banner
Genes Phenotypes Help, News, Blog

Gene: Nr4a3 MGI:1352457

Log in to follow
Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
nuclear receptor subfamily 4, group A, member 3
Synonyms:
Nor1,  TEC,  NOR-1,  MINOR

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Nr4a3 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Nr4a3 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Chondrosarcoma, Extraskeletal Myxoid
OMIM:612237

The table below shows human diseases predicted to be associated to Nr4a3 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Developmental And Epileptic Encephalopathy 104
Hyperactivity, Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Se... OMIM:619970
Lissencephaly 3
Bilateral tonic-clonic seizure, Periventricular laminar heterotopia, Ataxia, Pachygyria, Gray mat... OMIM:611603
Epilepsy, Familial Temporal Lobe, 1
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal autonomic ... OMIM:600512
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Bilateral tonic-clonic seizure, Ataxia, Infantile spasms, Impulsivity, Myoclonic s... OMIM:617113
Chromosome 15Q11-Q13 Duplication Syndrome
Restrictive behavior, Bilateral tonic-clonic seizure, Seizure, Truncal ataxia, Abnormal repetitiv... OMIM:608636
Epilepsy, Progressive Myoclonic, 9
Bilateral tonic-clonic seizure, Simplified gyral pattern, Gait ataxia, Status epilepticus, Myoclo... OMIM:616540
Developmental And Epileptic Encephalopathy 9
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure, Aggressive... OMIM:300088
Stxbp1-Related Encephalopathy
Hyperactivity, Epileptic spasm, Ataxia, Bilateral tonic-clonic seizure with focal onset, Infantil... ORPHA:599373
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Ataxia, Hydrocephalus, Abnormality of neuronal migration, Seizure, Attention deficit hyperactivit... OMIM:618709
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
Bilateral tonic-clonic seizure, Aggressive behavior, Status epilepticus, Agitation, Abnormal repe... OMIM:617171
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities
Bilateral tonic-clonic seizure, Ataxia, Dysplastic corpus callosum, Seizure, Large earlobe OMIM:620317
Polymicrogyria, Bilateral Temporooccipital
Bilateral tonic-clonic seizure with focal onset, Aggressive behavior, Focal impaired awareness se... OMIM:612691
Isolated Focal Cortical Dysplasia
Epileptic spasm, Generalized-onset seizure, Abnormal cortical gyration, Infantile spasms, Bilater... ORPHA:65683
Epilepsy, Nocturnal Frontal Lobe, 2
Status epilepticus, Bilateral tonic-clonic seizure, Aggressive behavior OMIM:603204
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Bilateral tonic-clonic seizure, Aggressive behavior, Abnormal fear-induced behavior, Seizure, Pse... ORPHA:208441
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity, Bilateral tonic-clonic seizure, Impulsivity, Abnormal eating behavior, Aggressive ... ORPHA:101039
Neurodevelopmental Disorder With Microcephaly, Ataxia, And Seizures
Bilateral tonic-clonic seizure, Ataxia, Aggressive behavior OMIM:617709
Intellectual Developmental Disorder, Autosomal Recessive 37
Seizure, Hyperactivity, Bruxism, Aggressive behavior OMIM:615493
Pontocerebellar Hypoplasia, Type 15
Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Partial agenesis of the co... OMIM:619302
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Hyperactivity, Generalized-onset seizure, Bilateral tonic-clonic seizure, Impulsivity, Aggressive... OMIM:604317
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent
Bilateral tonic-clonic seizure, Clonic seizure, Hydrocephalus, Status epilepticus, Generalized my... OMIM:266100
Developmental And Epileptic Encephalopathy 98
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Clonic seizure, ... OMIM:619605
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure, Choreoathetosi... OMIM:618497
Developmental And Epileptic Encephalopathy 26
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Infantile spasms... OMIM:616056
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Seizure, Hyperactivity, Bruxism, Aggressive behavior ORPHA:356996
Succinic Semialdehyde Dehydrogenase Deficiency
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Ataxia, Status epilepticus ORPHA:22
Guanidinoacetate Methyltransferase Deficiency
Hyperactivity, Bilateral tonic-clonic seizure, Ataxia, Aggressive behavior, Chorea, Self-injuriou... ORPHA:382
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay
Bilateral tonic-clonic seizure, Attention deficit hyperactivity disorder, Aggressive behavior OMIM:619639
Episodic Ataxia, Type 9
Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Vertigo, Paroxysmal vertigo, Seizu... OMIM:618924
Intellectual Developmental Disorder, Autosomal Recessive 34, With Variant Lissencephaly
Seizure, Pachygyria, Lissencephaly, Bilateral tonic-clonic seizure OMIM:614499
