Autism, Susceptibility To, 20 |
|
Reduced social reciprocity |
OMIM:618830 |
Epilepsy, Familial Temporal Lobe, 1 |
|
Focal automatism seizure, Focal aware sensory seizure with auditory features, Focal impaired awar... |
OMIM:600512 |
Hereditary Geniospasm |
|
Abnormal social behavior |
ORPHA:53372 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities, With Or Without Seizures |
|
Myoclonic seizure, Infantile spasms, Tonic seizure, Bilateral tonic-clonic seizure, Atonic seizure |
OMIM:619964 |
Epilepsy, Familial Temporal Lobe, 5 |
|
Visually-induced seizure, Focal aware seizure, Focal impaired awareness seizure, Bilateral tonic-... |
OMIM:614417 |
Epilepsy, Early-Onset, 3, With Or Without Developmental Delay |
|
Myoclonic seizure, Focal impaired awareness seizure, Generalized non-motor (absence) seizure, Feb... |
OMIM:620465 |
Epilepsy, Familial Temporal Lobe, 8 |
|
Focal aware sensory seizure with auditory features, Bilateral tonic-clonic seizure with focal ons... |
OMIM:616461 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 3 |
|
Seizure, Bilateral tonic-clonic seizure |
OMIM:608762 |
Developmental And Epileptic Encephalopathy 9 |
|
Convulsive status epilepticus, Generalized non-motor (absence) seizure, Focal-onset seizure, Foca... |
OMIM:300088 |
Intellectual Developmental Disorder, Autosomal Recessive 64 |
|
Reduced social reciprocity |
OMIM:618103 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Abnormal social behavior |
ORPHA:436151 |
Epilepsy, Myoclonic Juvenile |
|
Myoclonic seizure, Generalized non-motor (absence) seizure, Morning myoclonic jerks, Bilateral to... |
OMIM:254770 |
Asperger Syndrome, Susceptibility To, 1 |
|
Impaired ability to form peer relationships |
OMIM:608638 |
Asperger Syndrome, Susceptibility To, 2 |
|
Impaired ability to form peer relationships |
OMIM:608631 |
Seizures, Benign Familial Neonatal, 2 |
|
Focal clonic seizure, Bilateral tonic-clonic seizure |
OMIM:121201 |
Succinic Semialdehyde Dehydrogenase Deficiency |
|
Generalized myoclonic seizure, Status epilepticus, Bilateral tonic-clonic seizure |
ORPHA:22 |
Generalized Epilepsy With Febrile Seizures Plus, Type 2 |
|
Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within t... |
OMIM:604403 |
Developmental And Epileptic Encephalopathy 15 |
|
Myoclonic seizure, Focal clonic seizure, Epileptic spasm, Tonic seizure, Bilateral tonic-clonic s... |
OMIM:615006 |
Benign Familial Infantile Epilepsy |
|
Focal head nodding automatism seizure, Neonatal seizure, Limb myoclonus, Generalized non-motor (a... |
ORPHA:306 |
Intellectual Developmental Disorder With Autism And Speech Delay |
|
Reduced social reciprocity |
OMIM:606053 |
Generalized Epilepsy With Febrile Seizures Plus, Type 9 |
|
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... |
OMIM:616172 |
Epilepsy, Nocturnal Frontal Lobe, 2 |
|
Status epilepticus, Bilateral tonic-clonic seizure |
OMIM:603204 |
Febrile Seizures, Familial, 1 |
|
Generalized tonic seizure, Atonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (withi... |
OMIM:121210 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 17 |
|
Generalized tonic seizure, Atonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (withi... |
OMIM:602477 |
Febrile Seizures, Familial, 5 |
|
Generalized tonic seizure, Atonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (withi... |
OMIM:609255 |
Febrile Seizures, Familial, 6 |
|
Generalized tonic seizure, Atonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (withi... |
OMIM:609253 |
Febrile Seizures, Familial, 4 |
|
Generalized tonic seizure, Atonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (withi... |
