus, Difficulty walking, Bilateral tonic-clonic seizure OMIM:619191
Basal Ganglia Calcification, Idiopathic, 6
Cognitive impairment, Depression, Parkinsonism, Memory impairment, Choreoathetosis, Involuntary m... OMIM:616413
Glycosylphosphatidylinositol Biosynthesis Defect 1
Atonic seizure, Generalized non-motor (absence) seizure OMIM:610293
Combined Oxidative Phosphorylation Deficiency 6
Hypokinesia, Involuntary movements, Generalized-onset seizure, Seizure, Tongue fasciculations, Te... OMIM:300816
Cardiomyopathy, Dilated, 1G
Premature atrial contractions, Dilated cardiomyopathy, Ventricular tachycardia, Atrial fibrillati... OMIM:604145
Developmental And Epileptic Encephalopathy 98
Clonic seizure, Bilateral tonic-clonic seizure with focal onset, Refractory status epilepticus, B... OMIM:619605
Methylmalonic Aciduria And Homocystinuria, Cblx Type
Athetosis, Failure to thrive, Chorea, Seizure OMIM:309541
Ceroid Lipofuscinosis, Neuronal, 11
Ataxia, EEG abnormality, Generalized myoclonic seizure, Seizure OMIM:614706
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Dilated cardiomyopathy, Bradycardia, Seizure, Hypertrophic cardiomyopathy OMIM:618815
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Typical absence seizure, Bilateral tonic-clonic seizure with generalized onset, Atonic seizure, G... ORPHA:2590
Migraine, Familial Hemiplegic, 1
Hemiplegia, Ataxia, Hemiparesis, Tremor, Seizure OMIM:141500
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Dilated cardiomyopathy, Right bundle branch block, Left ventricular systolic dysfunction ORPHA:206559
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14
Prolonged QT interval, Seizure OMIM:615351
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Muscular Dystrophy, Progressive Pectorodorsal
Arrhythmia OMIM:310095
Autosomal Recessive Frontotemporal Pachygyria
Bilateral tonic-clonic seizure, Seizure ORPHA:329329
Benign Familial Neonatal Epilepsy
Status epilepticus, Apnea, Generalized tonic seizure, Focal clonic seizure, Limb myoclonus, Simpl... ORPHA:1949
Progressive Supranuclear Palsy-Corticobasal Syndrome
Parkinsonism with favorable response to dopaminergic medication, Progressive extrapyramidal muscu... ORPHA:240103
Salt And Pepper Developmental Regression Syndrome
Status epilepticus, Failure to thrive, Myoclonus, Bilateral tonic-clonic seizure, Choreoathetosis OMIM:609056
Ceroid Lipofuscinosis, Neuronal, 8
Ataxia, EEG abnormality, Myoclonus, Seizure OMIM:600143
Creutzfeldt-Jakob Disease
Apathy, Extrapyramidal muscular rigidity, Depression, Myoclonus, Anxiety, Hemiparesis, Memory imp... OMIM:123400
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Pulmonic stenosis, Abnormal EKG OMIM:178650
Intellectual Developmental Disorder, Autosomal Recessive 66
Shyness, Gait ataxia, Attention deficit hyperactivity disorder, Aggressive behavior OMIM:618221
Glycosylphosphatidylinositol Biosynthesis Defect 15
Inability to walk, EEG abnormality, Atonic seizure, Dysmetria, Myoclonic seizure, Tremor, Gait at... OMIM:617810
X-Linked Intellectual Disability, Hedera Type
Atonic seizure, Action tremor, Inability to walk, Extrapyramidal muscular rigidity, Dysmetria, Ba... ORPHA:93952
Epilepsy, Early-Onset, Vitamin B6-Dependent
Apnea, Myoclonus, Respiratory insufficiency, Seizure OMIM:617290
Cardiomyopathy, Familial Hypertrophic, 25
Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy OMIM:607487
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Bilateral tonic-clonic seizure OMIM:301076
Loeffler Endocarditis
Aortic valve stenosis, Restrictive cardiomyopathy, Mitral regurgitation, Palpitations, Arrhythmia... ORPHA:75566
Symmetrical Thalamic Calcifications
Arrhythmia, Seizure ORPHA:1314
Late Infantile Neuronal Ceroid Lipofuscinosis
Typical absence seizure, Ataxia, Inability to walk, Mental deterioration, Spasticity, Hyperactivi... ORPHA:168491
Spinocerebellar Ataxia Type 37
Dysdiadochokinesis, Myoclonus, Truncal ataxia, Falls, Limb dysmetria, Tremor, Somatic sensory dys... ORPHA:363710