Developmental Delay, Impaired Speech, And Behavioral Abnormalities, With Or Without Seizures
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Myoclonic seizure, Atonic seizure OMIM:619964
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset seiz... OMIM:245570
Developmental And Epileptic Encephalopathy 59
Bilateral tonic-clonic seizure, Ataxia, Infantile spasms, Tonic seizure, Self-injurious behavior,... OMIM:617904
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Seizure, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:617787
Landau-Kleffner Syndrome
Hyperactivity, Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seiz... ORPHA:98818
Autism, Susceptibility To, X-Linked 3
Restrictive behavior, Seizure, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:300496
Autism, Susceptibility To, X-Linked 1
Restrictive behavior, Seizure, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:300425
Lissencephaly 10
Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo... OMIM:618873
Developmental And Epileptic Encephalopathy 24
Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Clonic seizure, Generalized non-moto... OMIM:615871
Lennox-Gastaut Syndrome
Hyperactivity, Bilateral tonic-clonic seizure, Aggressive behavior, Focal-onset seizure, Myoclonu... ORPHA:2382
Intellectual Developmental Disorder, Autosomal Dominant 69
Bilateral tonic-clonic seizure, Attention deficit hyperactivity disorder OMIM:617863
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Seizure, Hyperactivity, Low-set ears ORPHA:436151
Cortical Malformations, Occipital
Focal impaired awareness automatism seizure, Pachygyria, Bilateral tonic-clonic seizure, Polymicr... OMIM:614115
Developmental And Epileptic Encephalopathy 31A
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Atypical absence status epileptic... OMIM:616346
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
Episodic ataxia, Bilateral tonic-clonic seizure, Typical absence seizure, Paroxysmal vertigo, Gen... OMIM:607682
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Bilateral tonic-clonic seizure, Gait ataxia, Dysphagia, Recurrent hand flapping, Abnormal repetit... OMIM:617862
Developmental And Epileptic Encephalopathy 15
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure, Focal clonic s... OMIM:615006
Continuous Spikes And Waves During Sleep
Bilateral tonic-clonic seizure, Aggressive behavior, Focal hemiclonic seizure, Focal-onset seizur... ORPHA:725
Foxg1 Syndrome
Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Choreoathetosis, Agenesis ... ORPHA:561854
Pontocerebellar Hypoplasia, Type 14
Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Simplified gyral pattern, ... OMIM:619301
Autism, Susceptibility To, 8
Restrictive behavior, Seizure, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:607373
Autism
Restrictive behavior, Seizure, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:209850
Dravet Syndrome
Bilateral tonic-clonic seizure, Ataxia, Generalized clonic seizure, Focal hemiclonic seizure, Vis... OMIM:607208
Epilepsy, Progressive Myoclonic, 12
Ataxia, Bilateral tonic-clonic seizure, Dysmetria, Myoclonus, Attention deficit hyperactivity dis... OMIM:619191
Unilateral Hemispheric Polymicrogyria
Bilateral tonic-clonic seizure, Infantile spasms, Focal atonic seizure, Focal-onset seizure, Late... ORPHA:101071
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Bilateral tonic-clonic seizure, Aggressive behavior, Generalized non-motor (absence) seizure, Eye... OMIM:618357
Developmental And Epileptic Encephalopathy 30
Generalized myoclonic seizure, Seizure, Abnormal repetitive mannerisms, Bilateral tonic-clonic se... OMIM:616341
Epilepsy, Familial Temporal Lobe, 5
Visually-induced seizure, Bilateral tonic-clonic seizure, Focal aware seizure, Focal impaired awa... OMIM:614417
Autosomal Dominant Epilepsy With Auditory Features
Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo... ORPHA:101046
Intellectual Developmental Disorder, X-Linked 72
Seizure, Hyperactivity, Abnormal repetitive mannerisms OMIM:300271
Polymicrogyria With Optic Nerve Hypoplasia
Bilateral tonic-clonic seizure, Infantile spasms, Dysplastic corpus callosum, Seizure, Colpocepha... ORPHA:250972
Bilateral Generalized Polymicrogyria
Generalized-onset seizure, Bilateral tonic-clonic seizure, Atonic seizure, Oral-pharyngeal dyspha... ORPHA:208447
Yoon-Bellen Neurodevelopmental Syndrome
Bilateral tonic-clonic seizure, Ataxia, Infantile spasms, Generalized myoclonic-atonic seizure, S... OMIM:619701
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant
Restlessness, Bilateral tonic-clonic seizure, Focal impaired awareness seizure OMIM:610003
Developmental And Epileptic Encephalopathy 6B
Epileptic spasm, Bilateral tonic-clonic seizure, Ataxia, Tonic seizure, Focal hemiclonic seizure,... OMIM:619317
