Developmental And Epileptic Encephalopathy 94 |
|
Status epilepticus, Atonic seizure, Generalized myoclonic seizure, Tonic seizure, EEG with genera... |
OMIM:615369 |
Epilepsy, Myoclonic Juvenile |
|
Status epilepticus, Morning myoclonic jerks, EEG with generalized polyspikes, Bilateral tonic-clo... |
OMIM:254770 |
Jeavons Syndrome |
|
EEG with focal spikes, EEG with photoparoxysmal response, Bilateral tonic-clonic seizure with gen... |
ORPHA:139431 |
Developmental And Epileptic Encephalopathy 19 |
|
EEG with photoparoxysmal response, Status epilepticus, Atonic seizure, Focal hemiclonic seizure, ... |
OMIM:615744 |
Continuous Spikes And Waves During Sleep |
|
Typical absence seizure, Atypical absence seizure, Focal motor seizure, Atonic seizure, Focal hem... |
ORPHA:725 |
Epilepsy, Idiopathic Generalized |
|
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Generalized non-motor (absence) se... |
OMIM:600669 |
Epilepsy, Juvenile Absence, Susceptibility To, 1 |
|
Generalized myoclonic seizure, Bilateral tonic-clonic seizure on awakening, EEG with spike-wave c... |
OMIM:607631 |
Benign Familial Infantile Epilepsy |
|
Status epilepticus, Focal motor seizure, Focal impaired awareness seizure, Generalized tonic seiz... |
ORPHA:306 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 16 |
|
Multifocal epileptiform discharges, Myoclonic absence seizure, Myoclonic seizure, Atypical absenc... |
OMIM:618596 |
Developmental And Epileptic Encephalopathy 57 |
|
Atypical absence seizure, Generalized myoclonic seizure, Hypsarrhythmia, Seizure |
OMIM:617771 |
Perioral Myoclonia With Absences |
|
EEG with spike-wave complexes, Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Gen... |
ORPHA:139426 |
Developmental And Epileptic Encephalopathy 26 |
|
Atypical absence seizure, Atonic seizure, Focal impaired awareness seizure, Bilateral tonic-cloni... |
OMIM:616056 |
Epilepsy, Childhood Absence, Susceptibility To, 1 |
|
EEG with spike-wave complexes (>3.5 Hz), EEG with polyspike wave complexes, Febrile seizure (with... |
OMIM:600131 |
Febrile Seizures, Familial, 8 |
|
EEG with spike-wave complexes (>3.5 Hz), EEG with polyspike wave complexes, Febrile seizure (with... |
OMIM:607681 |
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures |
|
EEG abnormality, Focal impaired awareness seizure, Generalized myoclonic seizure, Myoclonic seizu... |
OMIM:617831 |
Developmental And Epileptic Encephalopathy 9 |
|
Status epilepticus, Atonic seizure, Generalized myoclonic seizure, Bilateral tonic-clonic seizure... |
OMIM:300088 |
Myoclonic Epilepsy Of Unverricht And Lundborg |
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EEG with spike-wave complexes, EEG with polyspike wave complexes, Myoclonus, Bilateral tonic-clon... |
OMIM:254800 |
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy |
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Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, EEG with spike-wave comp... |
OMIM:609446 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 9 |
|
Typical absence seizure, Atypical absence seizure, Morning myoclonic jerks, EEG with spike-wave c... |
OMIM:607682 |
Juvenile Myoclonic Epilepsy |
|
Status epilepticus, Morning myoclonic jerks, EEG with polyspike wave complexes, Febrile seizure (... |
ORPHA:307 |
Developmental And Epileptic Encephalopathy 13 |
|
Clonic seizure, Focal hemiclonic seizure, EEG with spike-wave complexes, Tonic seizure, Bilateral... |
OMIM:614558 |
Generalized Epilepsy With Febrile Seizures Plus, Type 2 |
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Atonic seizure, Focal hemiclonic seizure, Generalized myoclonic seizure, Generalized tonic seizur... |
OMIM:604403 |
Developmental And Epileptic Encephalopathy 67 |
|
EEG abnormality, Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Hypsarrh... |
OMIM:618141 |
Juvenile Absence Epilepsy |
|
EEG with polyspike wave complexes, Myoclonus, Febrile seizure (within the age range of 3 months t... |
ORPHA:1941 |
Dravet Syndrome |
|
Status epilepticus, Atonic seizure, Focal hemiclonic seizure, Focal impaired awareness seizure, G... |
OMIM:607208 |
Febrile Seizures, Familial, 9 |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (absence) se... |
OMIM:611634 |
Developmental And Epileptic Encephalopathy 33 |
|
