Continuous Spikes And Waves During Sleep |
|
Focal hemiclonic seizure, Typical absence seizure, Bilateral tonic-clonic seizure, Focal clonic s... |
ORPHA:725 |
Dravet Syndrome |
|
Focal hemiclonic seizure, Bilateral tonic-clonic seizure, Myoclonic seizure, Focal impaired aware... |
OMIM:607208 |
Landau-Kleffner Syndrome |
|
Generalized clonic seizure, Non-convulsive status epilepticus without coma, Bilateral tonic-cloni... |
ORPHA:98818 |
Developmental And Epileptic Encephalopathy 9 |
|
Bilateral tonic-clonic seizure, Aggressive behavior, Status epilepticus, Atonic seizure, Focal-on... |
OMIM:300088 |
Severe Primary Trimethylaminuria |
|
Low self esteem, Aggressive behavior, Emotional lability, Negative affectivity, Anxiety, Depression |
ORPHA:468726 |
Female Restricted Epilepsy With Intellectual Disability |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ag... |
ORPHA:101039 |
Lennox-Gastaut Syndrome |
|
Bilateral tonic-clonic seizure, Aggressive behavior, Myoclonus, Personality disorder, Atonic seiz... |
ORPHA:2382 |
Myoclonic Epilepsy Of Infancy |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ag... |
ORPHA:86909 |
Lissencephaly 10 |
|
Febrile seizure (within the age range of 3 months to 6 years), Tonic seizure, Bilateral tonic-clo... |
OMIM:618873 |
Intellectual Developmental Disorder, Autosomal Recessive 66 |
|
Aggressive behavior, Shyness |
OMIM:618221 |
Polymicrogyria, Bilateral Perisylvian, X-Linked |
|
Cognitive impairment, Atypical absence seizure, Bilateral tonic-clonic seizure |
OMIM:300388 |
Myoclonic Epilepsy Of Unverricht And Lundborg |
|
Dementia, Bilateral tonic-clonic seizure, Myoclonus, Mental deterioration, Generalized non-motor ... |
OMIM:254800 |
Generalized Epilepsy With Febrile Seizures-Plus |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Co... |
ORPHA:36387 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 15 |
|
Bilateral tonic-clonic seizure, Aggressive behavior, Myoclonus, Seizure, Eyelid myoclonus, Genera... |
OMIM:618357 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Abnormal social behavior, EEG abnormality |
ORPHA:436151 |
Juvenile Myoclonic Epilepsy |
|
Febrile seizure (within the age range of 3 months to 6 years), Morning myoclonic jerks, Aggressiv... |
ORPHA:307 |
Epilepsy, Familial Temporal Lobe, 1 |
|
Focal sensory seizure with visual features, Focal sensory seizure with olfactory features, Bilate... |
OMIM:600512 |
Early-Onset Schizophrenia |
|
Shyness, No social interaction, Unhappy demeanor, Low self esteem, Suicidal ideation, Lack of pee... |
ORPHA:96369 |
Generalized Epilepsy With Febrile Seizures Plus, Type 2 |
|
Focal hemiclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilatera... |
OMIM:604403 |
Benign Familial Infantile Epilepsy |
|
Generalized clonic seizure, Limb myoclonus, Bilateral tonic-clonic seizure, Focal clonic seizure,... |
ORPHA:306 |
Developmental And Epileptic Encephalopathy 94 |
|
Febrile seizure (within the age range of 3 months to 6 years), Tonic seizure, Bilateral tonic-clo... |
OMIM:615369 |
Epilepsy, Juvenile Absence, Susceptibility To, 1 |
|
Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic se... |
OMIM:607631 |
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures |
|
Bilateral tonic-clonic seizure, Myoclonic seizure, Focal impaired awareness seizure, Seizure, Gen... |
OMIM:617831 |
Developmental And Epileptic Encephalopathy 26 |
|
Infantile spasms, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Bilateral ton... |
OMIM:616056 |
Generalized Epilepsy With Febrile Seizures Plus, Type 9 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo... |
OMIM:616172 |
Epilepsy, Idiopathic Generalized |
|
Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic se... |
OMIM:600669 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 14 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Se... |
OMIM:616685 |
Developmental And Epileptic Encephalopathy 19 |
|
Focal hemiclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Myocloni... |
OMIM:615744 |
Epilepsy, Myoclonic Juvenile |
|
Status epilepticus, Generalized non-motor (absence) seizure, Morning myoclonic jerks, Bilateral t... |
OMIM:254770 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 11 |
|
Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic se... |
OMIM:607628 |
Jeavons Syndrome |
|
Febrile seizure (within the age range of 3 months to 6 years), Limb myoclonus, Bilateral tonic-cl... |
ORPHA:139431 |