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Alternating Hemiplegia Of Childhood 2
Status epilepticus, Hemiplegia, Ataxia, Episodic quadriplegia, Choreoathetosis, Seizure, Dystonia... OMIM:614820
L-Ferritin Deficiency
Generalized-onset seizure OMIM:615604
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
EEG with focal spikes, Motor stereotypy, Cognitive impairment, Increased theta frequency activity... ORPHA:98784
Leber Hereditary Optic Neuropathy
Retinal telangiectasia, Ventricular preexcitation, Arrhythmia ORPHA:104
Hyperinsulinism-Hyperammonemia Syndrome
Generalized-onset seizure, Generalized non-motor (absence) seizure ORPHA:35878
X-Linked Intellectual Disability-Ataxia-Apraxia Syndrome
Apraxia, Ataxia, Seizure ORPHA:85338
Developmental And Epileptic Encephalopathy 92
Ataxia, EEG abnormality, Inability to walk, Myoclonus, Difficulty walking, Spasticity, Seizure, D... OMIM:617829
Atrial Fibrillation, Familial, 6
Atrial fibrillation, Elevated left ventricular end-diastolic diameter OMIM:612201
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Supraventricular tachycardia, Abnormal left ventricular function, Sudden cardiac death, Ventricul... ORPHA:300751
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Seizure ORPHA:208441
Episodic Kinesigenic Dyskinesia 2
Paroxysmal dyskinesia, Involuntary movements, Dystonia, Chorea OMIM:611031
Neurodevelopmental Disorder With Involuntary Movements
Hyperkinetic movements, Chorea, Athetosis, Involuntary movements, Spasticity, Seizure, Dystonia OMIM:617493
Arthrogryposis, Impaired Intellectual Development, And Seizures
Focal motor seizure, Generalized non-motor (absence) seizure OMIM:615553
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Motor stereotypy, Apathy, Myoclonus, Babinski sign, Rigidity, Inappropriate behavior, Memory impa... OMIM:600795
Episodic Kinesigenic Dyskinesia 1
Paroxysmal choreoathetosis, Paroxysmal dystonia, Seizure OMIM:128200
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Ataxia, Myoclonus, Babinski sign, Tremor, Seizure, Abnormality of extrapyramidal motor function OMIM:615362
Oxoglutarate Dehydrogenase Deficiency
Dysmetria, Rigidity, Falls, Bilateral tonic-clonic seizure, Gait ataxia, Unsteady gait, Dystonia OMIM:203740
Rare Non-Syndromic Intellectual Disability
Difficulty walking, Bilateral tonic-clonic seizure, Spasticity, Seizure, Dystonia ORPHA:101685
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Generalized myoclonic seizure, Dysmetria, Rigidity, Gait disturbance, Tremor, ... OMIM:618090
Lipoid Proteinosis Of Urbach And Wiethe
Generalized non-motor (absence) seizure, Seizure OMIM:247100
Neurodevelopmental Disorder With Hearing Loss And Spasticity
Infantile spasms, Myoclonic seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absen... OMIM:619616
Myofibrillar Myopathy 10
Increased QRS voltage, Prolonged QTc interval OMIM:619040
Spinocerebellar Ataxia 17
Broad-based gait, Ataxia, Bradykinesia, Limb ataxia, Dysmetria, Intention tremor, Myoclonus, Posi... OMIM:607136
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, And Cerebellar Atrophy
Bilateral tonic-clonic seizure OMIM:608278
3-Methylglutaconic Aciduria, Type Viii
Seizure, Bradycardia OMIM:617248
Adult Neuronal Ceroid Lipofuscinosis
Ataxia, Clumsiness, Myoclonus, Abnormal pyramidal sign, Tremor, Spasticity, Seizure, Abnormality ... ORPHA:79262
Developmental And Epileptic Encephalopathy 17
Athetosis, Dystonia, Chorea, Generalized tonic seizure OMIM:615473
Myopathy, Myosin Storage, Autosomal Recessive
Right axis deviation, Dilated cardiomyopathy, Elevated jugular venous pressure, Right bundle bran... OMIM:255160
Rolandic Epilepsy
Atypical absence seizure, Focal hemifacial clonic seizure, Bilateral tonic-clonic seizure with fo... ORPHA:1945
Bilateral Frontoparietal Polymicrogyria
Typical absence seizure, Bilateral tonic-clonic seizure with generalized onset, Atonic seizure, G... ORPHA:101070
