Intellectual Developmental Disorder, Autosomal Recessive 25 |
|
Delayed speech and language development, Anxiety |
OMIM:614346 |
Intellectual Developmental Disorder, X-Linked 63 |
|
Delayed speech and language development, Anxiety |
OMIM:300387 |
Dravet Syndrome |
|
Myoclonic seizure, Generalized clonic seizure, Focal aware seizure, Generalized myoclonic seizure... |
OMIM:607208 |
Continuous Spikes And Waves During Sleep |
|
Aggressive behavior, Typical absence seizure, Seizure, Focal motor seizure, Cognitive impairment,... |
ORPHA:725 |
Developmental And Epileptic Encephalopathy 9 |
|
Aggressive behavior, Focal-onset seizure, Generalized myoclonic seizure, Status epilepticus, Foca... |
OMIM:300088 |
Lennox-Gastaut Syndrome |
|
Aggressive behavior, Generalized tonic seizure, Focal-onset seizure, Myoclonus, Generalized myocl... |
ORPHA:2382 |
Benign Familial Infantile Epilepsy |
|
Bilateral tonic-clonic seizure with focal onset, Generalized clonic seizure, Generalized tonic se... |
ORPHA:306 |
Severe Primary Trimethylaminuria |
|
Aggressive behavior, Anxiety, Emotional lability, Low self esteem, Depression, Negative affectivity |
ORPHA:468726 |
Landau-Kleffner Syndrome |
|
Generalized clonic seizure, Aggressive behavior, Social and occupational deterioration, Seizure, ... |
ORPHA:98818 |
Myoclonic Epilepsy Of Infancy |
|
Febrile seizure (within the age range of 3 months to 6 years), Aggressive behavior, Myoclonus, Ge... |
ORPHA:86909 |
Lissencephaly 10 |
|
Myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic... |
OMIM:618873 |
Female Restricted Epilepsy With Intellectual Disability |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized clonic seizure, Aggres... |
ORPHA:101039 |
Epilepsy, Familial Temporal Lobe, 1 |
|
Bilateral tonic-clonic seizure with focal onset, Focal autonomic seizure with palpitations/tachyc... |
OMIM:600512 |
Myoclonic Epilepsy Of Unverricht And Lundborg |
|
Myoclonus, Dementia, Bilateral tonic-clonic seizure, Mental deterioration, Generalized non-motor ... |
OMIM:254800 |
Juvenile Myoclonic Epilepsy |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized-onset seizure, Aggress... |
ORPHA:307 |
Polymicrogyria, Bilateral Perisylvian, X-Linked |
|
Cognitive impairment, Bilateral tonic-clonic seizure, Atypical absence seizure |
OMIM:300388 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 15 |
|
Aggressive behavior, Seizure, Eyelid myoclonus, Myoclonus, Bilateral tonic-clonic seizure, Genera... |
OMIM:618357 |
Generalized Epilepsy With Febrile Seizures-Plus |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized-onset seizure, Cogniti... |
ORPHA:36387 |
Generalized Epilepsy With Febrile Seizures Plus, Type 2 |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Focal-o... |
OMIM:604403 |
Lipoid Proteinosis Of Urbach And Wiethe |
|
Aggressive behavior, Memory impairment, Seizure, Generalized non-motor (absence) seizure |
OMIM:247100 |
Epilepsy, Progressive Myoclonic, 6 |
|
Myoclonus, Myoclonic status epilepticus, Bilateral tonic-clonic seizure, Atonic seizure, Memory i... |
OMIM:614018 |
Developmental And Epileptic Encephalopathy 74 |
|
Myoclonic seizure, Typical absence seizure, Tonic seizure, Bilateral tonic-clonic seizure, Atonic... |
OMIM:618396 |
Developmental And Epileptic Encephalopathy 94 |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized myoclonic seizure, Sta... |
OMIM:615369 |
Generalized Epilepsy With Febrile Seizures Plus, Type 9 |
|
Febrile seizure (within the age range of 3 months to 6 years), Tonic seizure, Bilateral tonic-clo... |
OMIM:616172 |
Early-Onset Schizophrenia |
|
Diminished motivation, Abnormal emotion/affect behavior, Shyness, Suicidal ideation, Lack of peer... |
ORPHA:96369 |
Epilepsy, Juvenile Absence, Susceptibility To, 1 |
|
