Epilepsy, Familial Temporal Lobe, 1 |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal autonomic ... |
OMIM:600512 |
Developmental And Epileptic Encephalopathy 104 |
|
Epileptic spasm, Hyperactivity, Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Se... |
OMIM:619970 |
Developmental And Epileptic Encephalopathy 9 |
|
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure, Aggressive... |
OMIM:300088 |
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development |
|
Short stature, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, S... |
OMIM:245570 |
Epilepsy, Nocturnal Frontal Lobe, 2 |
|
Bilateral tonic-clonic seizure, Aggressive behavior, Status epilepticus |
OMIM:603204 |
Intellectual Developmental Disorder, Autosomal Dominant 69 |
|
Bilateral tonic-clonic seizure, Attention deficit hyperactivity disorder, Intention tremor |
OMIM:617863 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities, With Or Without Seizures |
|
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Myoclonic seizure, Atonic seizure |
OMIM:619964 |
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay |
|
Attention deficit hyperactivity disorder, Short stature, Aggressive behavior, Bilateral tonic-clo... |
OMIM:619639 |
Female Restricted Epilepsy With Intellectual Disability |
|
Hyperactivity, Bilateral tonic-clonic seizure, Impulsivity, Generalized clonic seizure, Aggressiv... |
ORPHA:101039 |
Neurodevelopmental Disorder With Microcephaly, Ataxia, And Seizures |
|
Bilateral tonic-clonic seizure, Slender build, Aggressive behavior |
OMIM:617709 |
Epilepsy, Familial Temporal Lobe, 5 |
|
Visually-induced seizure, Bilateral tonic-clonic seizure, Focal aware seizure, Focal impaired awa... |
OMIM:614417 |
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures |
|
Bilateral tonic-clonic seizure, Aggressive behavior, Agitation, Status epilepticus, Abnormal repe... |
OMIM:617171 |
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp |
|
Paroxysmal dystonia, Focal hemifacial clonic seizure, Bilateral tonic-clonic seizure, Writer's cr... |
OMIM:608105 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 15 |
|
Bilateral tonic-clonic seizure, Aggressive behavior, Generalized non-motor (absence) seizure, Eye... |
OMIM:618357 |
Developmental And Epileptic Encephalopathy 26 |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Infantile spasms... |
OMIM:616056 |
Continuous Spikes And Waves During Sleep |
|
Dystonia, Bilateral tonic-clonic seizure, Aggressive behavior, Focal hemiclonic seizure, Focal-on... |
ORPHA:725 |
Epilepsy, Familial Adult Myoclonic, 5 |
|
Bilateral tonic-clonic seizure, Tremor, Focal sensory seizure with visual features, Focal impaire... |
OMIM:615400 |
Developmental And Epileptic Encephalopathy 15 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure, Focal clonic s... |
OMIM:615006 |
Epilepsy, Familial Temporal Lobe, 8 |
|
Bilateral tonic-clonic seizure with focal onset, Focal aware autonomic seizure with epigastric se... |
OMIM:616461 |
Epilepsy, Familial Adult Myoclonic, 4 |
|
Tremor, Seizure, Bilateral tonic-clonic seizure, Myoclonus |
OMIM:615127 |
Developmental And Epileptic Encephalopathy 43 |
|
Hyperactivity, Bilateral tonic-clonic seizure, Infantile spasms, Impulsivity, Myoclonic seizure, ... |
OMIM:617113 |
Developmental And Epileptic Encephalopathy 53 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure, Seizure, Convu... |
OMIM:617389 |
Polymicrogyria, Bilateral Temporooccipital |
|
Status epilepticus, Bilateral tonic-clonic seizure with focal onset, Aggressive behavior, Focal i... |
OMIM:612691 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 3 |
|
Seizure, Bilateral tonic-clonic seizure |
OMIM:608762 |
Succinic Semialdehyde Dehydrogenase Deficiency |
|
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Status epilepticus |
ORPHA:22 |
Developmental And Epileptic Encephalopathy 74 |
|
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Typical absence seizure, Myoclon... |
OMIM:618396 |
Developmental And Epileptic Encephalopathy 31A |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Atypical absence status epileptic... |
OMIM:616346 |
Isolated Focal Cortical Dysplasia |
|
Epileptic spasm, Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Infa... |
ORPHA:65683 |
Phosphoserine Phosphatase Deficiency |
|
Postnatal growth retardation, Intrauterine growth retardation, Seizure |
OMIM:614023 |
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4 |
|
Generalized myoclonic seizure, Bilateral tonic-clonic seizure |
OMIM:611364 |
Epilepsy, Progressive Myoclonic 7 |
|
Tremor, Bilateral tonic-clonic seizure, Myoclonus, Myoclonic seizure |
OMIM:616187 |
Chromosome 15Q11-Q13 Duplication Syndrome |
|
Restrictive behavior, Bilateral tonic-clonic seizure, Seizure, Abnormal repetitive mannerisms, In... |
OMIM:608636 |
Autosomal Dominant Epilepsy With Auditory Features |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo... |
ORPHA:101046 |
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy |
|
Bilateral tonic-clonic seizure, Aggressive behavior, Focal-onset seizure, Generalized non-motor (... |
OMIM:619157 |
Lennox-Gastaut Syndrome |
|
Hyperactivity, Bilateral tonic-clonic seizure, Aggressive behavior, Focal-onset seizure, Myoclonu... |
ORPHA:2382 |
Guanidinoacetate Methyltransferase Deficiency |
|
Hyperactivity, Bilateral tonic-clonic seizure, Aggressive behavior, Seizure, Athetosis, Self-inju... |
ORPHA:382 |
Epilepsy, Familial Adult Myoclonic, 1 |
|
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Tremor |
OMIM:601068 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Short stature, Bilateral tonic-clonic seizure, Hand tremor, Dysphagia, Recurrent hand flapping, A... |
OMIM:617862 |
Developmental And Epileptic Encephalopathy 67 |
|
Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Generalized non-motor (a... |
OMIM:618141 |
Developmental And Epileptic Encephalopathy 33 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Aggressive behavior, Typical absence seizure, My... |
OMIM:616409 |
Episodic Ataxia, Type 9 |
|
Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Seizure, Status epilepticus, Dystonia |
OMIM:618924 |
Stxbp1-Related Encephalopathy |
|
Epileptic spasm, Hyperactivity, Bilateral tonic-clonic seizure with focal onset, Infantile spasms... |
ORPHA:599373 |
Developmental And Epileptic Encephalopathy 109 |
|
Hyperactivity, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Typical a... |
OMIM:620145 |
Dravet Syndrome |
|
Bilateral tonic-clonic seizure, Generalized clonic seizure, Focal hemiclonic seizure, Visually-in... |
OMIM:607208 |
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures |
|
Bilateral tonic-clonic seizure, Tremor, Generalized non-motor (absence) seizure, Myoclonic seizur... |
OMIM:617831 |
Lissencephaly 10 |
|
Torticollis, Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic se... |
OMIM:618873 |
Seizures, Benign Familial Neonatal, 2 |
|
Focal clonic seizure, Bilateral tonic-clonic seizure |
OMIM:121201 |
Developmental And Epileptic Encephalopathy 24 |
|
Bilateral tonic-clonic seizure, Focal-onset seizure, Clonic seizure, Generalized non-motor (absen... |
OMIM:615871 |
Benign Familial Infantile Epilepsy |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Simple febrile s... |
ORPHA:306 |
Congenital Disorder Of Glycosylation, Type Iaa |
|
Bilateral tonic-clonic seizure, Pseudobulbar paralysis, Status epilepticus, Intrauterine growth r... |
OMIM:617082 |