Mercaptolactate-Cysteine Disulfiduria
Bilateral tonic-clonic seizure OMIM:249650
Basal Ganglia Calcification, Idiopathic, 5
Apathy, Cognitive impairment, Depression, Anxiety, Parkinsonism, Chorea, Athetosis, Motor tics, D... OMIM:615483
Spinocerebellar Ataxia Type 15/16
Ataxia, Action tremor, Tremor by anatomical site, Head tremor, Upper limb postural tremor, Gait a... ORPHA:98769
Dystonia With Ringbinden
Gait disturbance, Dystonia, Chorea OMIM:224550
Spinocerebellar Ataxia Type 23
Progressive cerebellar ataxia, Dysmetria, Limb ataxia, Babinski sign, Impaired distal vibration s... ORPHA:101108
Atypical Rett Syndrome
Inability to walk, Hand apraxia, Infantile spasms, Tongue thrusting, Tremor, Spasticity, Impaired... ORPHA:3095
Rasmussen Subacute Encephalitis
Inability to walk, Focal impaired awareness seizure, Emotional lability, Interictal epileptiform ... ORPHA:1929
Foxg1 Syndrome
Motor stereotypy, Status epilepticus, Inability to walk, Poor eye contact, Cognitive impairment, ... ORPHA:561854
Atrial Standstill 2
Atrial arrhythmia, Atrial standstill, Palpitations, Absent P wave, Atrial cardiomyopathy, Cardiom... OMIM:615745
Pick Disease Of Brain
Motor stereotypy, Apathy, Frontotemporal dementia, Emotional blunting, Disinhibition, Inappropria... OMIM:172700
Ceroid Lipofuscinosis, Neuronal, 2
Ataxia, Abnormal nervous system electrophysiology, Myoclonus, Seizure OMIM:204500
Developmental And Epileptic Encephalopathy 42
Hypertonia, Ataxia, EEG abnormality, Athetosis, Tremor, Seizure OMIM:617106
Alpers-Huttenlocher Syndrome
Paraparesis, Ataxia, Spastic paraparesis, Myoclonus, Progressive spasticity, Bilateral tonic-clon... ORPHA:726
Developmental And Epileptic Encephalopathy 38
Status epilepticus, Hypertonia, Ataxia, Dystonia OMIM:617020
Intellectual Developmental Disorder, Autosomal Recessive 44
Bilateral tonic-clonic seizure, Focal-onset seizure OMIM:615942
Atypical Pantothenate Kinase-Associated Neurodegeneration
Oromandibular dystonia, Clumsiness, Abnormal pyramidal sign, Parkinsonism, Rigidity, Chorea, Freq... ORPHA:216873
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Atrial arrhythmia, Sudden cardiac death, Palpitations, Absent P wave, Atrioventricular block, Fir... OMIM:310300
Intellectual Disability-Epilepsy-Extrapyramidal Syndrome
Gait imbalance, Broad-based gait, Status epilepticus, Clumsiness, Poor eye contact, Tip-toe gait,... ORPHA:468620
Late-Onset Distal Myopathy, Markesbery-Griggs Type
Heart block, Abnormal left ventricular function, Cardiomyopathy ORPHA:98912
Autosomal Recessive Non-Syndromic Intellectual Disability
Motor stereotypy, Impulsivity, Hyperactivity, EEG with focal epileptiform discharges, Depression,... ORPHA:88616
Cerebral Creatine Deficiency Syndrome 2
Paraparesis, Hypertonia, Ataxia, Atonic seizure, Myoclonus, Rigidity, Progressive extrapyramidal ... OMIM:612736
Spinocerebellar Ataxia, Autosomal Recessive 4
Ataxia, Myoclonus, Babinski sign, Frequent falls, Tremor, Gait ataxia, Spasticity, Fasciculations... OMIM:607317
Neurodevelopmental Disorder With Severe Motor Impairment And Absent Language
Ataxia, Inability to walk, Chorea, Involuntary movements, Seizure, Dystonia OMIM:617804
Pulmonary Hypertension, Primary, 4
Elevated pulmonary artery pressure, Pulmonary arterial hypertension with lack of acute response t... OMIM:615344
Myotonic Dystrophy 2
Palpitations, Tachycardia, Premature ventricular contraction, Right bundle branch block OMIM:602668
Benign Occipital Epilepsy
Focal impaired awareness seizure ORPHA:25968
Autoimmune Hypoparathyroidism
Abnormal left ventricular function, Ventricular arrhythmia, Myoclonic spasms, Prolonged QT interv... ORPHA:36913
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Ataxia, Akinesia, Resting tremor, Intention tremor, Dysdiadochokinesis, Babinski sign, Parkinsoni... ORPHA:247234
Epilepsy, Nocturnal Frontal Lobe, 1
Seizure, Focal-onset seizure OMIM:600513
Spinocerebellar Ataxia 37
Frequent falls, Tremor, Ataxia, Unsteady gait OMIM:615945