Generalized myoclonic seizure, Bilateral tonic-clonic seizure on awakening, Generalized non-motor... |
OMIM:607631 |
Epilepsy, Familial Temporal Lobe, 8 |
|
Bilateral tonic-clonic seizure with focal onset, Deja vu aura, Focal aware sensory seizure with a... |
OMIM:616461 |
Epilepsy, Idiopathic Generalized |
|
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Generalized non-motor (absence) se... |
OMIM:600669 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 9 |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Typical... |
OMIM:607682 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 14 |
|
Febrile seizure (within the age range of 3 months to 6 years), Seizure, Generalized myoclonic sei... |
OMIM:616685 |
Epilepsy, Myoclonic Juvenile |
|
Bilateral tonic-clonic seizure, Status epilepticus, Morning myoclonic jerks, Generalized non-moto... |
OMIM:254770 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 11 |
|
Generalized myoclonic seizure, Bilateral tonic-clonic seizure on awakening, Generalized non-motor... |
OMIM:607628 |
Developmental And Epileptic Encephalopathy 26 |
|
Bilateral tonic-clonic seizure with focal onset, Bilateral tonic-clonic seizure, Atonic seizure, ... |
OMIM:616056 |
Developmental And Epileptic Encephalopathy 19 |
|
Febrile seizure (within the age range of 3 months to 6 years), Myoclonic seizure, Status epilepti... |
OMIM:615744 |
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures |
|
Myoclonic seizure, Seizure, Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Focal ... |
OMIM:617831 |
Perioral Myoclonia With Absences |
|
Chin myoclonus, Focal seizure with eyelid myoclonia, Generalized myoclonic seizure, Bilateral ton... |
ORPHA:139426 |
Jeavons Syndrome |
|
Febrile seizure (within the age range of 3 months to 6 years), Limb myoclonus, Generalized tonic ... |
ORPHA:139431 |
Developmental And Epileptic Encephalopathy 33 |
|
Myoclonic seizure, Aggressive behavior, Typical absence seizure, Seizure, Bilateral tonic-clonic ... |
OMIM:616409 |
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy |
|
Seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure with generalized... |
OMIM:609446 |
Developmental And Epileptic Encephalopathy 108 |
|
Bilateral tonic-clonic seizure with focal onset, Myoclonic seizure, Focal motor status epilepticu... |
OMIM:620115 |
Developmental And Epileptic Encephalopathy 57 |
|
Seizure, Generalized myoclonic seizure, Tonic seizure, Epileptic spasm, Atypical absence seizure |
OMIM:617771 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 16 |
|
Myoclonic seizure, Atypical absence seizure, Myoclonic absence seizure |
OMIM:618596 |
Isolated Focal Cortical Dysplasia |
|
Bilateral tonic-clonic seizure with focal onset, Generalized-onset seizure, Cognitive impairment,... |
ORPHA:65683 |
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Aggressive behavior, Self-injurious behavior, Absent speech, Anxiety |
OMIM:619031 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 10 |
|
Febrile seizure (within the age range of 3 months to 6 years), Focal-onset seizure, Generalized m... |
OMIM:613060 |
Developmental And Epileptic Encephalopathy 13 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure wit... |
OMIM:614558 |
Generalized Epilepsy With Febrile Seizures Plus, Type 7 |
|
Febrile seizure (within the age range of 3 months to 6 years), Focal-onset seizure, Bilateral ton... |
OMIM:613863 |
Developmental And Epileptic Encephalopathy 56 |
|
Myoclonic seizure, Focal motor seizure, Seizure, Status epilepticus, Anxiety, Generalized non-mot... |
OMIM:617665 |
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy |
|
Myoclonic seizure, Aggressive behavior, Seizure, Focal-onset seizure, Bilateral tonic-clonic seiz... |
OMIM:619157 |
Dravet Syndrome |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized clonic seizure, Epilep... |