OMIM:604352 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 8 |
|
Generalized non-motor (absence) seizure, Seizure, Febrile seizure (within the age range of 3 mont... |
OMIM:612899 |
Developmental And Epileptic Encephalopathy 104 |
|
Focal impaired awareness seizure, Seizure, Epileptic spasm, Tonic seizure, Bilateral tonic-clonic... |
OMIM:619970 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 7 |
|
Myoclonus, Bilateral tonic-clonic seizure |
OMIM:604827 |
Seizures, Benign Familial Infantile, 5 |
|
Focal impaired awareness seizure, Bilateral tonic-clonic seizure |
OMIM:617080 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 14 |
|
Seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 mont... |
OMIM:616685 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 15 |
|
Generalized non-motor (absence) seizure, Seizure, Myoclonus, Bilateral tonic-clonic seizure, Eyel... |
OMIM:618357 |
Generalized Epilepsy With Febrile Seizures Plus, Type 7 |
|
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... |
OMIM:613863 |
Developmental And Epileptic Encephalopathy 94 |
|
Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within t... |
OMIM:615369 |
Developmental And Epileptic Encephalopathy 26 |
|
Focal impaired awareness seizure, Infantile spasms, Bilateral tonic-clonic seizure, Atonic seizur... |
OMIM:616056 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 12 |
|
Bilateral tonic-clonic seizure |
OMIM:614847 |
Seizures, Benign Familial Neonatal, 3 |
|
Bilateral tonic-clonic seizure |
OMIM:608217 |
Dravet Syndrome |
|
Myoclonic seizure, Focal impaired awareness seizure, Generalized non-motor (absence) seizure, Sta... |
OMIM:607208 |
Generalized Epilepsy With Febrile Seizures Plus, Type 1 |
|
Bilateral tonic-clonic seizure, Atonic seizure, Generalized non-motor (absence) seizure, Febrile ... |
OMIM:604233 |
Developmental And Epileptic Encephalopathy 12 |
|
Epileptic spasm, Tonic seizure, Focal-onset seizure, Bilateral tonic-clonic seizure |
OMIM:613722 |
Developmental And Epileptic Encephalopathy 11 |
|
Status epilepticus, Bilateral tonic-clonic seizure with focal onset, Bilateral tonic-clonic seizure |
OMIM:613721 |
Epilepsy, Familial Temporal Lobe, 2 |
|
Febrile seizure (within the age range of 3 months to 6 years), Febrile status epilepticus, Bilate... |
OMIM:608096 |
Epilepsy, Early-Onset, 5, With Or Without Developmental Delay |
|
Bilateral tonic-clonic seizure, Myoclonus, Focal impaired awareness seizure, Focal sensory seizur... |
OMIM:615400 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 10 |
|
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... |
OMIM:613060 |
Developmental And Epileptic Encephalopathy 74 |
|
Myoclonic seizure, Typical absence seizure, Infantile spasms, Tonic seizure, Bilateral tonic-clon... |
OMIM:618396 |
Epilepsy, Idiopathic Generalized |
|
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Generalized non-motor (absence) se... |
OMIM:600669 |
Developmental And Epileptic Encephalopathy 54 |
|
Seizure, Myoclonus, Status epilepticus without prominent motor symptoms, Tonic seizure, Bilateral... |
OMIM:617391 |
Developmental And Epileptic Encephalopathy 112 |
|
Focal aware motor seizure, Myoclonic seizure, Generalized non-motor (absence) seizure, Infantile ... |
OMIM:620537 |
Epilepsy, Familial Temporal Lobe, 6 |
|
Focal impaired awareness seizure, Status epilepticus, Febrile seizure (within the age range of 3 ... |
OMIM:615697 |
Developmental And Epileptic Encephalopathy 24 |
|
Myoclonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the age range... |
OMIM:615871 |
Developmental And Epileptic Encephalopathy 31A |
|