Perioral Myoclonia With Absences |
|
Bilateral tonic-clonic seizure, Chin myoclonus, Focal seizure with eyelid myoclonia, Generalized ... |
ORPHA:139426 |
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10 |
|
Seizure, Generalized myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 ye... |
OMIM:617924 |
Dravet Syndrome |
|
Generalized clonic seizure, Focal hemiclonic seizure, Photosensitive myoclonic seizure, Febrile s... |
ORPHA:33069 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 16 |
|
Myoclonic seizure, Atypical absence seizure, Myoclonic absence seizure |
OMIM:618596 |
Epilepsy, Familial Temporal Lobe, 8 |
|
Focal aware autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal ph... |
OMIM:616461 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Myoclonic status epilepticus, Limb myoclonus, Typical absence seizure, Myoclonus, Seizure, Eyelid... |
ORPHA:2590 |
Hereditary Geniospasm |
|
Abnormal social behavior |
ORPHA:53372 |
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy |
|
Bilateral tonic-clonic seizure, Aggressive behavior, Myoclonic seizure, Seizure, Focal-onset seiz... |
OMIM:619157 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 10 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo... |
OMIM:613060 |
Generalized Epilepsy With Febrile Seizures Plus, Type 7 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... |
OMIM:613863 |
Rolandic Epilepsy |
|
Febrile seizure (within the age range of 3 months to 6 years), Focal hemifacial clonic seizure, A... |
ORPHA:1945 |
Obsessive-Compulsive Disorder |
|
Skin-picking, Anxiety, Depression |
OMIM:164230 |
Developmental And Epileptic Encephalopathy 57 |
|
Seizure, Generalized myoclonic seizure, Atypical absence seizure |
OMIM:617771 |
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Absence seizure with eyelid myoclonia, Bilateral tonic-clonic seizure, Myoclonus, Focal impaired ... |
OMIM:618587 |
Succinic Semialdehyde Dehydrogenase Deficiency |
|
Bilateral tonic-clonic seizure, Self-injurious behavior, Aggressive behavior, Seizure, Status epi... |
OMIM:271980 |
Generalized Epilepsy With Febrile Seizures Plus, Type 1 |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (absence) se... |
OMIM:604233 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 9 |
|
Generalized non-motor (absence) seizure, Morning myoclonic jerks, Bilateral tonic-clonic seizure ... |
OMIM:607682 |
Intellectual Developmental Disorder With Seizures And Language Delay |
|
Anxiety, Myoclonic seizure, Bilateral tonic-clonic seizure, Myoclonic absence seizure |
OMIM:619000 |
Isolated Focal Cortical Dysplasia |
|
Infantile spasms, Nocturnal seizures, Cognitive impairment, Focal impaired awareness seizure, Sei... |
ORPHA:65683 |
Juvenile Absence Epilepsy |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, My... |
ORPHA:1941 |
Intellectual Developmental Disorder, X-Linked 100 |
|
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure |
OMIM:300923 |
Paroxysmal Exertion-Induced Dyskinesia |
|
Seizure, Aggressive behavior, Irritability, Generalized non-motor (absence) seizure |
ORPHA:98811 |
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant |
|
Mental deterioration, Irritability, Focal impaired awareness seizure, Bilateral tonic-clonic seizure |
OMIM:610003 |
Clcn4-Related X-Linked Intellectual Disability Syndrome |
|
Bilateral tonic-clonic seizure, Infantile spasms, Self-injurious behavior, Focal tonic seizure, A... |
ORPHA:485350 |
Epilepsy, Progressive Myoclonic, 6 |
|
Seizure, Myoclonus, Generalized non-motor (absence) seizure, Atonic seizure |
OMIM:614018 |
Generalized Epilepsy With Febrile Seizures Plus, Type 10 |
|
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (ab... |
OMIM:618482 |
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy |
|
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure |
OMIM:609446 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
No social interaction, Aggressive behavior, Impaired social interactions |
ORPHA:329249 |
Autosomal Dominant Non-Syndromic Intellectual Disability |
|
Typical absence seizure, Bilateral tonic-clonic seizure, Self-injurious behavior, Focal emotional... |
ORPHA:178469 |
Intellectual Developmental Disorder, X-Linked 41 |
|
Generalized non-motor (absence) seizure |
OMIM:300849 |
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome |
|
Generalized-onset seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure |
ORPHA:79137 |