ORPHA:33069 |
Rolandic Epilepsy |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure wit... |
ORPHA:1945 |
Developmental And Epileptic Encephalopathy 54 |
|
Seizure, Myoclonus, Status epilepticus without prominent motor symptoms, Tonic seizure, Bilateral... |
OMIM:617391 |
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Absence seizure with eyelid myoclonia, Myoclonus, Generalized myoclonic-atonic seizure, Bilateral... |
OMIM:618587 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Limb myoclonus, Typical absence seizure, Seizure, Eyelid myoclonus, Myoclonus, Generalized myoclo... |
ORPHA:2590 |
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 |
|
Febrile seizure (within the age range of 3 months to 6 years), Myoclonic seizure, Focal-onset sei... |
OMIM:615871 |
Juvenile Absence Epilepsy |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized-onset seizure, Myoclon... |
ORPHA:1941 |
Succinic Semialdehyde Dehydrogenase Deficiency |
|
Aggressive behavior, Seizure, Self-injurious behavior, Generalized myoclonic seizure, Status epil... |
OMIM:271980 |
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10 |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized myoclonic seizure, Gen... |
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 |
Myoclonic-Atonic Epilepsy |
|
Myoclonic seizure, Eyelid myoclonus, Generalized myoclonic-atonic seizure, Atonic seizure, Genera... |
OMIM:616421 |
Obsessive-Compulsive Disorder |
|
Skin-picking, Depression, Anxiety |
OMIM:164230 |
Intellectual Developmental Disorder With Seizures And Language Delay |
|
Increased theta frequency activity in EEG, EEG with polyspike wave complexes, Delayed speech and ... |
OMIM:619000 |
Intellectual Developmental Disorder, X-Linked 9 |
|
Delayed speech and language development, Aggressive behavior, Anxiety |
OMIM:309549 |
Intellectual Developmental Disorder, X-Linked 100 |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure |
OMIM:300923 |
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant |
|
Bilateral tonic-clonic seizure, Irritability, Focal impaired awareness seizure, Mental deterioration |
OMIM:610003 |
Paroxysmal Exertion-Induced Dyskinesia |
|
Aggressive behavior, Seizure, Irritability, Generalized non-motor (absence) seizure |
ORPHA:98811 |
Developmental And Epileptic Encephalopathy 67 |
|
Generalized myoclonic seizure, Focal hemiclonic seizure, Tonic seizure, Bilateral tonic-clonic se... |
OMIM:618141 |
Clcn4-Related X-Linked Intellectual Disability Syndrome |
|
Aggressive behavior, Self-injurious behavior, Seizure, Bipolar affective disorder, Myoclonus, Foc... |
ORPHA:485350 |
Developmental And Epileptic Encephalopathy 99 |
|
Focal-onset seizure, Eyelid myoclonus, Status epilepticus, Focal hemiclonic seizure, Tonic seizur... |
OMIM:619606 |
Developmental And Epileptic Encephalopathy 43 |
|
Myoclonic seizure, Bilateral tonic-clonic seizure, Atonic seizure, Infantile spasms, Atypical abs... |
OMIM:617113 |
Generalized Epilepsy With Febrile Seizures Plus, Type 10 |
|
Febrile seizure (within the age range of 3 months to 6 years), Seizure, Generalized non-motor (ab... |
OMIM:618482 |
Intellectual Developmental Disorder, X-Linked 41 |
|
Generalized non-motor (absence) seizure |
OMIM:300849 |
Developmental And Epileptic Encephalopathy 6B |
|
Myoclonic seizure, Focal-onset seizure, Myoclonus, Status epilepticus without prominent motor sym... |
OMIM:619317 |
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome |
|
Bilateral tonic-clonic seizure, Generalized-onset seizure, Generalized non-motor (absence) seizure |
ORPHA:79137 |
Leukoencephalopathy, Motor Delay, Spasticity, And Dysarthria Syndrome |
|
Delayed speech and language development, Anxiety |
OMIM:618878 |
Bilateral Generalized Polymicrogyria |
|