Typical absence seizure, Myoclonic seizure, Epileptic spasm, Bilateral tonic-clonic seizure, Hyps... |
OMIM:616409 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 14 |
|
Generalized myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bil... |
OMIM:616685 |
Lennox-Gastaut Syndrome |
|
Atypical absence seizure, Atonic seizure, EEG abnormality, Generalized myoclonic seizure, General... |
ORPHA:2382 |
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 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 15 |
|
Myoclonus, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Eyel... |
OMIM:618357 |
Developmental And Epileptic Encephalopathy 56 |
|
Status epilepticus, Focal motor seizure, EEG abnormality, EEG with polyspike wave complexes, Myoc... |
OMIM:617665 |
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 7 |
|
Atonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-cl... |
OMIM:613863 |
Landau-Kleffner Syndrome |
|
EEG with frontal focal spikes, Atypical absence seizure, Focal motor seizure, Bilateral tonic-clo... |
ORPHA:98818 |
Intellectual Developmental Disorder With Seizures And Language Delay |
|
EEG with polyspike wave complexes, Increased theta frequency activity in EEG, Myoclonic seizure, ... |
OMIM:619000 |
Developmental And Epileptic Encephalopathy 43 |
|
Atypical absence seizure, Atonic seizure, Infantile spasms, Myoclonic seizure, Bilateral tonic-cl... |
OMIM:617113 |
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Atypical absence seizure, Absence seizure with eyelid myoclonia, Atonic seizure, EEG with spike-w... |
OMIM:618587 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 11 |
|
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure on awakening, Generalized... |
OMIM:607628 |
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 |
Developmental And Epileptic Encephalopathy 24 |
|
Status epilepticus, Clonic seizure, Myoclonic seizure, Febrile seizure (within the age range of 3... |
OMIM:615871 |
Lissencephaly 10 |
|
Atypical absence seizure, EEG abnormality, Atonic seizure, Focal impaired awareness seizure, Toni... |
OMIM:618873 |
Ceroid Lipofuscinosis, Neuronal, 6A |
|
Abnormal nervous system electrophysiology, Seizure |
OMIM:601780 |
Epilepsy, Progressive Myoclonic, 6 |
|
Atonic seizure, EEG with spike-wave complexes, Myoclonus, Myoclonic status epilepticus, Bilateral... |
OMIM:614018 |
Female Restricted Epilepsy With Intellectual Disability |
|
Status epilepticus, Atypical absence seizure, Atonic seizure, Generalized myoclonic seizure, Gene... |
ORPHA:101039 |
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy |
|
Myoclonic seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizu... |
OMIM:619157 |
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 18 |
|
EEG abnormality, Generalized-onset seizure, Generalized non-motor (absence) seizure, Focal-onset ... |
OMIM:615476 |
Pyridoxine-Dependent Epilepsy |
|
Status epilepticus, Atonic seizure, Early onset absence seizures, Focal aware motor seizure, Epil... |
ORPHA:3006 |
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome |
|
Bilateral tonic-clonic seizure, Generalized-onset seizure, Generalized non-motor (absence) seizur... |
ORPHA:79137 |
Episodic Ataxia, Type 5 |
|
Typical absence seizure, Atypical absence seizure, EEG with spike-wave complexes, Myoclonus, EEG ... |
OMIM:613855 |
Intellectual Developmental Disorder, X-Linked 100 |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure |
OMIM:300923 |
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 |
Intellectual Developmental Disorder, Autosomal Dominant 5 |
|
Bilateral tonic-clonic seizure, EEG abnormality, Myoclonic absence seizure, Seizure |
OMIM:612621 |
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 |
Generalized Epilepsy With Febrile Seizures-Plus |
|
Status epilepticus, Atonic seizure, Focal impaired awareness seizure, EEG with spike-wave complex... |
ORPHA:36387 |
Myoclonic Epilepsy Of Infancy |
|
Generalized myoclonic seizure, EEG with irregular generalized spike and wave complexes, Myoclonus... |
ORPHA:86909 |
Developmental And Epileptic Encephalopathy 99 |
|
Status epilepticus, Focal hemiclonic seizure, Focal impaired awareness seizure, Tonic seizure, Ep... |
OMIM:619606 |
Developmental And Epileptic Encephalopathy 6B |
|
Focal hemiclonic seizure, Tonic seizure, EEG with spike-wave complexes (>3.5 Hz), Myoclonus, Myoc... |