Developmental And Epileptic Encephalopathy 11 |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Status epilepticus |
OMIM:613721 |
Generalized Epilepsy With Febrile Seizures Plus, Type 2 |
|
Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Focal-onset seizure, Generalized non-mo... |
OMIM:604403 |
Seizures, Benign Familial Infantile, 2 |
|
Bilateral tonic-clonic seizure, Focal impaired awareness seizure |
OMIM:605751 |
Developmental And Epileptic Encephalopathy 13 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset,... |
OMIM:614558 |
Seizures, Benign Familial Infantile, 5 |
|
Bilateral tonic-clonic seizure, Focal impaired awareness seizure |
OMIM:617080 |
Epilepsy, Familial Temporal Lobe, 3 |
|
Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset, Deja vu aura |
OMIM:611630 |
Epilepsy, Familial Adult Myoclonic, 3 |
|
Tremor, Focal-onset seizure, Bilateral tonic-clonic seizure, Myoclonus |
OMIM:613608 |
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant |
|
Restlessness, Bilateral tonic-clonic seizure, Focal impaired awareness seizure |
OMIM:610003 |
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Bilateral tonic-clonic seizure, Oculogyric crisis, Tremor, Focal-onset seizure, Seizure, Status e... |
ORPHA:330050 |
Developmental And Epileptic Encephalopathy 94 |
|
Bilateral tonic-clonic seizure, Tonic seizure, Visually-induced seizure, Generalized non-motor (a... |
OMIM:615369 |
Developmental And Epileptic Encephalopathy 27 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Infantile spasms, Myoclonic seizure, Seizure, My... |
OMIM:616139 |
Developmental And Epileptic Encephalopathy 59 |
|
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Self-injurious behavior, Focal c... |
OMIM:617904 |
Developmental And Epileptic Encephalopathy 12 |
|
Focal-onset seizure, Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure |
OMIM:613722 |
Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Bilateral tonic-clonic seizure, Aggressive behavior, Abnormal fear-induced behavior, Seizure, Pse... |
ORPHA:208441 |
Developmental And Epileptic Encephalopathy 98 |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Clonic seizure, ... |
OMIM:619605 |
Intellectual Developmental Disorder, Autosomal Recessive 34, With Variant Lissencephaly |
|
Seizure, Bilateral tonic-clonic seizure |
OMIM:614499 |
Bilateral Generalized Polymicrogyria |
|
Generalized-onset seizure, Short stature, Bilateral tonic-clonic seizure, Infantile spasms, Oculo... |
ORPHA:208447 |
Developmental And Epileptic Encephalopathy 30 |
|
Generalized myoclonic seizure, Seizure, Abnormal repetitive mannerisms, Bilateral tonic-clonic se... |
OMIM:616341 |
Developmental And Epileptic Encephalopathy 54 |
|
Bilateral tonic-clonic seizure, Tonic seizure, Seizure, Myoclonus, Atypical absence seizure, Aton... |
OMIM:617391 |
Alternating Hemiplegia Of Childhood 1 |
|
Choreoathetosis, Bilateral tonic-clonic seizure, Dystonia |
OMIM:104290 |
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent |
|
Generalized myoclonic seizure, Clonic seizure, Bilateral tonic-clonic seizure, Status epilepticus |
OMIM:266100 |
Generalized Epilepsy With Febrile Seizures Plus, Type 9 |
|
Bilateral tonic-clonic seizure, Tonic seizure, Generalized non-motor (absence) seizure, Focal imp... |
OMIM:616172 |
Intellectual Developmental Disorder, X-Linked 1 |
|
Seizure, Bilateral tonic-clonic seizure, Atonic seizure, Aggressive behavior |
OMIM:309530 |
Epilepsy, Myoclonic Juvenile |
|
Morning myoclonic jerks, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure,... |
OMIM:254770 |
Generalized Epilepsy With Febrile Seizures-Plus |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Tremor, Focal-onset seizure, Generaliz... |
ORPHA:36387 |
Polymicrogyria, Bilateral Perisylvian, X-Linked |
|
Pseudobulbar paralysis, Bilateral tonic-clonic seizure, Atypical absence seizure |
OMIM:300388 |
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Bruxism, Myoclonic seizure, Chore... |
OMIM:618497 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 21 |
|
Short stature, Failure to thrive in infancy, Bilateral tonic-clonic seizure, Myoclonus, Dystonia |
OMIM:619065 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 7 |
|
Bilateral tonic-clonic seizure, Myoclonus |
OMIM:604827 |
Landau-Kleffner Syndrome |
|
Hyperactivity, Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seiz... |
ORPHA:98818 |
Myoclonic Epilepsy Of Infancy |
|
Bilateral tonic-clonic seizure, Photosensitive tonic-clonic seizure, Aggressive behavior, General... |
ORPHA:86909 |
Foxg1 Syndrome |
|
Short stature, Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Bruxism, Ch... |
ORPHA:561854 |
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Absence seizure with eyelid myoclonia, Bilateral tonic-clonic seizure, Tremor, Generalized myoclo... |
OMIM:618587 |
Centralopathic Epilepsy |
|
Focal-onset seizure, Bilateral tonic-clonic seizure with focal onset, Nocturnal seizures |
OMIM:117100 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 12 |
|
Bilateral tonic-clonic seizure |
OMIM:614847 |
Seizures, Benign Familial Neonatal, 3 |
|
Bilateral tonic-clonic seizure |
OMIM:608217 |
Epilepsy, Familial Focal, With Variable Foci 4 |
|
Bilateral tonic-clonic seizure, Simple febrile seizure, Focal-onset seizure, Clonic seizure, Foca... |
OMIM:617935 |
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 |
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 |
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type) |
|
Seizure, Bilateral tonic-clonic seizure, Myoclonus, Myoclonic seizure |
OMIM:162350 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 14 |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Generalized myo... |
OMIM:616685 |
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Tremor, Torticollis, Bilateral tonic-clonic seizure, Dystonia |
OMIM:618425 |
Cortical Malformations, Occipital |
|
Focal impaired awareness automatism seizure, Bilateral tonic-clonic seizure |
OMIM:614115 |
Epilepsy, Progressive Myoclonic, 6 |
|
Bilateral tonic-clonic seizure, Tremor, Generalized non-motor (absence) seizure, Myoclonus, Myocl... |
OMIM:614018 |
Encephalopathy Due To Prosaposin Deficiency |
|
Bilateral tonic-clonic seizure, Myoclonus, Dystonia |
ORPHA:139406 |
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Bilateral tonic-clonic seizure, Tonic seizure, Focal-onset seizure, Clonic seizure, Self-injuriou... |
OMIM:618917 |
Developmental And Epileptic Encephalopathy 42 |
|
Bilateral tonic-clonic seizure, Tonic seizure, Tremor, Focal tonic seizure, Myoclonic seizure, At... |
OMIM:617106 |
Generalized Epilepsy With Febrile Seizures Plus, Type 7 |
|
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Feb... |
OMIM:613863 |
Salt And Pepper Developmental Regression Syndrome |
|
Bilateral tonic-clonic seizure, Choreoathetosis, Status epilepticus, Myoclonus, Failure to thrive |
OMIM:609056 |
Developmental And Epileptic Encephalopathy 6B |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Focal-o... |
OMIM:619317 |
Perioral Myoclonia With Absences |
|
Bilateral tonic-clonic seizure, Focal seizure with eyelid myoclonia, Generalized non-motor (absen... |
ORPHA:139426 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 9 |
|
Bilateral tonic-clonic seizure, Typical absence seizure, Generalized non-motor (absence) seizure,... |
OMIM:607682 |
Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Bilateral tonic-clonic seizure, Dystonia, Neonatal death, Intrauterine growth retardation, Failur... |
OMIM:618237 |
Epilepsy, Idiopathic Generalized |
|