Focal emotional seizure with laughing, Generalized-onset seizure, Generalized tonic seizure, Typi... |
ORPHA:208447 |
Developmental And Epileptic Encephalopathy 52 |
|
Febrile seizure (within the age range of 3 months to 6 years), Seizure, Generalized myoclonic sei... |
OMIM:617350 |
Epilepsy, Childhood Absence, Susceptibility To, 1 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... |
OMIM:600131 |
Febrile Seizures, Familial, 8 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... |
OMIM:607681 |
Intellectual Developmental Disorder, Autosomal Recessive 41 |
|
Generalized-onset seizure, Self-injurious behavior, Bilateral tonic-clonic seizure, Anxiety, Gene... |
OMIM:615637 |
Pachygyria With Impaired Intellectual Development, Seizures, And Arachnoid Cysts |
|
Bilateral tonic-clonic seizure, Atypical absence seizure |
OMIM:600176 |
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 |
Developmental And Epileptic Encephalopathy 91 |
|
Myoclonic seizure, Seizure, Focal motor seizure, Status epilepticus, Tonic seizure, Bilateral ton... |
OMIM:617711 |
Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Aggressive behavior, Focal impaired awareness seizure, Self-mutilation, Generalized non-motor (ab... |
OMIM:616521 |
Episodic Ataxia, Type 5 |
|
Febrile seizure (within the age range of 3 months to 6 years), Typical absence seizure, Myoclonus... |
OMIM:613855 |
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 |
Lafora Disease |
|
Bilateral tonic-clonic seizure with focal onset, Erratic myoclonus, Seizure, Focal-onset seizure,... |
ORPHA:501 |
Autism Spectrum Disorder-Epilepsy-Arthrogryposis Syndrome |
|
Generalized non-motor (absence) seizure |
ORPHA:370943 |
Pyridoxine-Dependent Epilepsy |
|
Seizure, Focal-onset seizure, Status epilepticus, Early onset absence seizures, Atonic seizure, E... |
ORPHA:3006 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Myoclonic seizure, Cortical myoclonus, Aggressive behavior, Typical absence seizure, Seizure, Foc... |
ORPHA:168491 |
Neurodevelopmental Disorder With Hearing Loss And Spasticity |
|
Myoclonic seizure, Seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, Infantile spasms... |
OMIM:619616 |
Intellectual Developmental Disorder, Autosomal Dominant 5 |
|
Bilateral tonic-clonic seizure, Seizure, Myoclonic absence seizure |
OMIM:612621 |
Developmental And Epileptic Encephalopathy 109 |
|
Myoclonic seizure, Typical absence seizure, Myoclonus, Focal hemiclonic seizure, Tonic seizure, B... |
OMIM:620145 |
Developmental And Epileptic Encephalopathy 18 |
|
Bilateral tonic-clonic seizure with focal onset, Generalized-onset seizure, Focal-onset seizure, ... |
OMIM:615476 |
Autosomal Dominant Epilepsy With Auditory Features |
|
Bilateral tonic-clonic seizure with focal onset, Generalized-onset seizure, Focal-onset seizure, ... |
ORPHA:101046 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Seizure, Generalized non-motor (absence) seizure, Primary amenorrhea |
OMIM:616033 |
Arthrogryposis, Impaired Intellectual Development, And Seizures |
|
Focal motor seizure, Generalized non-motor (absence) seizure |
OMIM:615553 |
Bilateral Frontoparietal Polymicrogyria |
|
Typical absence seizure, Seizure, Generalized myoclonic seizure, Atonic seizure, Bilateral tonic-... |
ORPHA:101070 |
Hyperinsulinism-Hyperammonemia Syndrome |
|
Generalized-onset seizure, Generalized non-motor (absence) seizure |
ORPHA:35878 |
Intellectual Developmental Disorder, X-Linked 30 |
|
Aggressive behavior, Seizure, Bilateral tonic-clonic seizure, Anxiety, Generalized non-motor (abs... |
OMIM:300558 |
Obesity, Hyperphagia, And Developmental Delay |
|
Seizure, Generalized non-motor (absence) seizure |
OMIM:613886 |
Cataracts, Spastic Paraparesis, And Speech Delay |
|
Bilateral tonic-clonic seizure, Complex febrile seizure, Focal motor seizure, Generalized non-mot... |