Developmental And Epileptic Encephalopathy 74
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Typical absence seizure, Myoclon... OMIM:618396
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Recurrent otitis media, Hyperactivity, Bilateral tonic-clonic seizure, Inflexible adherence to ro... OMIM:301076
Developmental And Epileptic Encephalopathy 67
Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Generalized non-motor (a... OMIM:618141
Developmental And Epileptic Encephalopathy 33
Epileptic spasm, Bilateral tonic-clonic seizure, Aggressive behavior, Typical absence seizure, My... OMIM:616409
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Focal-onset seizure, Chorea, Gait ... OMIM:618917
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)
Bilateral tonic-clonic seizure, Ataxia, Myoclonic seizure, Seizure, Myoclonus OMIM:162350
Intellectual Developmental Disorder, X-Linked 30
Restlessness, Hyperactivity, Bilateral tonic-clonic seizure, Aggressive behavior, Hydrocephalus, ... OMIM:300558
Epilepsy, Familial Temporal Lobe, 8
Bilateral tonic-clonic seizure with focal onset, Focal aware autonomic seizure with epigastric se... OMIM:616461
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Absence seizure with eyelid myoclonia, Bilateral tonic-clonic seizure, Generalized myoclonic-aton... OMIM:618587
Polymicrogyria, Bilateral Perisylvian, X-Linked
Pseudobulbar paralysis, Polymicrogyria, Bilateral tonic-clonic seizure, Atypical absence seizure OMIM:300388
Developmental And Epileptic Encephalopathy 53
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure, Seizure, Convu... OMIM:617389
Deafness, Autosomal Dominant 87
Enlarged vestibular aqueduct, Hearing impairment, Incomplete partition of the cochlea type II OMIM:620281
Episodic Ataxia, Type 5
Bilateral tonic-clonic seizure, Ataxia, Typical absence seizure, Vertigo, Myoclonus, Atypical abs... OMIM:613855
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Hyperactivity, Bilateral tonic-clonic seizure, Aggressive behavior, Seizure, Status epilepticus, ... OMIM:620292
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Nail-biting, Hyperactivity, Generalized-onset seizure, Bilateral tonic-clonic seizure, Aggressive... OMIM:619827
Developmental And Epileptic Encephalopathy 109
Hyperactivity, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Typical a... OMIM:620145
Congenital Disorder Of Glycosylation, Type Iaa
Pseudobulbar paralysis, Bilateral tonic-clonic seizure, Hearing impairment, Status epilepticus OMIM:617082
Developmental And Epileptic Encephalopathy 13
Epileptic spasm, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset,... OMIM:614558
Microcephaly, Seizures, And Developmental Delay
Seizure, Hyperactivity, Ataxia, Simplified gyral pattern OMIM:613402
Epilepsy, Progressive Myoclonic 7
Bilateral tonic-clonic seizure, Myoclonus, Ataxia, Myoclonic seizure OMIM:616187
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Aggressive behavior, Hydrocephalus, Simplified gyral pattern, Seizure, Abnormal re... OMIM:619470
Mitochondrial Complex I Deficiency, Nuclear Type 12
Bilateral tonic-clonic seizure, Ataxia, Choreoathetosis, Seizure, Myoclonus, Generalized myocloni... OMIM:301020
Familial Focal Epilepsy With Variable Foci
Bilateral tonic-clonic seizure, Infantile spasms, Simple febrile seizure, Focal-onset seizure, Fo... ORPHA:98820
Fraxe Intellectual Disability
Hyperactivity, Impulsivity, Aggressive behavior, Prominent ear helix, Stereotypical body rocking,... ORPHA:100973
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Bilateral tonic-clonic seizure, Ataxia, Generalized non-motor (absence) seizure, Myoclonic seizur... OMIM:617831
Glycine Encephalopathy 1
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Seizure, Myoclonus, Agenesis of co... OMIM:605899
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy
Bilateral tonic-clonic seizure, Aggressive behavior, Focal-onset seizure, Generalized non-motor (... OMIM:619157
Epilepsy, Idiopathic Generalized, Susceptibility To, 3
Seizure, Bilateral tonic-clonic seizure OMIM:608762
Developmental And Epileptic Encephalopathy 27
Epileptic spasm, Bilateral tonic-clonic seizure, Infantile spasms, Chorea, Myoclonic seizure, Sei... OMIM:616139
Myoclonic Epilepsy Of Infancy
Bilateral tonic-clonic seizure, Photosensitive tonic-clonic seizure, Aggressive behavior, General... ORPHA:86909
Succinic Semialdehyde Dehydrogenase Deficiency
Hyperactivity, Bilateral tonic-clonic seizure, Ataxia, Aggressive behavior, Generalized non-motor... OMIM:271980
Benign Familial Infantile Epilepsy
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Simple febrile s... ORPHA:306
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type)
Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Myoclonus, Status epilepticus withou... OMIM:204300