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) se... |
OMIM:600669 |
Epilepsy, Progressive Myoclonic, 9 |
|
Bilateral tonic-clonic seizure, Status epilepticus, Myoclonus, Generalized myoclonic seizure, Act... |
OMIM:616540 |
Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Short stature, Bilateral tonic-clonic seizure, Tremor, Dystonia, Generalized myoclonic seizure, M... |
OMIM:617836 |
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
|
Hyperactivity, Generalized-onset seizure, Bilateral tonic-clonic seizure, Impulsivity, Aggressive... |
OMIM:604317 |
Cerebellar Atrophy, Developmental Delay, And Seizures |
|
Bilateral tonic-clonic seizure with focal onset, Myoclonic seizure |
OMIM:617643 |
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation |
|
Epileptic spasm, Short stature, Bilateral tonic-clonic seizure, Small for gestational age, Focal-... |
ORPHA:289266 |
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions |
|
Myoclonic status epilepticus, Generalized myoclonic seizure, Bilateral tonic-clonic seizure with ... |
OMIM:611726 |
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type) |
|
Focal-onset seizure, Bilateral tonic-clonic seizure, Status epilepticus without prominent motor s... |
OMIM:204300 |
Generalized Epilepsy With Febrile Seizures Plus, Type 1 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... |
OMIM:604233 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 10 |
|
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Gen... |
OMIM:613060 |
Epilepsy, Familial Temporal Lobe, 2 |
|
Bilateral tonic-clonic seizure, Febrile status epilepticus, Focal impaired awareness seizure, Foc... |
OMIM:608096 |
Developmental And Epileptic Encephalopathy 34 |
|
Bilateral tonic-clonic seizure with focal onset, Focal hemiclonic seizure, Focal-onset seizure, S... |
OMIM:616645 |
Pontocerebellar Hypoplasia, Type 14 |
|
Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Myoclonic seizure, Dystonia |
OMIM:619301 |
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Bilateral tonic-clonic seizure, Tremor, Focal-onset seizure, Seizure, Myoclonus |
OMIM:615362 |
Intellectual Developmental Disorder, Autosomal Dominant 5 |
|
Seizure, Torticollis, Bilateral tonic-clonic seizure, Myoclonic absence seizure |
OMIM:612621 |
Yoon-Bellen Neurodevelopmental Syndrome |
|
Bilateral tonic-clonic seizure, Infantile spasms, Generalized myoclonic-atonic seizure, Status ep... |
OMIM:619701 |
Juvenile Absence Epilepsy |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizur... |
ORPHA:1941 |
Developmental And Epileptic Encephalopathy 91 |
|
Epileptic spasm, Short stature, Bilateral tonic-clonic seizure, Tonic seizure, Focal motor seizur... |
OMIM:617711 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Hyperactivity, Bilateral tonic-clonic seizure, Tonic seizure, Tremor, Generalized myoclonic seizure |
OMIM:618090 |
Unilateral Hemispheric Polymicrogyria |
|
Bilateral tonic-clonic seizure, Infantile spasms, Focal atonic seizure, Focal-onset seizure, Gene... |
ORPHA:101071 |
Familial Focal Epilepsy With Variable Foci |
|
Bilateral tonic-clonic seizure, Infantile spasms, Simple febrile seizure, Focal-onset seizure, Fo... |
ORPHA:98820 |
Seizures, Benign Familial Infantile, 3 |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal impaired a... |
OMIM:607745 |
Developmental And Epileptic Encephalopathy 108 |
|
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure with focal ... |
OMIM:620115 |
Myoclonic Epilepsy, Familial Infantile |
|
Bilateral tonic-clonic seizure, Focal-onset seizure, Seizure, Generalized myoclonic seizure, Febr... |
OMIM:605021 |
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements |
|
Focal-onset seizure, Self-injurious behavior, Convulsive status epilepticus, Dystonia, Stereotypi... |
OMIM:618760 |
Epilepsy, Progressive Myoclonic, 12 |
|
Bilateral tonic-clonic seizure, Myoclonus, Attention deficit hyperactivity disorder |
OMIM:619191 |
Cerebral Creatine Deficiency Syndrome 2 |
|
Bilateral tonic-clonic seizure, Aggressive behavior, Tremor, Seizure, Myoclonus, Febrile seizure ... |
OMIM:612736 |
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10 |
|
Generalized myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bil... |
OMIM:617924 |
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, Familial Temporal Lobe, 6 |
|
Bilateral tonic-clonic seizure with focal onset, Focal impaired awareness seizure, Status epilept... |
OMIM:615697 |
Epilepsy, Juvenile Absence, Susceptibility To, 1 |
|
Generalized myoclonic seizure, Bilateral tonic-clonic seizure on awakening, Generalized non-motor... |
OMIM:607631 |
Pontocerebellar Hypoplasia, Type 15 |
|
Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Myoclonic seizure, Dystonia |
OMIM:619302 |
Succinic Semialdehyde Dehydrogenase Deficiency |
|
Hyperactivity, Bilateral tonic-clonic seizure, Aggressive behavior, Generalized non-motor (absenc... |
OMIM:271980 |
Spinocerebellar Ataxia 48 |
|
Dystonia, Bilateral tonic-clonic seizure, Cachexia, Tremor, Dysphagia |
OMIM:618093 |
Intellectual Developmental Disorder, X-Linked 100 |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure |
OMIM:300923 |
Developmental And Epileptic Encephalopathy 52 |
|
Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Seizure, Atypical absence seizure, Gene... |
OMIM:617350 |
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion |
|
Complex febrile seizure, Seizure precipitated by febrile infection, Bilateral tonic-clonic seizur... |
ORPHA:363549 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Hyperactivity, Bilateral tonic-clonic seizure, Inflexible adherence to routines |
OMIM:301076 |
Epilepsy, Progressive Myoclonic, 8 |
|
Choreoathetosis, Action myoclonus, Bilateral tonic-clonic seizure, Myoclonus |
OMIM:616230 |
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures |
|
Hyperactivity, Bilateral tonic-clonic seizure, Aggressive behavior, Seizure, Status epilepticus, ... |
OMIM:620292 |
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Nail-biting, Hyperactivity, Generalized-onset seizure, Bilateral tonic-clonic seizure, Aggressive... |
OMIM:619827 |
Developmental And Epileptic Encephalopathy 99 |
|
Epileptic spasm, Multifocal seizures, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemicl... |
OMIM:619606 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 11 |
|
Generalized myoclonic seizure, Bilateral tonic-clonic seizure on awakening, Generalized non-motor... |
OMIM:607628 |
Seizures, Benign Familial Neonatal, 1 |
|
Febrile seizure (within the age range of 3 months to 6 years), Focal clonic seizure, Bilateral to... |
OMIM:121200 |
Pachygyria With Impaired Intellectual Development, Seizures, And Arachnoid Cysts |
|
Bilateral tonic-clonic seizure, Atypical absence seizure |
OMIM:600176 |
Developmental And Epileptic Encephalopathy 106 |
|
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Postnatal growth retardation, Fo... |
OMIM:620028 |
Mitochondrial Complex I Deficiency, Nuclear Type 12 |
|
Bilateral tonic-clonic seizure, Choreoathetosis, Seizure, Myoclonus, Generalized myoclonic seizure |
OMIM:301020 |
Malignant Migrating Focal Seizures Of Infancy |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset,... |
ORPHA:293181 |
Infantile Cerebellar-Retinal Degeneration |
|
Bilateral tonic-clonic seizure, Focal-onset seizure, Athetosis, Decreased body weight, Failure to... |
OMIM:614559 |
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities |
|
Bilateral tonic-clonic seizure, Severe temper tantrums, Obesity, Generalized non-motor (absence) ... |