OMIM:619317 |
Intellectual Developmental Disorder, X-Linked 41 |
|
Generalized non-motor (absence) seizure |
OMIM:300849 |
Developmental And Epileptic Encephalopathy 103 |
|
Atonic seizure, Tonic status epilepticus, Focal impaired awareness seizure, Continuous spike and ... |
OMIM:619913 |
Pachygyria With Mental Retardation, Seizures, And Arachnoid Cysts |
|
Atypical absence seizure, Bilateral tonic-clonic seizure |
OMIM:600176 |
Polymicrogyria, Bilateral Perisylvian, X-Linked |
|
Atypical absence seizure, Bilateral tonic-clonic seizure |
OMIM:300388 |
Developmental And Epileptic Encephalopathy 52 |
|
Atypical absence seizure, Focal hemiclonic seizure, Generalized myoclonic seizure, Febrile seizur... |
OMIM:617350 |
Hyperinsulinism-Hyperammonemia Syndrome |
|
Generalized-onset seizure, Generalized non-motor (absence) seizure, EEG with generalized epilepti... |
ORPHA:35878 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Typical absence seizure, Bilateral tonic-clonic seizure with generalized onset, Atonic seizure, G... |
ORPHA:2590 |
Rolandic Epilepsy |
|
Atypical absence seizure, Focal hemifacial clonic seizure, EEG with irregular generalized spike a... |
ORPHA:1945 |
Epilepsy, Childhood Absence, Susceptibility To, 5 |
|
Generalized non-motor (absence) seizure |
OMIM:612269 |
Dravet Syndrome |
|
Atypical absence seizure, Focal hemiclonic seizure, Focal impaired awareness seizure, Generalized... |
ORPHA:33069 |
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 |
Myoclonic-Atonic Epilepsy |
|
Eyelid myoclonus, Generalized non-motor (absence) seizure |
OMIM:616421 |
Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Bilateral tonic-clonic seizure, EEG abnormality, Myoclonic absence seizure, Generalized myoclonic... |
OMIM:617836 |
Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
EEG abnormality, Atonic seizure, Myoclonic seizure, Bilateral tonic-clonic seizure, Generalized n... |
OMIM:617810 |
Autism Spectrum Disorder-Epilepsy-Arthrogryposis Syndrome |
|
Generalized non-motor (absence) seizure |
ORPHA:370943 |
Succinic Semialdehyde Dehydrogenase Deficiency |
|
Status epilepticus, EEG abnormality, Generalized myoclonic seizure, Bilateral tonic-clonic seizur... |
OMIM:271980 |
Cataracts, Spastic Paraparesis, And Speech Delay |
|
Focal motor seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Com... |
OMIM:619338 |
Neurodevelopmental Disorder With Hearing Loss And Spasticity |
|
Infantile spasms, Myoclonic seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absen... |
OMIM:619616 |
Arthrogryposis, Impaired Intellectual Development, And Seizures |
|
Focal motor seizure, Generalized non-motor (absence) seizure |
OMIM:615553 |
Lipoid Proteinosis Of Urbach And Wiethe |
|
Generalized non-motor (absence) seizure, Seizure |
OMIM:247100 |
Myoclonic-Astatic Epilepsy |
|
Bilateral tonic-clonic seizure with generalized onset, Atonic seizure, EEG with focal spike waves... |
ORPHA:1942 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Atonic seizure, Focal impaired awareness seizure, Generalized tonic seizure, Myoclonus, Infantile... |
ORPHA:411986 |
Autosomal Dominant Non-Syndromic Intellectual Disability |
|
Status epilepticus, Typical absence seizure, Focal motor seizure, Atonic seizure, Focal impaired ... |
ORPHA:178469 |
Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Atonic seizure, Generalized non-motor (absence) seizure |
OMIM:610293 |
Bilateral Frontoparietal Polymicrogyria |
|
Typical absence seizure, Bilateral tonic-clonic seizure with generalized onset, Atonic seizure, G... |
ORPHA:101070 |
Paroxysmal Exertion-Induced Dyskinesia |
|
Generalized non-motor (absence) seizure, Seizure |
ORPHA:98811 |
Bilateral Generalized Polymicrogyria |
|
Status epilepticus, Typical absence seizure, Focal motor seizure, Atonic seizure, Generalized myo... |
ORPHA:208447 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
EEG with photoparoxysmal response, Typical absence seizure, Cortical myoclonus, Atonic seizure, E... |
ORPHA:168491 |
Clcn4-Related X-Linked Intellectual Disability Syndrome |
|
EEG with focal spikes, Focal impaired awareness seizure, Myoclonus, Infantile spasms, Bilateral t... |
ORPHA:485350 |
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Atypical absence seizure, Focal impaired awareness seizure, Continuous spike and waves during slo... |