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Hyperactivity, Bilateral tonic-clonic seizure, Tonic seizure, Dysmetria, Gait ataxia, Generalized... OMIM:618090
Salt And Pepper Developmental Regression Syndrome
Bilateral tonic-clonic seizure, Choreoathetosis, Status epilepticus, Myoclonus, Hearing impairment OMIM:609056
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Ataxia, Focal motor status epilepticus, Aggressive behavior, Focal-onset seizure, Chorea, Seizure... OMIM:619150
Generalized Epilepsy With Febrile Seizures-Plus
Generalized-onset seizure, Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Generaliz... ORPHA:36387
Myoclonic Epilepsy, Familial Infantile
Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Limb ataxia, Gait ataxia, Seizure, G... OMIM:605021
Developmental And Epileptic Encephalopathy 11
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Status epilepticus OMIM:613721
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions
Generalized myoclonic seizure, Bilateral tonic-clonic seizure with focal onset, Myoclonic seizure... OMIM:611726
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4
Generalized myoclonic seizure, Bilateral tonic-clonic seizure OMIM:611364
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Bilateral tonic-clonic seizure, Myoclonic seizure, Seizure, Lateral ventricle dilatation, Large e... OMIM:615716
Intellectual Developmental Disorder, X-Linked 1
Seizure, Bilateral tonic-clonic seizure, Atonic seizure, Aggressive behavior OMIM:309530
Hyperprolinemia, Type I
Hyperactivity, Ataxia, Aggressive behavior, Seizure, Status epilepticus, Abnormal repetitive mann... OMIM:239500
Epilepsy, Familial Focal, With Variable Foci 4
Bilateral tonic-clonic seizure, Simple febrile seizure, Focal-onset seizure, Clonic seizure, Foca... OMIM:617935
Congenital Disorder Of Glycosylation, Type Iiy
Status epilepticus, Agenesis of corpus callosum, Bilateral tonic-clonic seizure OMIM:620200
Developmental And Epileptic Encephalopathy 63
Epileptic spasm, Generalized-onset seizure, Bilateral tonic-clonic seizure, Conductive hearing im... OMIM:617976
Spinocerebellar Ataxia, Autosomal Recessive 12
Bilateral tonic-clonic seizure, Limb ataxia, Ataxia, Gait ataxia OMIM:614322
Developmental And Epileptic Encephalopathy 54
Bilateral tonic-clonic seizure, Tonic seizure, Seizure, Myoclonus, Atypical absence seizure, Aton... OMIM:617391
Aminoacylase 1 Deficiency
Seizure, Hyperactivity, Bilateral tonic-clonic seizure, Sensorineural hearing impairment OMIM:609924
Developmental And Epileptic Encephalopathy 12
Focal-onset seizure, Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure OMIM:613722
Epilepsy, Progressive Myoclonic, 8
Bilateral tonic-clonic seizure, Limb ataxia, Choreoathetosis, Myoclonus, Truncal ataxia, Action m... OMIM:616230
Seizures, Benign Familial Infantile, 5
Bilateral tonic-clonic seizure, Focal impaired awareness seizure OMIM:617080
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Gait ataxia, Seizure, Myoclonus OMIM:615362
Clcn4-Related X-Linked Intellectual Disability Syndrome
Hyperactivity, Bilateral tonic-clonic seizure, Infantile spasms, Aggressive behavior, Chorea, Gen... ORPHA:485350
Seizures, Benign Familial Neonatal, 2
Focal clonic seizure, Bilateral tonic-clonic seizure OMIM:121201
Epilepsy, Familial Adult Myoclonic, 5
Myoclonus, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Focal sensory seizur... OMIM:615400
Developmental And Epileptic Encephalopathy 107
Clonic seizure, Seizure, Abnormal repetitive mannerisms, Tonic seizure OMIM:620033
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Abnormal lower motor neuron morphology, High-frequency sensorineural hearing impairment, Bilatera... ORPHA:2590
Seizures, Benign Familial Infantile, 2
Bilateral tonic-clonic seizure, Focal impaired awareness seizure OMIM:605751
Mannosidosis, Beta A, Lysosomal
Seizure, Hyperactivity, Hearing impairment, Aggressive behavior OMIM:248510
Developmental And Epileptic Encephalopathy 23
Bilateral tonic-clonic seizure, Abnormal pinna morphology, Infantile spasms, Tonic seizure, Focal... OMIM:615859
Developmental And Epileptic Encephalopathy 94
Bilateral tonic-clonic seizure, Tonic seizure, Visually-induced seizure, Generalized non-motor (a... OMIM:615369
Dentici-Novelli Neurodevelopmental Syndrome
Epileptic spasm, Bilateral tonic-clonic seizure, Simplified gyral pattern, Myoclonic seizure, Mac... OMIM:619877
Asperger Syndrome, Susceptibility To, 1
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:608631
Epilepsy, Familial Adult Myoclonic, 4
Seizure, Bilateral tonic-clonic seizure, Myoclonus OMIM:615127
Intellectual Developmental Disorder, X-Linked 104
Hyperactivity, Abnormal pinna morphology, Ataxia, Aggressive behavior, Seizure OMIM:300983
Epilepsy, Familial Temporal Lobe, 3
Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset, Deja vu aura OMIM:611630
Hartnup Disorder
Hyperactivity, Seizure, Attention deficit hyperactivity disorder, Episodic ataxia, Generalized to... OMIM:234500
Developmental And Epileptic Encephalopathy 42
Bilateral tonic-clonic seizure, Ataxia, Tonic seizure, Focal tonic seizure, Myoclonic seizure, At... OMIM:617106
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Bilateral tonic-clonic seizure, Chorea, Generalized non-motor (absence) seizure, M... OMIM:617600
Epilepsy, Progressive Myoclonic, 6
Bilateral tonic-clonic seizure, Ataxia, Generalized non-motor (absence) seizure, Myoclonus, Myocl... OMIM:614018
Benign Familial Neonatal-Infantile Seizures
Bilateral tonic-clonic seizure, Tonic seizure, Vertigo, Focal clonic seizure, Episodic ataxia, Ne... ORPHA:140927
Developmental And Epileptic Encephalopathy 99
Epileptic spasm, Multifocal seizures, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemicl... OMIM:619606
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Focal hemifacial clonic seizure, Bilateral tonic-clonic seizure, Focal motor seizure, Myoclonus OMIM:608105
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Clonic seizure, Self-injurious behavior, Seizure, Polymicrogyria, Abnormal repetitive mannerisms OMIM:615282
Intellectual Developmental Disorder, X-Linked 101
Seizure, Hyperactivity, Macrotia OMIM:300928
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Hyperactivity, Infantile spasms, Aggressive behavior, Self-injurious behavior, Seizure OMIM:619031
Generalized Epilepsy With Febrile Seizures Plus, Type 2
Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Focal-onset seizure, Generalized non-mo... OMIM:604403
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders
Seizure, Periventricular nodular heterotopia, Abnormal repetitive mannerisms, Attention deficit h... OMIM:620065
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Seizure, Abnormal lateral ventricle morphology, Bilateral tonic-clonic seizure, Gait ataxia ORPHA:488635
Peho-Like Syndrome
Bilateral tonic-clonic seizure, Lissencephaly, Myoclonus, Status epilepticus, Pachygyria, Polymic... OMIM:617507
Pachygyria With Impaired Intellectual Development, Seizures, And Arachnoid Cysts
Pachygyria, Bilateral tonic-clonic seizure, Atypical absence seizure OMIM:600176
Epilepsy, Familial Adult Myoclonic, 1
Generalized myoclonic seizure, Bilateral tonic-clonic seizure OMIM:601068
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Focal-onset seizure, Chorea, Self-injurious behavior, Convulsive status epilepticus, Stereotypica... OMIM:618760
Developmental And Epileptic Encephalopathy 52
Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Limb ataxia, Seizure, Atypical absence ... OMIM:617350
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Epileptic spasm, Bilateral tonic-clonic seizure, Ataxia, Impulsivity, Aggressive behavior, Tonic ... OMIM:619580
Developmental And Epileptic Encephalopathy 37
Multifocal seizures, Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Chorea, Choreoathe... OMIM:616981
Epilepsy, Idiopathic Generalized, Susceptibility To, 7
Bilateral tonic-clonic seizure, Myoclonus OMIM:604827
Epilepsy, Idiopathic Generalized, Susceptibility To, 12
Bilateral tonic-clonic seizure OMIM:614847
Seizures, Benign Familial Neonatal, 3
Bilateral tonic-clonic seizure OMIM:608217
Chromosome 3Q29 Deletion Syndrome
Hyperactivity, Posteriorly rotated ears, Aggressive behavior, Gait ataxia, Low-set ears, Macrotia... OMIM:609425
7Q31 Microdeletion Syndrome
Hyperactivity, Hypoplasia of the cochlea, Patent ductus arteriosus after birth at term, Hypoplasi... ORPHA:251061
Behavioral Variant Of Frontotemporal Dementia
Restrictive behavior, Collectionism, Restlessness, Bilateral tonic-clonic seizure, Aggressive beh... ORPHA:275864
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Chorea, Bilateral tonic-clonic seizure, Ataxia OMIM:618425
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Bilateral tonic-clonic seizure with generalized onset, Ataxia, Focal-onset seizure, Myoclonic sei... OMIM:619092
Epilepsy, Myoclonic Juvenile
Morning myoclonic jerks, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure,... OMIM:254770
N-Acetylaspartate Deficiency
Seizure, Abnormal repetitive mannerisms, Self-mutilation, Truncal ataxia OMIM:614063
Pontocerebellar Hypoplasia, Type 11
Ataxia, Limb ataxia, Self-injurious behavior, Agenesis of corpus callosum, Seizure, Attention def... OMIM:617695
Cerebral Creatine Deficiency Syndrome 2
Bilateral tonic-clonic seizure, Ataxia, Aggressive behavior, Seizure, Myoclonus, Febrile seizure ... OMIM:612736
Infantile Cerebellar-Retinal Degeneration
Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Sensorineural hearing impairment, At... OMIM:614559
Epilepsy, Familial Adult Myoclonic, 3