OMIM:619854 |
Spinocerebellar Ataxia, Autosomal Recessive 12 |
|
Growth delay, Bilateral tonic-clonic seizure |
OMIM:614322 |
Developmental And Epileptic Encephalopathy 37 |
|
Multifocal seizures, Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Choreoathetosis, M... |
OMIM:616981 |
Neurodevelopmental Disorder With Involuntary Movements |
|
Bilateral tonic-clonic seizure, Infantile spasms, Dysphagia, Athetosis, Self-injurious behavior, ... |
OMIM:617493 |
Febrile Seizures, Familial, 11 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo... |
OMIM:614418 |
Developmental And Epileptic Encephalopathy 63 |
|
Epileptic spasm, Generalized-onset seizure, Bilateral tonic-clonic seizure, Myoclonic seizure, Se... |
OMIM:617976 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Abnormal lower motor neuron morphology, Bilateral tonic-clonic seizure with generalized onset, Ge... |
ORPHA:2590 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Truncal obesity, Bilateral tonic-clonic seizure, Obesity, Large for gestational age |
OMIM:240900 |
Neurodevelopmental Disorder With Hearing Loss And Spasticity |
|
Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Generalized non-motor (abs... |
OMIM:619616 |
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 |
Rolandic Epilepsy-Speech Dyspraxia Syndrome |
|
Focal-onset seizure, Seizure, Bilateral tonic-clonic seizure with focal onset |
ORPHA:163721 |
Developmental And Epileptic Encephalopathy 103 |
|
Epileptic spasm, Hyperactivity, Bilateral tonic-clonic seizure, Tonic seizure, Tonic status epile... |
OMIM:619913 |
Intellectual Developmental Disorder With Seizures And Language Delay |
|
Bilateral tonic-clonic seizure, Myoclonic absence seizure, Myoclonic seizure |
OMIM:619000 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Hyperactivity, Bilateral tonic-clonic seizure, Abnormal repetitive mannerisms, Generalized non-mo... |
OMIM:617600 |
Myoclonic Epilepsy Of Unverricht And Lundborg |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoclonus |
OMIM:254800 |
Intellectual Developmental Disorder, X-Linked 30 |
|
Restlessness, Hyperactivity, Short stature, Bilateral tonic-clonic seizure, Aggressive behavior, ... |
OMIM:300558 |
Lissencephaly 3 |
|
Seizure, Bilateral tonic-clonic seizure, Generalized tonic seizure |
OMIM:611603 |
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Motor tics, Resting tremor, Bilateral tonic-clonic seizure, Myoclonus, Attention deficit hyperact... |
OMIM:619725 |
Seizures, Benign Familial Infantile, 1 |
|
Focal-onset seizure, Generalized-onset seizure, Focal impaired awareness seizure, Bilateral tonic... |
OMIM:601764 |
Clcn4-Related X-Linked Intellectual Disability Syndrome |
|
Hyperactivity, Bilateral tonic-clonic seizure, Infantile spasms, Aggressive behavior, Generalized... |
ORPHA:485350 |
Developmental And Epileptic Encephalopathy 23 |
|
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Focal impaired awareness seizure... |
OMIM:615859 |
Developmental And Epileptic Encephalopathy 66 |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Tonic seizure, C... |
OMIM:618067 |
Episodic Ataxia, Type 5 |
|
Bilateral tonic-clonic seizure, Typical absence seizure, Myoclonus, Atypical absence seizure, Feb... |
OMIM:613855 |
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure |
ORPHA:79137 |
Rasmussen Subacute Encephalitis |
|
Epilepsia partialis continua, Epileptic spasm, Repeated focal motor seizures, Bilateral tonic-clo... |
ORPHA:1929 |
Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
Bilateral tonic-clonic seizure, Tremor, Generalized non-motor (absence) seizure, Myoclonic seizur... |
OMIM:617810 |
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures |
|
Bilateral tonic-clonic seizure, Seizure, Focal impaired awareness seizure, Status epilepticus, Dy... |
OMIM:613970 |
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities |
|
Seizure, Bilateral tonic-clonic seizure |
OMIM:620317 |
Brain Small Vessel Disease 2 |
|
Growth delay, Focal-onset seizure, Bilateral tonic-clonic seizure |
OMIM:614483 |
Behavioral Variant Of Frontotemporal Dementia |
|
Restrictive behavior, Collectionism, Restlessness, Bilateral tonic-clonic seizure, Aggressive beh... |
ORPHA:275864 |
Progressive Myoclonic Epilepsy Type 3 |
|
Bilateral tonic-clonic seizure, Chin myoclonus, Photosensitive myoclonic seizure, Myoclonus, Limb... |
ORPHA:263516 |
Intellectual Developmental Disorder, Autosomal Recessive 44 |
|
Focal-onset seizure, Bilateral tonic-clonic seizure |
OMIM:615942 |
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity |
|
Choreoathetosis, Bilateral tonic-clonic seizure, Dystonia |
ORPHA:53583 |
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Infantile spasms... |
OMIM:619428 |
Congenital Disorder Of Glycosylation, Type Iiy |
|
Bilateral tonic-clonic seizure, Status epilepticus |
OMIM:620200 |
Benign Familial Neonatal-Infantile Seizures |
|
Neonatal seizure, Focal clonic seizure, Bilateral tonic-clonic seizure, Tonic seizure |
ORPHA:140927 |
Unilateral Focal Polymicrogyria |
|
Bilateral tonic-clonic seizure with focal onset, Simple febrile seizure, Aggressive behavior, Foc... |
ORPHA:268947 |
Diabetes Mellitus, Permanent Neonatal, 2 |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Myoclonic seizure |
OMIM:618856 |
Intellectual Developmental Disorder, Autosomal Recessive 41 |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizur... |
OMIM:615637 |
Autosomal Dominant Spastic Paraplegia Type 6 |
|
Postural tremor, Bilateral tonic-clonic seizure |
ORPHA:100988 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Short stature, Bilateral tonic-clonic seizure, Tremor, Overweight, Seizure, Abnormal repetitive m... |
ORPHA:457240 |
Autosomal Recessive Frontotemporal Pachygyria |
|
Seizure, Bilateral tonic-clonic seizure |
ORPHA:329329 |
Developmental And Epileptic Encephalopathy 102 |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Tonic seizure, F... |
OMIM:619881 |
Aminoacylase 1 Deficiency |
|
Seizure, Hyperactivity, Bilateral tonic-clonic seizure |
OMIM:609924 |
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly |
|
Seizure, Failure to thrive, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure |
OMIM:616281 |
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Short stature, Absent pubertal growth spurt, Bilateral tonic-clonic seizure, Obesity, Seizure, Dy... |
ORPHA:464282 |
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent |
|
Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Myoclonic seizure, Myoclonus |
OMIM:617290 |
Severe Neonatal-Onset Encephalopathy With Microcephaly |
|
Growth delay, Seizure, Bilateral tonic-clonic seizure |
ORPHA:209370 |
Severe Canavan Disease |
|
Seizure, Bilateral tonic-clonic seizure, Oral-pharyngeal dysphagia |
ORPHA:314911 |
Peho-Like Syndrome |
|
Bilateral tonic-clonic seizure, Myoclonus, Status epilepticus |
OMIM:617507 |
Ceroid Lipofuscinosis, Neuronal, 3 |
|
Seizure, Bilateral tonic-clonic seizure, Myoclonus |
OMIM:204200 |
Cataracts, Spastic Paraparesis, And Speech Delay |
|
Complex febrile seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure,... |
OMIM:619338 |
Kohlschutter-Tonz Syndrome |
|
Focal-onset seizure, Seizure, Bilateral tonic-clonic seizure, Myoclonic seizure |
OMIM:226750 |
Mitochondrial Complex I Deficiency, Nuclear Type 13 |
|
Failure to thrive, Generalized dystonia, Bilateral tonic-clonic seizure, Focal motor seizure |