Cardiomyopathy, Dilated, 1Dd
Sudden cardiac death, Dilated cardiomyopathy, Congestive heart failure, Left ventricular systolic... OMIM:613172
Spinocerebellar Ataxia 20
Action tremor, Limb ataxia, Abnormal pyramidal sign, Gait ataxia, Postural tremor OMIM:608687
Cardiomyopathy, Familial Hypertrophic, 12
Sudden cardiac death, Paroxysmal atrial fibrillation, Ventricular tachycardia, Hypertrophic cardi... OMIM:612124
Cardiomyopathy, Familial Hypertrophic, 18
Atrial fibrillation, Paroxysmal atrial fibrillation, Hypertrophic cardiomyopathy OMIM:613874
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Generalized non-motor (absence)... OMIM:619854
Phosphoserine Aminotransferase Deficiency
Apnea, Myoclonus, Seizure OMIM:610992
Classic Progressive Supranuclear Palsy Syndrome
Gait imbalance, Akinesia, Axial dystonia, Blepharospasm, Parkinsonism with favorable response to ... ORPHA:240071
Atrial Septal Defect, Ostium Secundum Type
Supraventricular arrhythmia, Bundle branch block, Supraventricular tachycardia, Abnormal left ven... ORPHA:99103
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Torsade de pointes, Prolonged QTc interval, Ventricular tachycardia, Ventricular fibrillation, Se... OMIM:616878
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures
Status epilepticus, Focal impaired awareness seizure, Chorea, Bilateral tonic-clonic seizure, Spa... OMIM:613970
Myoclonus-Cerebellar Ataxia-Deafness Syndrome
Intention tremor, Myoclonus, Progressive cerebellar ataxia, Progressive gait ataxia ORPHA:2589
Attrv122I Amyloidosis
Angina pectoris, Atrial arrhythmia, Aortic valve stenosis, Restrictive cardiomyopathy, Arrhythmia... ORPHA:85451
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Motor stereotypy, Tremor, Ataxia, Seizure OMIM:617862
Infantile Cerebellar-Retinal Degeneration
Failure to thrive, Ataxia, Decreased body weight, Athetosis, Bilateral tonic-clonic seizure, Foca... OMIM:614559
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Atonic seizure, Tricuspid regurgitation, Premature ventricular contraction, Mitral regurgitation,... OMIM:620066
Diabetes Mellitus, Permanent Neonatal, 2
Bilateral tonic-clonic seizure with focal onset, Bilateral tonic-clonic seizure, Myoclonic seizure OMIM:618856
Huntington Disease-Like 2
Action tremor, Bradykinesia, Rigidity, Chorea, Weight loss, Dystonia OMIM:606438
Spinocerebellar Ataxia Type 31
Tremor, Gait ataxia, Spasticity, Impaired vibratory sensation ORPHA:217012
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Apathy, Bradykinesia, Anxiety, Parkinsonism, Inappropriate behavior, Memory impairment, Falls, Mo... ORPHA:412066
Spinocerebellar Ataxia, Autosomal Recessive 23
Arrhythmia, Seizure OMIM:616949
Familial Dyskinesia And Facial Myokymia
Resting tremor, Myoclonus, Limb hypertonia, Chorea, Difficulty walking, Dystonia ORPHA:324588
Developmental And Epileptic Encephalopathy 102
Focal motor status epilepticus, Tonic seizure, Generalized myoclonic seizure, Bilateral tonic-clo... OMIM:619881
Succinic Semialdehyde Dehydrogenase Deficiency
Status epilepticus, Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Generalized no... OMIM:271980
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4
Apnea, Seizure OMIM:615228
Ceroid Lipofuscinosis, Neuronal, 5
Ataxia, Abnormal nervous system electrophysiology, Clumsiness, Dysmetria, Dysdiadochokinesis, Myo... OMIM:256731
Cardiomyopathy, Dilated, 1L
Reduced systolic function, Sudden cardiac death, Increased left ventricular end-diastolic volume,... OMIM:606685
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Supraventricular tachycardia, Dilated cardiomyopathy, Atrial fibrillation, Hypertrophic cardiomyo... OMIM:612158
Autism, Susceptibility To, X-Linked 2
Motor stereotypy, EEG abnormality, Abnormal nonverbal communicative behavior, Lack of peer relati... OMIM:300495
Lipoyltransferase 1 Deficiency
Pulmonary arterial hypertension, Bradycardia OMIM:616299
Infantile Neuronal Ceroid Lipofuscinosis