Focal-onset seizure, Bilateral tonic-clonic seizure, Myoclonus OMIM:613608
Myoclonic Epilepsy Of Unverricht And Lundborg
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Ataxia, Myoclonus OMIM:254800
Alternating Hemiplegia Of Childhood 1
Choreoathetosis, Bilateral tonic-clonic seizure OMIM:104290
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... OMIM:309548
Smith-Magenis syndrome
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation DECIPHER:8
Perioral Myoclonia With Absences
Bilateral tonic-clonic seizure, Focal seizure with eyelid myoclonia, Generalized non-motor (absen... ORPHA:139426
Lissencephaly Due To Tuba1A Mutation
Agyria, Bilateral tonic-clonic seizure, Infantile spasms, Dysplastic corpus callosum, Partial age... ORPHA:171680
Neurodevelopmental Disorder With Involuntary Movements
Bilateral tonic-clonic seizure, Infantile spasms, Chorea, Self-injurious behavior, Athetosis, Foc... OMIM:617493
Progressive Myoclonic Epilepsy Type 3
Progressive truncal ataxia, Bilateral tonic-clonic seizure, Progressive cerebellar ataxia, Chin m... ORPHA:263516
Rolandic Epilepsy
Focal hemifacial clonic seizure, Bilateral tonic-clonic seizure with focal onset, Dysesthesia, Fo... ORPHA:1945
Generalized Epilepsy With Febrile Seizures Plus, Type 9
Bilateral tonic-clonic seizure, Tonic seizure, Generalized non-motor (absence) seizure, Focal imp... OMIM:616172
Developmental And Epileptic Encephalopathy 103
Hyperactivity, Epileptic spasm, Bilateral tonic-clonic seizure, Ataxia, Tonic seizure, Tonic stat... OMIM:619913
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Bilateral tonic-clonic seizure, Focal-onset seizure, Seizure, Focal impaired awareness seizure, S... ORPHA:330050
Developmental And Epileptic Encephalopathy 66
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Tonic seizure, C... OMIM:618067
Developmental And Epileptic Encephalopathy 58
Seizure, Abnormal repetitive mannerisms, Status epilepticus OMIM:617830
Cerebellar Atrophy, Developmental Delay, And Seizures
Bilateral tonic-clonic seizure with focal onset, Myoclonic seizure OMIM:617643
Spinocerebellar Ataxia 48
Bilateral tonic-clonic seizure, Ataxia, Chorea, Dysmetria, Gait ataxia, Dysphagia OMIM:618093
Intellectual Developmental Disorder With Autism And Speech Delay
Pachygyria, Abnormal repetitive mannerisms OMIM:606053
Developmental And Epileptic Encephalopathy 91
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Focal motor seizure, Myoclonic se... OMIM:617711
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome
Chorea, Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence... ORPHA:79137
Developmental And Epileptic Encephalopathy 34
Bilateral tonic-clonic seizure with focal onset, Focal hemiclonic seizure, Focal-onset seizure, S... OMIM:616645
Centralopathic Epilepsy
Focal-onset seizure, Bilateral tonic-clonic seizure with focal onset, Nocturnal seizures OMIM:117100
Ritscher-Schinzel Syndrome 4
Bilateral tonic-clonic seizure, Ataxia, Impulsivity, Aggressive behavior, Focal-onset seizure, Ch... OMIM:619435
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Impulsivity, Seizure, Attention deficit hyperactivity disorder, Febrile seizure (w... OMIM:301008
Sulfite Oxidase Deficiency, Isolated
Ataxia, Bilateral tonic-clonic seizure, Choreoathetosis, Agitation, Macrotia OMIM:272300
Encephalopathy Due To Prosaposin Deficiency
Bilateral tonic-clonic seizure, Myoclonus ORPHA:139406
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Epileptic spasm, Bilateral tonic-clonic seizure, Focal-onset seizure, Myoclonus, Febrile seizure ... ORPHA:289266
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, Self-injurious behavior, Seizure, Low-set ears, Bruxism, Abnormal repetitive manne... OMIM:618718
Autism, Susceptibility To, X-Linked 2
Restrictive behavior, Seizure, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:300495
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Bilateral tonic-clonic seizure, Ataxia, Chorea, Nocturnal seizures, Myoclonus, Attention deficit ... OMIM:619725
Intellectual Developmental Disorder, Autosomal Recessive 41
Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizur... OMIM:615637
Epilepsy, Idiopathic Generalized, Susceptibility To, 14
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Generalized myo... OMIM:616685
Late Infantile Neuronal Ceroid Lipofuscinosis
Hyperactivity, Bilateral tonic-clonic seizure, Ataxia, Atonic seizure, Aggressive behavior, Focal... ORPHA:168491
Spastic Ataxia 5, Autosomal Recessive
Spastic ataxia, Bilateral tonic-clonic seizure, Ataxia, Dysmetria, Dysdiadochokinesis, Myoclonus,... OMIM:614487
Developmental And Epileptic Encephalopathy 49
Hyperactivity, Bilateral tonic-clonic seizure, Tonic seizure, Dysplastic corpus callosum, Hydroce... OMIM:617281
Epilepsy, Idiopathic Generalized