Myoclonic seizure, Epileptic spasm, Tonic seizure, Bilateral tonic-clonic seizure, Atonic seizure... |
OMIM:616346 |
Autosomal Dominant Epilepsy With Auditory Features |
|
Focal autonomic seizure, Generalized-onset seizure, Bilateral tonic-clonic seizure with focal ons... |
ORPHA:101046 |
Perioral Myoclonia With Absences |
|
Generalized non-motor (absence) seizure, Focal seizure with eyelid myoclonia, Chin myoclonus, Bil... |
ORPHA:139426 |
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10 |
|
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Generalized non-motor (absence) se... |
OMIM:617924 |
Generalized Epilepsy With Febrile Seizures Plus, Type 4 |
|
Bilateral tonic-clonic seizure, Generalized tonic seizure, Generalized non-motor (absence) seizur... |
OMIM:609800 |
Intellectual Developmental Disorder, Autosomal Recessive 34, With Variant Lissencephaly |
|
Bilateral tonic-clonic seizure, Seizure |
OMIM:614499 |
Epilepsy, Familial Adult Myoclonic, 4 |
|
Bilateral tonic-clonic seizure, Myoclonus, Seizure |
OMIM:615127 |
Developmental And Epileptic Encephalopathy 53 |
|
Convulsive status epilepticus, Myoclonic seizure, Seizure, Epileptic spasm, Tonic seizure, Bilate... |
OMIM:617389 |
Chromosome 15Q11-Q13 Duplication Syndrome |
|
Impaired ability to form peer relationships, Reduced social reciprocity |
OMIM:608636 |
Seizures, Benign Familial Neonatal, 1 |
|
Focal clonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (within the age range of 3 ... |
OMIM:121200 |
Intellectual Developmental Disorder, Autosomal Recessive 6 |
|
Reduced social reciprocity |
OMIM:611092 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 11 |
|
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Bilateral tonic-clonic se... |
OMIM:607628 |
Continuous Spikes And Waves During Sleep |
|
Myoclonic absence seizure, Typical absence seizure, Seizure, Focal clonic seizure, Focal-onset se... |
ORPHA:725 |
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4 |
|
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Generalized non-motor (absence) se... |
OMIM:611364 |
Juvenile Absence Epilepsy |
|
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... |
ORPHA:1941 |
Seizures, Benign Familial Infantile, 2 |
|
Focal impaired awareness seizure, Bilateral tonic-clonic seizure, Febrile seizure (within the age... |
OMIM:605751 |
Female Restricted Epilepsy With Intellectual Disability |
|
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... |
ORPHA:101039 |
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development |
|
Seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, Bilateral tonic-cl... |
OMIM:245570 |
Epilepsy, Juvenile Absence, Susceptibility To, 1 |
|
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Bilateral tonic-clonic se... |
OMIM:607631 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 9 |
|
Typical absence seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure ... |
OMIM:607682 |
Developmental And Epileptic Encephalopathy 13 |
|
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... |
OMIM:614558 |
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures |
|
Myoclonic seizure, Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Seizur... |
OMIM:617831 |
Developmental And Epileptic Encephalopathy 108 |
|
Convulsive status epilepticus, Myoclonic seizure, Focal impaired awareness seizure, Generalized n... |
OMIM:620115 |
Intellectual Developmental Disorder, X-Linked 100 |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure |
OMIM:300923 |
Epilepsy, Progressive Myoclonic 7 |
|
Myoclonic seizure, Myoclonus, Bilateral tonic-clonic seizure |
OMIM:616187 |
Intellectual Developmental Disorder, Autosomal Dominant 69 |