OMIM:618235 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Bilateral tonic-clonic seizure with focal onset, Clonic seizure, Seizure, Status epilepticus, Myo... |
OMIM:610539 |
Developmental And Epileptic Encephalopathy 4 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Tremor, Choreoathetosis, Status epilepticus, Gen... |
OMIM:612164 |
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism |
|
Resting tremor, Bilateral tonic-clonic seizure, Postural tremor, Focal motor seizure, Seizure, Dy... |
OMIM:619911 |
Alpers-Huttenlocher Syndrome |
|
Choreoathetosis, Focal-onset seizure, Bilateral tonic-clonic seizure, Myoclonus |
ORPHA:726 |
Intellectual Developmental Disorder With Severe Speech And Ambulation Defects |
|
Bilateral tonic-clonic seizure, Infantile spasms |
OMIM:618470 |
Glycogen Storage Disease 0, Muscle |
|
Bilateral tonic-clonic seizure |
OMIM:611556 |
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome |
|
Growth delay, Intrauterine growth retardation, Seizure, Bilateral tonic-clonic seizure |
ORPHA:488635 |
Rolandic Epilepsy |
|
Focal hemifacial clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset sei... |
ORPHA:1945 |
Developmental And Epileptic Encephalopathy 93 |
|
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Clonic seizure, Focal-onset seiz... |
OMIM:618012 |
Spastic Ataxia 5, Autosomal Recessive |
|
Dystonia, Bilateral tonic-clonic seizure, Myoclonus, Dysphagia, Generalized myoclonic seizure |
OMIM:614487 |
Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, T... |
OMIM:300607 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type |
|
Seizure, Bilateral tonic-clonic seizure, Action tremor |
OMIM:300423 |
Oxoglutarate Dehydrogenase Deficiency |
|
Bilateral tonic-clonic seizure, Dystonia |
OMIM:203740 |
Familial Infantile Myoclonic Epilepsy |
|
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure, Simple feb... |
ORPHA:352582 |
Dk1-Cdg |
|
Short stature, Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Seizure, Fa... |
ORPHA:91131 |
Mercaptolactate-Cysteine Disulfiduria |
|
Bilateral tonic-clonic seizure |
OMIM:249650 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Hyperactivity, Bilateral tonic-clonic seizure, Aggressive behavior, Focal-onset seizure, Typical ... |
ORPHA:168491 |
Intellectual Developmental Disorder, X-Linked 98 |
|
Hyperactivity, Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Postnatal growth ... |
OMIM:300912 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4 |
|
Bilateral tonic-clonic seizure, Myoclonic seizure, Growth delay, Seizure, Bruxism |
OMIM:615716 |
Developmental And Epileptic Encephalopathy 47 |
|
Bilateral tonic-clonic seizure, Tonic seizure, Focal-onset seizure, Status epilepticus, Agitation |
OMIM:617166 |
Polymicrogyria With Optic Nerve Hypoplasia |
|
Seizure, Bilateral tonic-clonic seizure, Infantile spasms |
ORPHA:250972 |
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome |
|
Dystonia, Bilateral tonic-clonic seizure, Myoclonus, Dysphagia, Generalized myoclonic seizure |
ORPHA:313772 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Impulsivity, Tonic seizure, Aggressive behavior,... |
OMIM:619580 |
Systemic Primary Carnitine Deficiency |
|
Bilateral tonic-clonic seizure with focal onset |
ORPHA:158 |
D-Glyceric Aciduria |
|
Bilateral tonic-clonic seizure, Tongue thrusting, Opisthotonus, Growth delay, Seizure, Focal clon... |
OMIM:220120 |
Developmental And Epileptic Encephalopathy 41 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Focal tonic seizure, Myoclonic seizure, Myocloni... |
OMIM:617105 |
Sulfite Oxidase Deficiency, Isolated |
|
Choreoathetosis, Generalized dystonia, Bilateral tonic-clonic seizure, Agitation |
OMIM:272300 |
Chromosome 22Q13 Duplication Syndrome |
|
Bilateral tonic-clonic seizure, Impulsivity, Status epilepticus, Attention deficit hyperactivity ... |
OMIM:615538 |
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy |
|
Paroxysmal dystonia, Bilateral tonic-clonic seizure, Focal hyperkinetic seizure, Attention defici... |
ORPHA:98784 |
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay |
|
Short stature, Bilateral tonic-clonic seizure |
OMIM:615031 |
Lissencephaly 9 With Complex Brainstem Malformation |
|
Short stature, Bilateral tonic-clonic seizure, Infantile spasms, Myoclonic seizure, Seizure, Foca... |
OMIM:618325 |
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures |
|
Multifocal seizures, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Sei... |
OMIM:618170 |
Gm2 Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Short stature, Postnatal growth retardation, Abnormal fear-induced ... |
ORPHA:309246 |
X-Linked Intellectual Disability, Hedera Type |
|
Obesity, Atonic seizure, Action tremor, Bilateral tonic-clonic seizure |
ORPHA:93952 |
Cln3 Disease |
|
Bilateral tonic-clonic seizure, Aggressive behavior, Focal-onset seizure, Myoclonic seizure, Seiz... |
ORPHA:228346 |
Dentici-Novelli Neurodevelopmental Syndrome |
|
Abnormal repetitive mannerisms, Epileptic spasm, Bilateral tonic-clonic seizure, Myoclonic seizure |
OMIM:619877 |
Childhood Absence Epilepsy |
|
Bilateral tonic-clonic seizure, Typical absence seizure, Punding, Attention deficit hyperactivity... |
ORPHA:64280 |
Pitt-Hopkins-Like Syndrome 1 |
|
Hyperactivity, Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Aggres... |
OMIM:610042 |
Developmental And Epileptic Encephalopathy 90 |
|
Focal-onset seizure, Bilateral tonic-clonic seizure, Focal impaired awareness seizure |
OMIM:301058 |
Houge-Janssens Syndrome 3 |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset seiz... |
OMIM:618354 |
Epilepsy, Familial Adult Myoclonic, 2 |
|
Tremor, Blepharospasm, Bilateral tonic-clonic seizure, Myoclonus |
OMIM:607876 |
Intellectual Developmental Disorder, Autosomal Dominant 42 |
|
Myoclonic seizure, Limb dystonia, Tonic seizure, Focal hemiclonic seizure, Seizure, Myoclonus, Fe... |
OMIM:616973 |
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect |
|
Stillbirth, Bilateral tonic-clonic seizure, Focal impaired awareness seizure |
OMIM:617468 |
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome |
|
Tremor, Seizure, Bilateral tonic-clonic seizure, Status epilepticus |
ORPHA:529665 |
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure, Tongue thr... |
ORPHA:98795 |
Hyperekplexia 3 |
|
Exaggerated startle response, Bilateral tonic-clonic seizure, Myoclonus |
OMIM:614618 |
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome |
|
Bilateral tonic-clonic seizure, Dystonia |
ORPHA:457205 |
Developmental And Epileptic Encephalopathy 61 |
|
Seizure, Focal clonic seizure, Bilateral tonic-clonic seizure with focal onset |
OMIM:617933 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Bilateral tonic-clonic seizure, Small for gestational age, Infantile spasms, Seizure, Dystonia, I... |
ORPHA:79243 |
Sandhoff Disease, Infantile Form |
|
Exaggerated startle response, Bilateral tonic-clonic seizure, Myoclonic seizure, Seizure, Myoclonus |
ORPHA:309155 |
X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Short stature, Bilateral tonic-clonic seizure, Aggressive behavior, Seizure, Status epilepticus, ... |
ORPHA:364028 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Hyperactivity, Bilateral tonic-clonic seizure with focal onset, Aggressive behavior, Focal-onset ... |
ORPHA:163681 |
Developmental And Epileptic Encephalopathy 18 |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Tonic seizure, Focal-... |
OMIM:615476 |
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities |
|
Bilateral tonic-clonic seizure, Aggressive behavior |