OMIM:619428 |
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure |
OMIM:616281 |
Mitochondrial Complex I Deficiency, Nuclear Type 21 |
|
Generalized non-motor (absence) seizure |
OMIM:618242 |
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities |
|
Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Generalized non-motor (absence)... |
OMIM:619854 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15 |
|
Generalized non-motor (absence) seizure |
OMIM:618992 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Generalized non-motor (absence) seizure, Seizure |
OMIM:616033 |
Intellectual Developmental Disorder, Autosomal Recessive 41 |
|
Bilateral tonic-clonic seizure, Generalized-onset seizure, Generalized non-motor (absence) seizure |
OMIM:615637 |
Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Focal impaired awareness seizure, Generalized non-motor (absence) seizure |
OMIM:616521 |
Lafora Disease |
|
Status epilepticus, Atypical absence seizure, Erratic myoclonus, Atonic seizure, Focal impaired a... |
ORPHA:501 |
Intellectual Developmental Disorder, X-Linked 30 |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure |
OMIM:300558 |
Lissencephaly Due To Lis1 Mutation |
|
EEG with changes in voltage, Atypical absence seizure, Focal motor seizure, Atonic seizure, Focal... |
ORPHA:95232 |
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Atypical absence seizure, Bilateral tonic-clonic seizure with generalized onset, EEG abnormality,... |
ORPHA:98795 |
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures |
|
Bilateral tonic-clonic seizure, Multifocal seizures, Generalized non-motor (absence) seizure, Sei... |
OMIM:618170 |
Chromosome Xp11.23-P11.22 Duplication Syndrome |
|
EEG abnormality, Generalized non-motor (absence) seizure |
OMIM:300801 |
Childhood Absence Epilepsy |
|
Typical absence seizure, Limb myoclonus, EEG with spike-wave complexes (2.5-3.5 Hz), Febrile seiz... |
ORPHA:64280 |
Liang-Wang Syndrome |
|
Status epilepticus, Generalized non-motor (absence) seizure |
OMIM:618729 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Eyelid myoclonus, Generalized non-motor (absence) seizure |
OMIM:613839 |
Nicolaides-Baraitser Syndrome |
|
Status epilepticus, Epileptic spasm, Generalized non-motor (absence) seizure, Seizure |
ORPHA:3051 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Focal impaired awareness seizure, Myoclonus, Myoclonic seizure, Bilateral tonic-clonic seizure, G... |
OMIM:617600 |
Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Eating-induced seizure, Myoclonic absence seizure, Generalized-onset seizure |
ORPHA:544254 |
Intellectual Developmental Disorder, Autosomal Dominant 42 |
|
Status epilepticus, Focal impaired awareness seizure, Infantile spasms, EEG with burst suppressio... |
OMIM:616973 |
Satb2-Associated Syndrome Due To A Pathogenic Variant |
|
Typical absence seizure, Seizure |
ORPHA:576283 |
3-Methylglutaconic Aciduria, Type Viia |
|
Atypical absence seizure, Bilateral tonic-clonic seizure, Myoclonic seizure, Generalized-onset se... |
OMIM:619835 |
Early Infantile Epileptic Encephalopathy |
|
EEG abnormality, Atonic seizure, EEG with spike-wave complexes, Generalized tonic seizure, Myoclo... |
ORPHA:1934 |
Myoclonic Epilepsy Of Lafora |
|
Generalized myoclonic seizure, Bilateral tonic-clonic seizure with focal onset, Myoclonus, Focal ... |
OMIM:254780 |
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
EEG abnormality, EEG with frontal sharp slow waves, Generalized myoclonic seizure, Infantile spas... |
ORPHA:457351 |
Kohlschutter-Tonz Syndrome-Like |
|
Status epilepticus, EEG abnormality, EEG with focal spike waves, Generalized tonic seizure, Myocl... |
OMIM:619229 |
X-Linked Non-Syndromic Intellectual Disability |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure |
ORPHA:777 |
Harel-Yoon Syndrome |
|
Generalized non-motor (absence) seizure |
OMIM:617183 |
Intellectual Developmental Disorder, Autosomal Dominant 22 |
|
Agenesis of corpus callosum, Generalized non-motor (absence) seizure, Seizure |
OMIM:612337 |
Intellectual Developmental Disorder, X-Linked 98 |
|
Status epilepticus, Atonic seizure, Tonic seizure, Generalized myoclonic seizure, Infantile spasm... |