|
Bilateral tonic-clonic seizure |
OMIM:617863 |
Febrile Seizures, Familial, 11 |
|
Focal impaired awareness seizure, Bilateral tonic-clonic seizure, Febrile seizure (within the age... |
OMIM:614418 |
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp |
|
Focal motor seizure, Focal hemifacial clonic seizure, Myoclonus, Bilateral tonic-clonic seizure |
OMIM:608105 |
Developmental And Epileptic Encephalopathy 33 |
|
Myoclonic seizure, Typical absence seizure, Seizure, Epileptic spasm, Bilateral tonic-clonic seizure |
OMIM:616409 |
Myoclonic Epilepsy, Familial Infantile |
|
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Focal-onset seizure, Bila... |
OMIM:605021 |
Seizures, Benign Familial Infantile, 3 |
|
Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset, Bilateral toni... |
OMIM:607745 |
Developmental And Epileptic Encephalopathy 27 |
|
Myoclonic seizure, Seizure, Epileptic spasm, Infantile spasms, Myoclonus, Bilateral tonic-clonic ... |
OMIM:616139 |
Unilateral Hemispheric Polymicrogyria |
|
Generalized myoclonic seizure, Infantile spasms, Focal atonic seizure, Bilateral tonic-clonic sei... |
ORPHA:101071 |
Lissencephaly 10 |
|
Myoclonic seizure, Focal impaired awareness seizure, Generalized non-motor (absence) seizure, Feb... |
OMIM:618873 |
Developmental And Epileptic Encephalopathy 43 |
|
Myoclonic seizure, Infantile spasms, Bilateral tonic-clonic seizure, Atonic seizure, Atypical abs... |
OMIM:617113 |
Epilepsy, Familial Focal, With Variable Foci 4 |
|
Focal impaired awareness seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, Simple feb... |
OMIM:617935 |
Epilepsy, Childhood Absence, Susceptibility To, 1 |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within ... |
OMIM:600131 |
Febrile Seizures, Familial, 8 |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within ... |
OMIM:607681 |
Developmental And Epileptic Encephalopathy 52 |
|
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Focal hemiclonic seizure,... |
OMIM:617350 |
Familial Focal Epilepsy With Variable Foci |
|
Infantile spasms, Focal-onset seizure, Deja vu aura, Nocturnal seizures, Bilateral tonic-clonic s... |
ORPHA:98820 |
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Myoclonus, Absence seizure with eyelid myoclonia, Bilateral tonic-clonic seizure, Atonic seizure,... |
OMIM:618587 |
Lennox-Gastaut Syndrome |
|
Myoclonus, Focal-onset seizure, Generalized tonic seizure, Bilateral tonic-clonic seizure, Atonic... |
ORPHA:2382 |
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion |
|
Status epilepticus without prominent motor symptoms, Complex febrile seizure, Seizure precipitate... |
ORPHA:363549 |
Polymicrogyria, Bilateral Perisylvian, X-Linked |
|
Atypical absence seizure, Bilateral tonic-clonic seizure |
OMIM:300388 |
Pachygyria With Impaired Intellectual Development, Seizures, And Arachnoid Cysts |
|
Atypical absence seizure, Bilateral tonic-clonic seizure |
OMIM:600176 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Reduced social reciprocity |
ORPHA:329249 |
Developmental And Epileptic Encephalopathy 99 |
|
Generalized non-motor (absence) seizure, Epileptic spasm, Focal-onset seizure, Focal hemiclonic s... |
OMIM:619606 |
Myoclonic Epilepsy Of Infancy |
|
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... |
ORPHA:86909 |
Generalized Epilepsy With Febrile Seizures-Plus |
|
Focal impaired awareness seizure, Generalized non-motor (absence) seizure, Febrile seizure (withi... |
ORPHA:36387 |
Developmental And Epileptic Encephalopathy 67 |
|
Generalized non-motor (absence) seizure, Focal hemiclonic seizure, Tonic seizure, Bilateral tonic... |
OMIM:618141 |