Developmental And Epileptic Encephalopathy 6B |
|
Focal hemiclonic seizure, Generalized non-motor (absence) seizure, Tonic seizure, Bilateral tonic... |
OMIM:619317 |
Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Overfriendliness, Aggressive behavior |
OMIM:618010 |
Epilepsy, Childhood Absence, Susceptibility To, 1 |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (absence) se... |
OMIM:600131 |
Febrile Seizures, Familial, 8 |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (absence) se... |
OMIM:607681 |
Pachygyria With Mental Retardation, Seizures, And Arachnoid Cysts |
|
Atypical absence seizure, Bilateral tonic-clonic seizure |
OMIM:600176 |
Bilateral Generalized Polymicrogyria |
|
Typical absence seizure, Bilateral tonic-clonic seizure, Infantile spasms, Self-injurious behavio... |
ORPHA:208447 |
Developmental And Epileptic Encephalopathy 18 |
|
Generalized-onset seizure, Generalized non-motor (absence) seizure, Focal-onset seizure |
OMIM:615476 |
Polymicrogyria, Bilateral Temporooccipital |
|
Seizure, Status epilepticus, Aggressive behavior, Focal impaired awareness seizure |
OMIM:612691 |
Developmental And Epileptic Encephalopathy 52 |
|
Focal hemiclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Seizure,... |
OMIM:617350 |
Epilepsy, Childhood Absence, Susceptibility To, 5 |
|
Generalized non-motor (absence) seizure |
OMIM:612269 |
Febrile Seizures, Familial, 9 |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (absence) se... |
OMIM:611634 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Dementia, Typical absence seizure, Motor deterioration, Bilateral tonic-clonic seizure, Focal ton... |
ORPHA:168491 |
Autosomal Dominant Epilepsy With Auditory Features |
|
Bilateral tonic-clonic seizure, Nocturnal seizures, Bilateral tonic-clonic seizure with focal ons... |
ORPHA:101046 |
Myoclonic-Atonic Epilepsy |
|
Eyelid myoclonus, Generalized non-motor (absence) seizure |
OMIM:616421 |
Pyridoxine-Dependent Epilepsy |
|
Bilateral tonic-clonic seizure, Early onset absence seizures, Seizure, Status epilepticus, Irrita... |
ORPHA:3006 |
Lafora Disease |
|
Dementia, Bilateral tonic-clonic seizure, Myoclonus, Focal impaired awareness seizure, Seizure, A... |
ORPHA:501 |
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, X-Linked 30 |
|
Bilateral tonic-clonic seizure, Aggressive behavior, Seizure, Anxiety, Generalized non-motor (abs... |
OMIM:300558 |
Autism Spectrum Disorder-Epilepsy-Arthrogryposis Syndrome |
|
Generalized non-motor (absence) seizure |
ORPHA:370943 |
Neurodevelopmental Disorder With Hearing Loss And Spasticity |
|
Infantile spasms, Bilateral tonic-clonic seizure, Myoclonic seizure, Seizure, Focal-onset seizure... |
OMIM:619616 |
Hyperinsulinism-Hyperammonemia Syndrome |
|
Generalized-onset seizure, Generalized non-motor (absence) seizure |
ORPHA:35878 |
Bilateral Frontoparietal Polymicrogyria |
|
Typical absence seizure, Seizure, Bilateral tonic-clonic seizure with generalized onset, Atonic s... |
ORPHA:101070 |
Epilepsy, Familial Temporal Lobe, 3 |
|
Deja vu aura, Bilateral tonic-clonic seizure with focal onset, Focal impaired awareness seizure |
OMIM:611630 |
Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Seizure, Generalized non-motor (absence) seizure, Atonic seizure |
OMIM:610293 |
Cataracts, Spastic Paraparesis, And Speech Delay |
|
Generalized non-motor (absence) seizure, Focal motor seizure, Bilateral tonic-clonic seizure, Com... |
OMIM:619338 |
Myoclonic Epilepsy Of Lafora |
|
Dementia, Bilateral tonic-clonic seizure, Myoclonus, Progressive neurologic deterioration, Bilate... |
OMIM:254780 |
Chromosome Xp11.23-P11.22 Duplication Syndrome |
|
Shyness, EEG abnormality |
OMIM:300801 |
Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Myoclonic absence seizure |
OMIM:617836 |
Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
Myoclonic seizure, Generalized non-motor (absence) seizure, Atonic seizure, Bilateral tonic-cloni... |
OMIM:617810 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Infantile spasms, Myoclonus, Focal impaired awareness seizure, Atonic seizure, Generalized tonic ... |
ORPHA:411986 |
Myoclonic-Astatic Epilepsy |
|
Bilateral tonic-clonic seizure with generalized onset, Atonic seizure, Simple febrile seizure, Ge... |
ORPHA:1942 |
Childhood Absence Epilepsy |
|
Febrile seizure (within the age range of 3 months to 6 years), Limb myoclonus, Typical absence se... |
ORPHA:64280 |