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) se... OMIM:600669
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl... OMIM:600791
Developmental And Epileptic Encephalopathy 47
Bilateral tonic-clonic seizure, Ataxia, Tonic seizure, Focal-onset seizure, Limb ataxia, Status e... OMIM:617166
Sarcosinemia
Ataxia, Bilateral tonic-clonic seizure, Infantile sensorineural hearing impairment ORPHA:3129
Epilepsy, Idiopathic Generalized, Susceptibility To, 17
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:602477
Febrile Seizures, Familial, 1
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:121210
Febrile Seizures, Familial, 5
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:609255
Febrile Seizures, Familial, 6
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:609253
Febrile Seizures, Familial, 4
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:604352
Dihydropyrimidine Dehydrogenase Deficiency
Seizure, Hyperactivity, Agenesis of corpus callosum OMIM:274270
Brain Small Vessel Disease 2
Focal-onset seizure, Subcortical heterotopia, Bilateral tonic-clonic seizure, Polymicrogyria OMIM:614483
Seizures, Benign Familial Infantile, 3
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal impaired a... OMIM:607745
Generalized Epilepsy With Febrile Seizures Plus, Type 7
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Feb... OMIM:613863
Distal Deletion 10Q
Abnormal morphology of the vestibule of the inner ear, Ataxia, Aggressive behavior, Congenital se... ORPHA:96148
Intellectual Developmental Disorder, Autosomal Recessive 58
Aggressive behavior, Pica, Choreoathetosis, Self-injurious behavior, Abnormal repetitive mannerisms OMIM:617270
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly
Posteriorly rotated ears, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure... OMIM:616281
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Severe temper tantrums, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, ... OMIM:619854
Glycosylphosphatidylinositol Biosynthesis Defect 15
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Dysmetria, Myoclonic sei... OMIM:617810
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion
Complex febrile seizure, Seizure precipitated by febrile infection, Bilateral tonic-clonic seizur... ORPHA:363549
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Hyperactivity, Aggressive behavior, Seizure, Recurrent otitis media, Agenesis of corpus callosum OMIM:615286
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Infantile spasms, Tonic seizure, Focal-onset seizure, Seizure, Abnormal repetitive mannerisms, No... OMIM:617393
Juvenile Absence Epilepsy
Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizur... ORPHA:1941
Rasmussen Subacute Encephalitis
Epilepsia partialis continua, Hyperactivity, Repeated focal motor seizures, Bilateral tonic-cloni... ORPHA:1929
Lissencephaly 9 With Complex Brainstem Malformation
Bilateral tonic-clonic seizure, Infantile spasms, Myoclonic seizure, Seizure, Lissencephaly, Foca... OMIM:618325
Intellectual Developmental Disorder, X-Linked 98
Hyperactivity, Bilateral tonic-clonic seizure, Ataxia, Atonic seizure, Aggressive behavior, Tonic... OMIM:300912
Autosomal Recessive Frontotemporal Pachygyria
Seizure, Pachygyria, Bilateral tonic-clonic seizure ORPHA:329329
Apert Syndrome
Hydrocephalus, Sensorineural hearing impairment, Abnormal semicircular canal morphology, Conducti... ORPHA:87
Mitochondrial Complex I Deficiency, Nuclear Type 15
Bilateral tonic-clonic seizure, Hearing impairment OMIM:618237
Unilateral Focal Polymicrogyria
Bilateral tonic-clonic seizure with focal onset, Simple febrile seizure, Aggressive behavior, Foc... ORPHA:268947
Kohlschutter-Tonz Syndrome
Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Myoclonic seizure, Seizure OMIM:226750
Intellectual Developmental Disorder With Seizures And Language Delay
Bilateral tonic-clonic seizure, Myoclonic absence seizure, Myoclonic seizure OMIM:619000
Intellectual Developmental Disorder, Autosomal Dominant 5
Seizure, Bilateral tonic-clonic seizure, Myoclonic absence seizure OMIM:612621
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Multifocal seizures, Bilateral tonic-clonic seizure, Ataxia, Sensorineural hearing impairment, Ge... OMIM:618170
Intellectual Developmental Disorder, Autosomal Dominant 7
Hyperactivity, Abnormal pinna morphology, Ataxia, Seizure, Inappropriate laughter, Thickened heli... OMIM:614104
Cochleosaccular Degeneration-Cataract Syndrome
Progressive sensorineural hearing impairment, Seizure, Ataxia, Cochlear degeneration ORPHA:3233
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Infantile spasms... OMIM:619428
Epilepsy, Idiopathic Generalized, Susceptibility To, 10
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Gen... OMIM:613060
Epilepsy, Familial Temporal Lobe, 2