OMIM:619338 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Delayed speech and language development, Emotional lability |
OMIM:617028 |
Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
Myoclonic seizure, Bilateral tonic-clonic seizure, Atonic seizure, Generalized non-motor (absence... |
OMIM:617810 |
Myoclonic Epilepsy Of Lafora |
|
Bilateral tonic-clonic seizure with focal onset, Focal sensory seizure with visual features, Myoc... |
OMIM:254780 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Generalized tonic seizure, Myoclonus, Atonic seizure, Focal impaired awareness seizure, Infantile... |
ORPHA:411986 |
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 |
|
Abnormal emotion/affect behavior, Social and occupational deterioration, Seizure, Motor deteriora... |
ORPHA:168782 |
Myoclonic-Astatic Epilepsy |
|
Abnormal emotion/affect behavior, Focal-onset seizure, Generalized myoclonic seizure, Generalized... |
ORPHA:1942 |
Developmental And Epileptic Encephalopathy 103 |
|
Myoclonic seizure, Eyelid myoclonus, Tonic seizure, Bilateral tonic-clonic seizure, Atonic seizur... |
OMIM:619913 |
Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Myoclonic absence seizure |
OMIM:617836 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Myoclonic seizure, Myoclonus, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, A... |
OMIM:617600 |
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities |
|
Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Seizure, Generalized non-motor ... |
OMIM:619854 |
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly |
|
Bilateral tonic-clonic seizure, Seizure, Generalized non-motor (absence) seizure |
OMIM:616281 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15 |
|
Generalized non-motor (absence) seizure |
OMIM:618992 |
Mitochondrial Complex I Deficiency, Nuclear Type 21 |
|
Generalized non-motor (absence) seizure |
OMIM:618242 |
Hyperprolinemia Type 2 |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized-onset seizure, Aggress... |
ORPHA:79101 |
Satb2-Associated Syndrome Due To A Pathogenic Variant |
|
Happy demeanor, Seizure, Typical absence seizure |
ORPHA:576283 |
Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Atonic seizure, Generalized non-motor (absence) seizure |
OMIM:610293 |
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Inappropriate behavior, Generalized-onset seizure, Aggressive behavior, Self-injurious behavior, ... |
OMIM:619827 |
Nicolaides-Baraitser Syndrome |
|
Epileptic spasm, Status epilepticus, Seizure, Generalized non-motor (absence) seizure |
ORPHA:3051 |
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures |
|
Bilateral tonic-clonic seizure, Seizure, Generalized non-motor (absence) seizure, Multifocal seiz... |
OMIM:618170 |
Neurodevelopmental Disorder And Language Delay With Or Without Structural Brain Abnormalities |
|
Bilateral tonic-clonic seizure with focal onset, Self-injurious behavior, Focal-onset seizure, Bi... |
OMIM:618354 |
Liang-Wang Syndrome |
|
Status epilepticus, Generalized non-motor (absence) seizure |
OMIM:618729 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type |
|
Hostility, Seizure, Status epilepticus, Tonic seizure, Depression, Anxiety, Generalized non-motor... |
OMIM:300260 |
Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Eating-induced seizure, Generalized-onset seizure, Myoclonic absence seizure |
ORPHA:544254 |
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Bilateral tonic-clonic seizure with focal onset, Seizure, Tonic seizure, Bilateral tonic-clonic s... |
OMIM:619428 |
Periventricular Nodular Heterotopia 7 |
|
Infantile spasms, Seizure, Generalized non-motor (absence) seizure |
OMIM:617201 |
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form |
|
Focal emotional seizure with laughing, Hypogonadism, Inappropriate crying, Generalized myoclonic ... |
