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 |
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Gait imbalance, Akinesia, Axial dystonia, Blepharospasm, Parkinsonism with favorable response to ... |
ORPHA:240071 |
Atrial Septal Defect, Ostium Secundum Type |
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Supraventricular arrhythmia, Bundle branch block, Supraventricular tachycardia, Abnormal left ven... |
ORPHA:99103 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
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Torsade de pointes, Prolonged QTc interval, Ventricular tachycardia, Ventricular fibrillation, Se... |
OMIM:616878 |
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures |
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Status epilepticus, Focal impaired awareness seizure, Chorea, Bilateral tonic-clonic seizure, Spa... |
OMIM:613970 |
Myoclonus-Cerebellar Ataxia-Deafness Syndrome |
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Intention tremor, Myoclonus, Progressive cerebellar ataxia, Progressive gait ataxia |
ORPHA:2589 |
Attrv122I Amyloidosis |
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Angina pectoris, Atrial arrhythmia, Aortic valve stenosis, Restrictive cardiomyopathy, Arrhythmia... |
ORPHA:85451 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
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Motor stereotypy, Tremor, Ataxia, Seizure |
OMIM:617862 |
Infantile Cerebellar-Retinal Degeneration |
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Failure to thrive, Ataxia, Decreased body weight, Athetosis, Bilateral tonic-clonic seizure, Foca... |
OMIM:614559 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
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Atonic seizure, Tricuspid regurgitation, Premature ventricular contraction, Mitral regurgitation,... |
OMIM:620066 |
Diabetes Mellitus, Permanent Neonatal, 2 |
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Bilateral tonic-clonic seizure with focal onset, Bilateral tonic-clonic seizure, Myoclonic seizure |
OMIM:618856 |
Huntington Disease-Like 2 |
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Action tremor, Bradykinesia, Rigidity, Chorea, Weight loss, Dystonia |
OMIM:606438 |
Spinocerebellar Ataxia Type 31 |
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Tremor, Gait ataxia, Spasticity, Impaired vibratory sensation |
ORPHA:217012 |
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments |
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Apathy, Bradykinesia, Anxiety, Parkinsonism, Inappropriate behavior, Memory impairment, Falls, Mo... |
ORPHA:412066 |
Spinocerebellar Ataxia, Autosomal Recessive 23 |
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Arrhythmia, Seizure |
OMIM:616949 |
Familial Dyskinesia And Facial Myokymia |
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Resting tremor, Myoclonus, Limb hypertonia, Chorea, Difficulty walking, Dystonia |
ORPHA:324588 |
Developmental And Epileptic Encephalopathy 102 |
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Focal motor status epilepticus, Tonic seizure, Generalized myoclonic seizure, Bilateral tonic-clo... |
OMIM:619881 |
Succinic Semialdehyde Dehydrogenase Deficiency |
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Status epilepticus, Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Generalized no... |
OMIM:271980 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4 |
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Apnea, Seizure |
OMIM:615228 |
Ceroid Lipofuscinosis, Neuronal, 5 |
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Ataxia, Abnormal nervous system electrophysiology, Clumsiness, Dysmetria, Dysdiadochokinesis, Myo... |
OMIM:256731 |
Cardiomyopathy, Dilated, 1L |
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Reduced systolic function, Sudden cardiac death, Increased left ventricular end-diastolic volume,... |
OMIM:606685 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
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Supraventricular tachycardia, Dilated cardiomyopathy, Atrial fibrillation, Hypertrophic cardiomyo... |
OMIM:612158 |
Autism, Susceptibility To, X-Linked 2 |
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Motor stereotypy, EEG abnormality, Abnormal nonverbal communicative behavior, Lack of peer relati... |
OMIM:300495 |
Lipoyltransferase 1 Deficiency |
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Pulmonary arterial hypertension, Bradycardia |
OMIM:616299 |
Infantile Neuronal Ceroid Lipofuscinosis |
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