OMIM:300912 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type |
|
Status epilepticus, Generalized non-motor (absence) seizure, Tonic seizure, Seizure |
OMIM:300260 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Status epilepticus, Epileptic spasm, Generalized non-motor (absence) seizure, Seizure, Agenesis o... |
ORPHA:96147 |
Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, EE... |
OMIM:617798 |
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) se... |
ORPHA:395 |
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form |
|
Atonic seizure, Generalized myoclonic seizure, Epileptic spasm, Bilateral tonic-clonic seizure, G... |
ORPHA:79351 |
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Agenesis of corpus callosum, Generalized non-motor (absence) seizure, Seizure |
OMIM:617360 |
Angelman Syndrome |
|
Status epilepticus, Atypical absence seizure, EEG abnormality, Atonic seizure, Generalized myoclo... |
ORPHA:72 |
Developmental And Epileptic Encephalopathy 100 |
|
EEG with photoparoxysmal response, Typical absence seizure, Tonic seizure, Myoclonus, Infantile s... |
OMIM:619777 |
3P25.3 Microdeletion Syndrome |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Generalized myoclonic se... |
ORPHA:435638 |
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Bilateral tonic-clonic seizure, Agenesis of corpus callosum, Generalized non-motor (absence) seizure |
OMIM:615802 |
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome |
|
Generalized non-motor (absence) seizure |
ORPHA:363686 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
EEG with spike-wave complexes, Generalized myoclonic seizure, Generalized tonic seizure, Bilatera... |
ORPHA:369837 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Atonic seizure, EEG abnormality, Generalized myoclonic seizure, Myoclonus, Infantile spasms, Gene... |
ORPHA:404454 |
Weaver Syndrome |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure |
OMIM:277590 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Focal-onset seizure, Generalized non-motor (absence) seizure, Seizure |
ORPHA:258 |
Kinsship Syndrome |
|
Myoclonus, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Focal-onset s... |
OMIM:619297 |
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... |
ORPHA:466943 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Generalized non-motor (absence) seizure |
ORPHA:293978 |
Tay-Sachs Disease |
|
Typical absence seizure, Myoclonus, Focal impaired awareness seizure, Seizure |
ORPHA:845 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation |
|
Typical absence seizure, Bilateral tonic-clonic seizure, Simple febrile seizure |
ORPHA:466950 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... |
ORPHA:513456 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Typical absence seizure, Agenesis of corpus callosum, Seizure |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Typical absence seizure, Agenesis of corpus callosum, Seizure |
ORPHA:352665 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Typical absence seizure, Atonic seizure, Generalized myoclonic seizure, Febrile seizure (within t... |
ORPHA:268261 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Status epilepticus, Epileptic spasm, Generalized non-motor (absence) seizure, Seizure |
ORPHA:2636 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Lateral ventricle dilatation, Dysplastic corpus callosum, Generalized-onset seizure, Generalized ... |
ORPHA:500150 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Generalized non-motor (absence) seizure |
ORPHA:77293 |
Sotos Syndrome |
|
Focal impaired awareness seizure, Generalized myoclonic seizure, Bilateral tonic-clonic seizure, ... |
ORPHA:821 |
Carpenter Syndrome 2 |
|
Generalized non-motor (absence) seizure |
OMIM:614976 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Atypical absence seizure, EEG abnormality, Lateral ventricle dilatation, Seizure, Focal-onset sei... |
ORPHA:261537 |
Mowat-Wilson Syndrome |
|
Status epilepticus, Atypical absence seizure, EEG with spike-wave complexes, Focal-onset seizure,... |
ORPHA:2152 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Atypical absence seizure, EEG abnormality, Lateral ventricle dilatation, Seizure, Focal-onset sei... |
ORPHA:261552 |
Alström Syndrome |
|
Typical absence seizure |
ORPHA:64 |