ORPHA:79351 |
Tubulinopathy-Associated Dysgyria |
|
Infantile spasms, Startle-induced seizure, Generalized non-motor (absence) seizure |
ORPHA:467166 |
Developmental And Epileptic Encephalopathy 110 |
|
Generalized non-motor (absence) seizure, Focal impaired awareness hemiclonic seizure |
OMIM:620149 |
Harel-Yoon Syndrome |
|
Generalized non-motor (absence) seizure |
OMIM:617183 |
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome |
|
Low frustration tolerance, Inappropriate laughter, Self-mutilation, Generalized non-motor (absenc... |
ORPHA:363686 |
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Cognitive impairment, Seizure, Focal-onset seizure, Generalized myoclonic seizure, Bilateral toni... |
ORPHA:395 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Seizure, Apathy, Status epilepticus, Depression, Anxiety, Epileptic spasm, Irritability, Generali... |
ORPHA:96147 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Eyelid myoclonus, Absence seizure with eyelid myoclonia, Generalized non-motor (absence) seizure |
OMIM:613839 |
Angelman Syndrome |
|
Aggressive behavior, Self-injurious behavior, Seizure, Myoclonus, Generalized myoclonic seizure, ... |
ORPHA:72 |
Chromosome Xp11.23-P11.22 Duplication Syndrome |
|
Generalized non-motor (absence) seizure |
OMIM:300801 |
Intellectual Developmental Disorder, X-Linked 98 |
|
Aggressive behavior, Self-biting, Generalized myoclonic seizure, Status epilepticus, Tonic seizur... |
OMIM:300912 |
Lissencephaly Due To Lis1 Mutation |
|
Generalized tonic seizure, Seizure, Focal motor seizure, Generalized myoclonic seizure, Atonic se... |
ORPHA:95232 |
Intellectual Developmental Disorder, Autosomal Dominant 42 |
|
Myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Aggressive beha... |
OMIM:616973 |
3-Methylglutaconic Aciduria, Type Viia |
|
Myoclonic seizure, Generalized-onset seizure, Atypical absence seizure, Bilateral tonic-clonic se... |
OMIM:619835 |
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Seizure, Self-injurious behavior, Generalized myoclonic seizure, Bilateral tonic-clonic seizure, ... |
ORPHA:457351 |
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Bilateral tonic-clonic seizure, Atypical absence seizure, Seizure, Bilateral tonic-clonic seizure... |
ORPHA:98795 |
Kohlschutter-Tonz Syndrome-Like |
|
Generalized clonic seizure, Generalized tonic seizure, Seizure, Focal-onset seizure, Myoclonus, S... |
OMIM:619229 |
Pitt-Hopkins-Like Syndrome 1 |
|
Bilateral tonic-clonic seizure with focal onset, Generalized-onset seizure, Aggressive behavior, ... |
OMIM:610042 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Myoclonic seizure, Bilateral tonic-clonic seizure, Seizure, Generalized non-motor (absence) seizure |
OMIM:615398 |
Tay-Sachs Disease |
|
Typical absence seizure, Seizure, Myoclonus, Focal impaired awareness seizure, Depression, Anxiet... |
ORPHA:845 |
Epilepsy, X-Linked 2, With Or Without Impaired Intellectual Development And Dysmorphic Features |
|
Febrile seizure (within the age range of 3 months to 6 years), Tonic seizure, Bilateral tonic-clo... |
OMIM:301091 |
3P25.3 Microdeletion Syndrome |
|
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Generalized non-motor (absence) se... |
ORPHA:435638 |
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Bilateral tonic-clonic seizure, Inappropriate laughter, Generalized non-motor (absence) seizure |
OMIM:615802 |
Early Infantile Epileptic Encephalopathy |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized clonic seizure, Genera... |
ORPHA:1934 |
Dpm1-Cdg |
|
Generalized tonic seizure, Seizure, Generalized myoclonic seizure, Early onset absence seizures, ... |
ORPHA:79322 |
Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ir... |
OMIM:617798 |