OMIM:616083 |
Microcephaly, Epilepsy, And Diabetes Syndrome 2 |
|
Small for gestational age, Bilateral tonic-clonic seizure |
OMIM:619278 |
Sarcosinemia |
|
Bilateral tonic-clonic seizure |
ORPHA:3129 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Bilateral tonic-clonic seizure, Seizure, Myoclonic spasms, Dysphagia, Abnormal repetitive mannerisms |
ORPHA:79264 |
D-2-Hydroxyglutaric Aciduria 1 |
|
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Myoclonic seizure, Seizure |
OMIM:600721 |
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome |
|
Bilateral tonic-clonic seizure, Growth delay, Seizure, Focal impaired awareness seizure, Failure ... |
ORPHA:488613 |
Combined Oxidative Phosphorylation Deficiency 27 |
|
Bilateral tonic-clonic seizure, Opisthotonus, Status epilepticus, Myoclonus, Dystonia, Failure to... |
OMIM:616672 |
Ritscher-Schinzel Syndrome 4 |
|
Short stature, Bilateral tonic-clonic seizure, Impulsivity, Aggressive behavior, Focal-onset seiz... |
OMIM:619435 |
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Restlessness, Bilateral tonic-clonic seizure, Infantile spasms, Seizure, Failure to thrive |
ORPHA:544503 |
Early Infantile Epileptic Encephalopathy |
|
Hyperactivity, Bilateral tonic-clonic seizure, Infantile spasms, Generalized clonic seizure, Trem... |
ORPHA:1934 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
Short stature, Bilateral tonic-clonic seizure |
OMIM:618120 |
Congenital Insensitivity To Pain With Severe Intellectual Disability |
|
Small for gestational age, Bilateral tonic-clonic seizure, Self-mutilation |
ORPHA:453510 |
Pelger-Huet Anomaly |
|
Mild short stature, Failure to thrive, Seizure, Bilateral tonic-clonic seizure |
OMIM:169400 |
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form |
|
Epileptic spasm, Short stature, Bilateral tonic-clonic seizure, Generalized non-motor (absence) s... |
ORPHA:79351 |
Spinocerebellar Ataxia With Epilepsy |
|
Tremor, Bilateral tonic-clonic seizure with focal onset, Myoclonus, Dystonia |
ORPHA:254881 |
Coenzyme Q10 Deficiency, Primary, 3 |
|
Bilateral tonic-clonic seizure with focal onset, Focal motor status epilepticus |
OMIM:614652 |
New-Onset Refractory Status Epilepticus |
|
Seizure precipitated by febrile infection, Bilateral tonic-clonic seizure with focal onset, Focal... |
ORPHA:363558 |
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Pseudobulbar paralysis, Bilateral tonic-clonic seizure, Aggressive behavior |
ORPHA:199354 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Bilateral tonic-clonic seizure, Seizure, Athetosis, Focal impaired awareness seizure, Polydipsia,... |
ORPHA:369929 |
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Multifocal seizures, Bilateral tonic-clonic seizure, Infantile spasms, Hypoglycemic seizures, Dys... |
ORPHA:480864 |
Developmental And Epileptic Encephalopathy 49 |
|
Exaggerated startle response, Hyperactivity, Bilateral tonic-clonic seizure, Tonic seizure, Cloni... |
OMIM:617281 |
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Epileptic spasm, Generalized-onset seizure, Short stature, Bilateral tonic-clonic seizure with fo... |
OMIM:620024 |
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Bilateral tonic-clonic seizure |
OMIM:540000 |
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form |
|
Postnatal growth retardation, Bilateral tonic-clonic seizure |
ORPHA:79350 |
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Bilateral tonic-clonic seizure, Head-banging |
OMIM:619356 |
Canavan Disease |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Opisthotonus |
OMIM:271900 |
Epilepsy, Early-Onset, 2, With Or Without Developmental Delay |
|
Bilateral tonic-clonic seizure |
OMIM:618832 |
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Bilateral tonic-clonic seizure, Infantile spasms, Generalized non-motor (absence) seizure, Seizur... |
ORPHA:457351 |
Lafora Disease |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset seiz... |
ORPHA:501 |
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome |
|
Intention tremor, Focal clonic seizure, Bilateral tonic-clonic seizure |
OMIM:618381 |
Alternating Hemiplegia Of Childhood |
|
Bilateral tonic-clonic seizure, Anorexia, Oral-pharyngeal dysphagia, Tremor, Aggressive behavior,... |
ORPHA:2131 |
3-Methylglutaconic Aciduria, Type Viia |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Atypical absence seizure, Myoclonic se... |
OMIM:619835 |
Intellectual Developmental Disorder, Autosomal Dominant 34 |
|
Abnormal repetitive mannerisms, Bilateral tonic-clonic seizure, Bruxism |
OMIM:616351 |
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Short stature, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Inappropr... |
OMIM:615802 |
Molybdenum Cofactor Deficiency, Complementation Group C |
|
Generalized myoclonic seizure, Generalized-onset seizure, Bilateral tonic-clonic seizure, Neonata... |
OMIM:615501 |
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy |
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Bilateral tonic-clonic seizure, Aggressive behavior, Seizure, Failure to thrive, Focal myoclonic ... |
ORPHA:481152 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
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Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ca... |
ORPHA:42 |
Jaberi-Elahi Syndrome |
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Bilateral tonic-clonic seizure, Tremor, Choreoathetosis, Dystonia, Failure to thrive |
OMIM:617988 |
Developmental And Epileptic Encephalopathy 105 With Hypopituitarism |
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Focal impaired awareness seizure, Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure |
OMIM:619983 |
Developmental And Epileptic Encephalopathy 100 |
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Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Focal-onset seizure, Typical abs... |
OMIM:619777 |
Myoclonic Epilepsy Of Lafora |
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Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Generalized non-... |
OMIM:254780 |
Lissencephaly Due To Tuba1A Mutation |
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Focal-onset seizure, Bilateral tonic-clonic seizure, Infantile spasms |
ORPHA:171680 |
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
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Severe failure to thrive, Intrauterine growth retardation, Short stature, Bilateral tonic-clonic ... |
ORPHA:423479 |
Glass Syndrome |
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Restlessness, Hyperactivity, Short stature, Bilateral tonic-clonic seizure, Aggressive behavior, ... |
OMIM:612313 |
Migraine, Familial Hemiplegic, 2 |
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Tremor, Bilateral tonic-clonic seizure, Focal motor seizure |
OMIM:602481 |
Fatty Acid Hydroxylase-Associated Neurodegeneration |
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Focal-onset seizure, Generalized dystonia, Bilateral tonic-clonic seizure, Dysphagia |
ORPHA:329308 |
Bone Marrow Failure Syndrome 5 |
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Growth delay, Short stature, Bilateral tonic-clonic seizure |
OMIM:618165 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3 |
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Short stature, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoclonic... |
OMIM:614207 |
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties |
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Short stature, Bilateral tonic-clonic seizure, Myoclonic seizure |
OMIM:620070 |
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
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Bilateral tonic-clonic seizure, Dysphagia, Growth delay, Dystonia, Febrile seizure (within the ag... |
ORPHA:496641 |
Bilateral Polymicrogyria |
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Generalized-onset seizure, Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure,... |
ORPHA:268940 |
Intellectual Developmental Disorder, Autosomal Dominant 54 |
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Short stature, Bilateral tonic-clonic seizure, Small for gestational age, Aggressive behavior, Gr... |
OMIM:617799 |
Japanese Encephalitis |
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Bilateral tonic-clonic seizure, Anorexia, Tremor, Paucity of anterior horn motor neurons, Focal m... |
ORPHA:79139 |
3P25.3 Microdeletion Syndrome |
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Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Attention deficit hypera... |
ORPHA:435638 |
Mitochondrial Trifunctional Protein Deficiency 2 |
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Neonatal death, Seizure, Bilateral tonic-clonic seizure |
OMIM:620300 |
Warburg Micro Syndrome 3 |
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Postnatal growth retardation, Bilateral tonic-clonic seizure, Myoclonic seizure |
OMIM:614222 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
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Bilateral tonic-clonic seizure, Large for gestational age, Generalized non-motor (absence) seizur... |
OMIM:615398 |
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
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Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Sei... |
ORPHA:395 |
Molybdenum Cofactor Deficiency, Complementation Group B |
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Bilateral tonic-clonic seizure, Opisthotonus, Growth delay, Seizure, Myoclonic spasms, Neonatal d... |
OMIM:252160 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
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Focal-onset seizure, Bilateral tonic-clonic seizure |
OMIM:618316 |
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures |
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Torticollis, Bilateral tonic-clonic seizure, Infantile spasms, Generalized non-motor (absence) se... |
OMIM:620224 |
Mosaic Variegated Aneuploidy Syndrome 1 |
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Short stature, Bilateral tonic-clonic seizure, Small for gestational age, Postnatal growth retard... |
OMIM:257300 |
Nivelon-Nivelon-Mabille Syndrome |
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Focal-onset seizure, Severe short stature, Bilateral tonic-clonic seizure |
OMIM:600092 |
Epilepsy, X-Linked 2, With Or Without Impaired Intellectual Development And Dysmorphic Features |
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Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Generalized non-motor (absence) s... |
OMIM:301091 |
Choreoacanthocytosis |
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Compulsive behaviors, Limb dystonia, Laryngeal dystonia, Self-mutilation of tongue and lips due t... |
ORPHA:2388 |
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome |
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Eunuchoid habitus, Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic... |
ORPHA:3044 |
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum |
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Epileptic spasm, Bilateral tonic-clonic seizure, Growth delay, Seizure, Generalized tonic seizure |
OMIM:617193 |
1Q44 Microdeletion Syndrome |
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Growth delay, Short stature, Bilateral tonic-clonic seizure |
ORPHA:238769 |
Sandhoff Disease |
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Exaggerated startle response, Bilateral tonic-clonic seizure, Myoclonic seizure |
OMIM:268800 |
Chromosome Xp11.3 Deletion Syndrome |
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Short stature, Bilateral tonic-clonic seizure |
OMIM:300578 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation |
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Bilateral tonic-clonic seizure, Simple febrile seizure, Aggressive behavior, Typical absence seiz... |
ORPHA:466950 |
Developmental And Epileptic Encephalopathy 95 |
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Multifocal seizures, Bilateral tonic-clonic seizure, Focal-onset seizure, Seizure, Status epilept... |
OMIM:618143 |
Mitochondrial Dna-Associated Leigh Syndrome |
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Bilateral tonic-clonic seizure, Infantile spasms, Dysphagia, Seizure, Dystonia, Generalized myocl... |
ORPHA:255210 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
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Failure to thrive in infancy, Bilateral tonic-clonic seizure with focal onset, Aggressive behavio... |
ORPHA:488627 |
Kinsship Syndrome |
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Short stature, Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absenc... |
OMIM:619297 |
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
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Bilateral tonic-clonic seizure, Aggressive behavior, Generalized non-motor (absence) seizure, Obe... |
ORPHA:466943 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
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Athetosis, Bilateral tonic-clonic seizure, Myoclonic seizure |
OMIM:615474 |
Hermansky-Pudlak Syndrome 10 |
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Bilateral tonic-clonic seizure, Focal myoclonic seizure, Dystonia |
OMIM:617050 |
Webb-Dattani Syndrome |
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Short stature, Obesity, Bilateral tonic-clonic seizure |
OMIM:615926 |
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
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Hyperactivity, Bilateral tonic-clonic seizure, Infantile spasms, Hair-pulling, Myoclonic spasms, ... |
ORPHA:447997 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
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Bilateral tonic-clonic seizure, Postnatal growth retardation, Growth delay, Seizure, Abnormal rep... |
OMIM:301040 |
Hyperphosphatasia-Intellectual Disability Syndrome |
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Growth delay, Seizure, Bilateral tonic-clonic seizure, Myoclonus |
ORPHA:247262 |
Intellectual Developmental Disorder, Autosomal Dominant 53 |
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Growth delay, Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clon... |
OMIM:617798 |
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
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Bilateral tonic-clonic seizure |
ORPHA:369840 |
Microcephaly, Epilepsy, And Diabetes Syndrome 1 |
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Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo... |
OMIM:614231 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
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Hyperactivity, Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure, Self-injurious b... |
OMIM:619512 |
Combined Oxidative Phosphorylation Deficiency 3 |
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Bilateral tonic-clonic seizure, Tremor, Seizure, Dystonia, Intrauterine growth retardation |