Childhood Disintegrative Disorder |
|
Abnormal emotion, Reduced social reciprocity |
ORPHA:168782 |
Episodic Ataxia, Type 5 |
|
Typical absence seizure, Febrile seizure (within the age range of 3 months to 6 years), Myoclonus... |
OMIM:613855 |
Developmental Delay With Or Without Epilepsy |
|
Myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the ... |
OMIM:620540 |
Cataracts, Spastic Paraparesis, And Speech Delay |
|
Bilateral tonic-clonic seizure, Complex febrile seizure, Focal motor seizure, Generalized non-mot... |
OMIM:619338 |
Developmental And Epileptic Encephalopathy 102 |
|
Generalized myoclonic seizure, Tonic seizure, Focal emotional seizure with laughing, Bilateral to... |
OMIM:619881 |
11Q22.2Q22.3 Microdeletion Syndrome |
|
Abnormal social behavior |
ORPHA:444002 |
Hsd10 Disease |
|
Abnormal social behavior |
ORPHA:391417 |
Familial Infantile Myoclonic Epilepsy |
|
Limb myoclonus, Seizure, Focal-onset seizure, Bilateral tonic-clonic seizure with generalized ons... |
ORPHA:352582 |
Childhood Absence Epilepsy |
|
Depression, Abnormal social behavior |
ORPHA:64280 |
Trichotillomania |
|
Hair-pulling |
OMIM:613229 |
Lamb-Shaffer Syndrome |
|
Abnormal social behavior |
ORPHA:530983 |
Lafora Disease |
|
Generalized myoclonic seizure, Focal impaired awareness seizure, Generalized non-motor (absence) ... |
ORPHA:501 |
Myoclonic Epilepsy Of Lafora 1 |
|
Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Focal sensory seizure wit... |
OMIM:254780 |
Metachromatic Leukodystrophy, Late Infantile Form |
|
Emotional lability, Abnormal social behavior |
ORPHA:309256 |
Metachromatic Leukodystrophy, Juvenile Form |
|
Emotional lability, Abnormal social behavior |
ORPHA:309263 |
48,Xxxy Syndrome |
|
Abnormal aggressive, impulsive or violent behavior, Abnormal social behavior, Irritability |
ORPHA:96263 |
Early-Onset Autosomal Dominant Alzheimer Disease |
|
Abnormal social behavior |
ORPHA:1020 |
Metachromatic Leukodystrophy, Adult Form |
|
Emotional lability, Depression, Abnormal social behavior |
ORPHA:309271 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Abnormal aggressive, impulsive or violent behavior, Abnormal social behavior, Irritability |
ORPHA:1675 |
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
|
Hair-pulling, Irritability |
ORPHA:447997 |
Fg Syndrome Type 1 |
|
Abnormal social behavior |
ORPHA:93932 |
Choreoacanthocytosis |
|
Depression, Emotional lability, Hair-pulling, Irritability, Socially inappropriate behavior |
ORPHA:2388 |
Prader-Willi Syndrome Due To Translocation |
|
Abnormal social behavior, Reduced social reciprocity |
ORPHA:177907 |
Intellectual Developmental Disorder, Autosomal Dominant 38 |
|
Hair-pulling |
OMIM:616393 |
Mend Syndrome |
|
Abnormal social behavior |
ORPHA:401973 |
Tuberous Sclerosis Complex |
|
Depression, Abnormal social behavior |
ORPHA:805 |
Niemann-Pick Disease Type C |
|
Depression, Abnormal social behavior, Low frustration tolerance |
ORPHA:646 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Inappropriate laughter, Abnormal social behavior, Overfriendliness |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Inappropriate laughter, Abnormal social behavior, Overfriendliness |
ORPHA:363958 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Emotional lability, Hair-pulling |
OMIM:620330 |
Non-Progressive Cerebellar Ataxia With Intellectual Disability |
|
Abnormal social behavior |
ORPHA:314647 |
Cornelia De Lange Syndrome 6 |
|
Hair-pulling |
OMIM:620568 |
Monosomy 22Q13.3 |
|
Hair-pulling |
ORPHA:48652 |
Williams Syndrome |
|
Depression, Abnormal social behavior, Overfriendliness |
ORPHA:904 |
Schizophrenia |
|
|
OMIM:181500 |