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Seizure, Generalized non-motor (absence) seizure |
OMIM:617360 |
Intellectual Developmental Disorder, Autosomal Dominant 22 |
|
Seizure, Generalized non-motor (absence) seizure |
OMIM:612337 |
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
|
Febrile seizure (within the age range of 3 months to 6 years), Aggressive behavior, Self-injuriou... |
ORPHA:466943 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Focal-onset seizure, Cognitive impairment, Seizure, Generalized non-motor (absence) seizure |
ORPHA:258 |
Developmental And Epileptic Encephalopathy 100 |
|
Myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Typical absence... |
OMIM:619777 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Focal emotional seizure with laughing, Myoclonus, Focal tonic seizure, Generalized myoclonic seiz... |
ORPHA:404454 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation |
|
Aggressive behavior, Typical absence seizure, Self-injurious behavior, Borderline personality dis... |
ORPHA:466950 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Bilateral tonic-clonic seizure, Generalized tonic seizure, Generalized myoclonic seizure, General... |
ORPHA:369837 |
Weaver Syndrome |
|
Bilateral tonic-clonic seizure, Seizure, Generalized non-motor (absence) seizure |
OMIM:277590 |
Kinsship Syndrome |
|
Focal-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myo... |
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), Aggressive behavior, Typical absen... |
ORPHA:268261 |
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome |
|
Typical absence seizure, Seizure |
OMIM:618343 |
Helsmoortel-Van Der Aa Syndrome |
|
Typical absence seizure, Seizure, Happy demeanor, Tonic seizure, Anxiety, Irritability |
OMIM:615873 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Generalized non-motor (absence) seizure |
ORPHA:293978 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Bilateral tonic-clonic seizure, Seizure, Self-injurious behavior, Generalized non-motor (absence)... |
OMIM:612474 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Se... |
ORPHA:513456 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Typical absence seizure, Seizure |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Typical absence seizure, Seizure |
ORPHA:352665 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Epileptic spasm, Status epilepticus, Seizure, Generalized non-motor (absence) seizure |
ORPHA:2636 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Bipolar affective disorder, Generalized non-motor (absence) seizure, Depression |
ORPHA:77293 |
Sotos Syndrome |
|
Decreased fertility, Aggressive behavior, Seizure, Generalized myoclonic seizure, Bilateral tonic... |
ORPHA:821 |
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Focal-onset seizure, Atonic seizure, Typical absence seizure |
OMIM:617157 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Generalized-onset seizure, Generalized non-motor (absence) seizure |
ORPHA:500150 |
Carpenter Syndrome 2 |
|
Generalized non-motor (absence) seizure |
OMIM:614976 |
Mowat-Wilson Syndrome |
|
Seizure, Focal-onset seizure, Oligomenorrhea, Status epilepticus, Happy demeanor, Anxiety, Atypic... |
ORPHA:2152 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Seizure, Focal-onset seizure, Happy demeanor, Atypical absence seizure, Chordee |
ORPHA:261537 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Seizure, Focal-onset seizure, Happy demeanor, Atypical absence seizure, Chordee |
ORPHA:261552 |
Alström Syndrome |
|
Irregular menstruation, Typical absence seizure, Cognitive impairment, Decreased fertility in mal... |
ORPHA:64 |
1P36 Deletion Syndrome |
|
Delayed speech and language development, Self-injurious behavior, EEG abnormality, Absent speech |
ORPHA:1606 |