OMIM:610505 |
Biotinidase Deficiency |
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Bilateral tonic-clonic seizure, Infantile spasms, Focal motor seizure, Seizure, Generalized myocl... |
ORPHA:79241 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
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Bilateral tonic-clonic seizure |
OMIM:201475 |
Hallermann-Streiff Syndrome |
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Hyperactivity, Bilateral tonic-clonic seizure, Small for gestational age, Proportionate short sta... |
OMIM:234100 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
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Growth delay, Bilateral tonic-clonic seizure |
ORPHA:436159 |
Melas |
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Short stature, Bilateral tonic-clonic seizure, Focal-onset seizure, Seizure, Myoclonus, Failure t... |
ORPHA:550 |
Isolated Permanent Neonatal Diabetes Mellitus |
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Bilateral tonic-clonic seizure, Weight loss, Generalized myoclonic seizure, Intrauterine growth r... |
ORPHA:99885 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
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Short stature, Bilateral tonic-clonic seizure, Small for gestational age, Failure to thrive in in... |
ORPHA:268261 |
W Syndrome |
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Bilateral tonic-clonic seizure |
ORPHA:2804 |
Lujo Hemorrhagic Fever |
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Seizure, Bilateral tonic-clonic seizure, Resting tremor, Dysphagia |
ORPHA:319213 |
Weaver Syndrome |
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Seizure, Polyphagia, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure |
OMIM:277590 |
Pseudoleprechaunism Syndrome, Patterson Type |
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Intrauterine growth retardation, Atonic seizure, Bilateral tonic-clonic seizure |
ORPHA:2976 |
Combined Oxidative Phosphorylation Defect Type 29 |
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Bilateral tonic-clonic seizure, Myoclonic spasms |
ORPHA:478029 |
Combined Oxidative Phosphorylation Deficiency 15 |
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Short stature, Bilateral tonic-clonic seizure with focal onset, Tremor, Obesity, Seizure |
OMIM:614947 |
Cocaine Intoxication |
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Bilateral tonic-clonic seizure, Tremor, Focal-onset seizure, Atypical absence status epilepticus,... |
ORPHA:90068 |
Amish Lethal Microcephaly |
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Bilateral tonic-clonic seizure |
ORPHA:99742 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
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Nail-biting, Bilateral tonic-clonic seizure, Aggressive behavior, Hair-pulling, Polyphagia, Gener... |
OMIM:620330 |
X Small Rings |
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Growth delay, Seizure, Bilateral tonic-clonic seizure |
ORPHA:96201 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
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Bilateral tonic-clonic seizure, Repetitive compulsive behavior, Generalized non-motor (absence) s... |
ORPHA:513456 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
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Bilateral tonic-clonic seizure, Failure to thrive in infancy |
ORPHA:79124 |
De Sanctis-Cacchione Syndrome |
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Choreoathetosis, Severe short stature, Bilateral tonic-clonic seizure |
OMIM:278800 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
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Seizure, Failure to thrive, Bilateral tonic-clonic seizure, Myoclonus |
OMIM:618426 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
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Bilateral tonic-clonic seizure, Obesity, Generalized non-motor (absence) seizure, Generalized myo... |
ORPHA:369837 |
Neuromuscular Oculoauditory Syndrome |
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Bilateral tonic-clonic seizure, Infantile spasms |
OMIM:618733 |
D-Bifunctional Protein Deficiency |
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Seizure, Failure to thrive, Bilateral tonic-clonic seizure |
OMIM:261515 |
Oliver Syndrome |
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Intrauterine growth retardation, Bilateral tonic-clonic seizure |
ORPHA:2920 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
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Multifocal seizures, Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Growt... |
OMIM:301044 |
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities |
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Hyperactivity, Short stature, Bilateral tonic-clonic seizure, Aggressive behavior, Generalized my... |
OMIM:614756 |
Ogden Syndrome |
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Torticollis, Generalized-onset seizure, Short stature, Bilateral tonic-clonic seizure, Postnatal ... |
OMIM:300855 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
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Bilateral tonic-clonic seizure, Large for gestational age, Myoclonic seizure, Seizure, Violent be... |
OMIM:280000 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
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Generalized-onset seizure, Atonic seizure, Bilateral tonic-clonic seizure |
OMIM:620066 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
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Growth delay, Failure to thrive, Bilateral tonic-clonic seizure |
OMIM:252010 |
Gaucher Disease |
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Short stature, Bilateral tonic-clonic seizure, Tremor, Dysphagia, Delayed puberty, Generalized my... |
ORPHA:355 |
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome |
|
Bilateral tonic-clonic seizure, Focal-onset seizure, Growth delay, Seizure, Delayed puberty, Febr... |
ORPHA:459070 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Bilateral tonic-clonic seizure, Tremor, Generalized non-motor (absence) seizure, Seizure, Truncal... |
OMIM:612474 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
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Epileptic spasm, Exaggerated startle response, Short stature, Dysphagia, Seizure, Myoclonus, Dyst... |
ORPHA:438213 |
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Bilateral tonic-clonic seizure, Slender build, Large for gestational age |
ORPHA:457359 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
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Bilateral tonic-clonic seizure, Myoclonic spasms |
ORPHA:73224 |
Hartsfield Syndrome |
|
Growth delay, Bilateral tonic-clonic seizure |
OMIM:615465 |
Orofaciodigital Syndrome Type 2 |
|
Short stature, Bilateral tonic-clonic seizure |
ORPHA:2751 |
Holoprosencephaly 14 |
|
Bilateral tonic-clonic seizure |
OMIM:619895 |
Sotos Syndrome |
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Bilateral tonic-clonic seizure, Aggressive behavior, Tremor, Generalized non-motor (absence) seiz... |
ORPHA:821 |
Doors Syndrome |
|
Bilateral tonic-clonic seizure, Myoclonus, Focal impaired awareness seizure |
ORPHA:79500 |
Kabuki Syndrome 1 |
|
Short stature, Bilateral tonic-clonic seizure with focal onset, Postnatal growth retardation, Gro... |
OMIM:147920 |