Childhood Disintegrative Disorder |
|
Dementia, Motor deterioration, Social and occupational deterioration, Seizure, Mental deteriorati... |
ORPHA:168782 |
Developmental And Epileptic Encephalopathy 67 |
|
Seizure, Generalized myoclonic seizure, Generalized non-motor (absence) seizure |
OMIM:618141 |
Epilepsy, Familial Temporal Lobe, 5 |
|
Focal aware seizure, Visually-induced seizure, Focal impaired awareness seizure, Bilateral tonic-... |
OMIM:614417 |
Mitochondrial Complex I Deficiency, Nuclear Type 21 |
|
Generalized non-motor (absence) seizure |
OMIM:618242 |
Epilepsy, Familial Temporal Lobe, 4 |
|
Focal aware seizure, Focal sensory seizure with visual features, Focal impaired awareness seizure |
OMIM:611631 |
Familial Focal Epilepsy With Variable Foci |
|
Simple febrile seizure, Bilateral tonic-clonic seizure, Nocturnal seizures, Infantile spasms, Dej... |
ORPHA:98820 |
Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis |
|
Anxiety, Generalized-onset seizure, Focal-onset seizure |
OMIM:602066 |
Pandas |
|
Abnormal fear/anxiety-related behavior, Agoraphobia, Claustrophobia, Irritability, Emotional labi... |
ORPHA:66624 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15 |
|
Generalized non-motor (absence) seizure |
OMIM:618992 |
Hyperprolinemia Type 2 |
|
Febrile seizure (within the age range of 3 months to 6 years), Aggressive behavior, Early onset a... |
ORPHA:79101 |
Rasmussen Subacute Encephalitis |
|
Generalized convulsive status epilepticus, Cognitive impairment, Focal impaired awareness seizure... |
ORPHA:1929 |
Satb2-Associated Syndrome Due To A Pathogenic Variant |
|
Seizure, Happy demeanor, Typical absence seizure |
ORPHA:576283 |
Unilateral Focal Polymicrogyria |
|
Aggressive behavior, Focal impaired awareness seizure, Focal motor seizure, Seizure, Bilateral to... |
ORPHA:268947 |
Liang-Wang Syndrome |
|
Status epilepticus, Generalized non-motor (absence) seizure |
OMIM:618729 |
Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Myoclonic absence seizure, Generalized-onset seizure, Eating-induced seizure |
ORPHA:544254 |
Nicolaides-Baraitser Syndrome |
|
Seizure, Status epilepticus, Generalized non-motor (absence) seizure, Epileptic spasm |
ORPHA:3051 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Eyelid myoclonus, Generalized non-motor (absence) seizure |
OMIM:613839 |
Seizures, Benign Familial Infantile, 1 |
|
Bilateral tonic-clonic seizure with focal onset, Focal impaired awareness seizure, Focal-onset se... |
OMIM:601764 |
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form |
|
Inappropriate crying, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure, Fo... |
ORPHA:79351 |
Harel-Yoon Syndrome |
|
Generalized non-motor (absence) seizure |
OMIM:617183 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type |
|
Tonic seizure, Seizure, Status epilepticus, Hostility, Anxiety, Depression, Generalized non-motor... |
OMIM:300260 |
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Bilateral tonic-clonic seizure, Cognitive impairment, Seizure, Focal-onset seizure, Mental deteri... |
ORPHA:395 |
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Bilateral tonic-clonic seizure, Tonic seizure, Infantile spasms, Focal impaired awareness seizure... |
OMIM:619428 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Generalized non-motor (absence) seizure, Apathy, Seizure, Status epilepticus, Irritability, Anxie... |
ORPHA:96147 |
Angelman Syndrome |
|
Happy demeanor, Bilateral tonic-clonic seizure, Infantile spasms, Self-injurious behavior, Aggres... |
ORPHA:72 |
Epilepsy, Familial Temporal Lobe, 6 |
|
Febrile seizure (within the age range of 3 months to 6 years), Focal impaired awareness seizure, ... |
OMIM:615697 |
Seizures, Benign Familial Infantile, 2 |
|
Generalized-onset seizure, Focal-onset seizure |
OMIM:605751 |
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome |
|
Self-mutilation, Low frustration tolerance, Generalized non-motor (absence) seizure, Inappropriat... |
ORPHA:363686 |
Intellectual Developmental Disorder, X-Linked 98 |
|
Bilateral tonic-clonic seizure, Tonic seizure, Self-biting, Infantile spasms, Aggressive behavior... |
OMIM:300912 |
Lissencephaly Due To Lis1 Mutation |
|
Infantile spasms, Focal impaired awareness seizure, Focal motor seizure, Seizure, Atonic seizure,... |
ORPHA:95232 |
X-Linked Non-Syndromic Intellectual Disability |
|
Seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure |
ORPHA:777 |
Epilepsy, Familial Temporal Lobe, 2 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fe... |
OMIM:608096 |
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Infantile spasms, Bilateral tonic-clonic seizure, Self-injurious behavior, Seizure, Generalized m... |
ORPHA:457351 |
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Seizure, Bilateral tonic-clonic seizure with generalized onset, Atypical absence seizure, Bilater... |
ORPHA:98795 |
Kohlschutter-Tonz Syndrome-Like |
|
Nocturnal seizures, Myoclonus, Seizure, Status epilepticus, Focal-onset seizure, Focal myoclonic ... |
OMIM:619229 |
3P25.3 Microdeletion Syndrome |
|
Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic se... |
ORPHA:435638 |
Tay-Sachs Disease |
|
Typical absence seizure, Myoclonus, Focal impaired awareness seizure, Seizure, Anxiety, Depressio... |
ORPHA:845 |
Early Infantile Epileptic Encephalopathy |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, In... |
ORPHA:1934 |
Dpm1-Cdg |
|
Early onset absence seizures, Seizure, Atonic seizure, Generalized myoclonic seizure, Generalized... |
ORPHA:79322 |
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Inappropriate laughter |
OMIM:615802 |
Pitt-Hopkins-Like Syndrome 1 |
|
Aggressive behavior, Seizure, Generalized-onset seizure, Focal-onset seizure, Progressive languag... |
OMIM:610042 |
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, Se... |
ORPHA:466943 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Seizure, Cognitive impairment, Generalized non-motor (absence) seizure, Focal-onset seizure |
ORPHA:258 |
Metachromatic Leukodystrophy, Late Infantile Form |
|
Abnormal social behavior, Emotional lability, Decreased nerve conduction velocity |
ORPHA:309256 |
Metachromatic Leukodystrophy, Juvenile Form |
|
Abnormal social behavior, Emotional lability, Decreased nerve conduction velocity |
ORPHA:309263 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation |
|
Typical absence seizure, Bilateral tonic-clonic seizure, Self-injurious behavior, Borderline pers... |
ORPHA:466950 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Infantile spasms, Focal tonic seizure, Focal emotional seizure with laughing, Myoclonus, Atonic s... |
ORPHA:404454 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Generalized myoclonic seizure, Generalized tonic seizure, Generalized non-motor (absence) seizure... |
ORPHA:369837 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Generalized non-motor (absence) seizure |
ORPHA:293978 |
Kinsship Syndrome |
|
Myoclonus, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure, Focal-onset s... |
OMIM:619297 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Febrile seizure (within the age range of 3 months to 6 years), Typical absence seizure, Bilateral... |
ORPHA:268261 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (ab... |
ORPHA:513456 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Seizure, Typical absence seizure |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Seizure, Typical absence seizure |
ORPHA:352665 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Seizure, Status epilepticus, Generalized non-motor (absence) seizure, Epileptic spasm |
ORPHA:2636 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Depression, Generalized non-motor (absence) seizure, Bipolar affective disorder |
ORPHA:77293 |
Sotos Syndrome |
|
Bilateral tonic-clonic seizure, Aggressive behavior, Focal impaired awareness seizure, Seizure, A... |
ORPHA:821 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Generalized-onset seizure, Generalized non-motor (absence) seizure |
ORPHA:500150 |
Mowat-Wilson Syndrome |
|
Happy demeanor, Oligomenorrhea, Chordee, Seizure, Status epilepticus, Focal-onset seizure, Anxiet... |
ORPHA:2152 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Happy demeanor, Chordee, Seizure, Focal-onset seizure, Atypical absence seizure |
ORPHA:261537 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
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Happy demeanor, Chordee, Seizure, Focal-onset seizure, Atypical absence seizure |
ORPHA:261552 |
Alström Syndrome |
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Oligospermia, Typical absence seizure, Cognitive impairment, Hypergonadotropic hypogonadism, Irre... |
ORPHA:64 |
1P36 Deletion Syndrome |
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Self-injurious behavior, EEG abnormality |
ORPHA:1606 |