Bilateral tonic-clonic seizure, Febrile status epilepticus, Focal impaired awareness seizure, Foc... OMIM:608096
Generalized Epilepsy With Febrile Seizures Plus, Type 1
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:604233
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Bilateral tonic-clonic seizure, Myoclonus, Ataxia OMIM:619065
Cntnap2-Related Developmental And Epileptic Encephalopathy
Hyperactivity, Ataxia, Bilateral tonic-clonic seizure with focal onset, Aggressive behavior, Abno... ORPHA:163681
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Bilateral tonic-clonic seizure, Ataxia, Aggressive behavior, Protruding ear, Seizure, Low-set ear... ORPHA:481152
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Generalized-onset seizure, Ataxia, Bilateral tonic-clonic seizure with focal onset... OMIM:610042
Ceroid Lipofuscinosis, Neuronal, 3
Seizure, Bilateral tonic-clonic seizure, Myoclonus OMIM:204200
Severe Canavan Disease
Seizure, Bilateral tonic-clonic seizure, Oral-pharyngeal dysphagia ORPHA:314911
Developmental Delay And Seizures With Or Without Movement Abnormalities
Generalized myoclonic seizure, Ataxia, Bilateral tonic-clonic seizure, Myoclonic absence seizure OMIM:617836
Developmental And Epileptic Encephalopathy 108
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure with focal ... OMIM:620115
Intellectual Developmental Disorder, X-Linked 100
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:300923
Pendred Syndrome
Ataxia, Vertigo, Sensorineural hearing impairment, Abnormality of the inner ear, Hypoplasia of th... ORPHA:705
Rolandic Epilepsy-Speech Dyspraxia Syndrome
Focal-onset seizure, Seizure, Bilateral tonic-clonic seizure with focal onset ORPHA:163721
Encephalopathy, Progressive, With Or Without Lipodystrophy
Seizure, Hyperactivity, Ataxia, Myoclonus OMIM:615924
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Aggressive behavior, Anteverted ears, Macrotia, Abnormal repetitive mannerisms OMIM:615541
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Choreoathetosis, Episodic ataxia, Bilateral tonic-clonic seizure, Paresthesia ORPHA:53583
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Aggressive behavior, Prominent crus of helix, Seizure, Attention deficit hyperacti... OMIM:301013
Intellectual Developmental Disorder, Autosomal Recessive 44
Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:615942
Neurodevelopmental Disorder With Hearing Loss And Spasticity
Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Generalized non-motor (abs... OMIM:619616
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Bilateral tonic-clonic seizure, Ataxia, Dysmetria, Dysdiadochokinesis, Myoclonus, Dysphagia, Gene... ORPHA:313772
Severe Neonatal-Onset Encephalopathy With Microcephaly
Seizure, Polymicrogyria, Bilateral tonic-clonic seizure ORPHA:209370
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities
Overfolded helix, Bilateral tonic-clonic seizure, Aggressive behavior OMIM:616083
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Bilateral tonic-clonic seizure, Seizure, Macrotia, Abnormal repetitive mannerisms, Self-mutilation ORPHA:457240
Familial Infantile Myoclonic Epilepsy
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure, Simple feb... ORPHA:352582
Alpers-Huttenlocher Syndrome
Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Choreoathetosis, Myoclonus ORPHA:726
Epilepsy, Juvenile Absence, Susceptibility To, 1
Generalized myoclonic seizure, Bilateral tonic-clonic seizure on awakening, Generalized non-motor... OMIM:607631
Pyruvate Dehydrogenase E1-Alpha Deficiency
Bilateral tonic-clonic seizure, Ataxia, Infantile spasms, Partial agenesis of the corpus callosum... ORPHA:79243
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10
Generalized myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bil... OMIM:617924
Generalized Epilepsy With Febrile Seizures Plus, Type 4
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:609800
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent
Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Myoclonic seizure, Myoclonus OMIM:617290
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures
Bilateral tonic-clonic seizure, Chorea, Seizure, Focal impaired awareness seizure, Status epilept... OMIM:613970
Ck Syndrome
Hyperactivity, Posteriorly rotated ears, Aggressive behavior, Seizure, Pachygyria, Polymicrogyria OMIM:300831
Autosomal Dominant Spastic Paraplegia Type 6
Impaired vibratory sensation, Bilateral tonic-clonic seizure ORPHA:100988
Malignant Migrating Focal Seizures Of Infancy
Epileptic spasm, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset,... ORPHA:293181
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Bilateral tonic-clonic seizure, Ataxia, Sensorineural hearing impairment, Seizure, Generalized my... ORPHA:464282
Oxoglutarate Dehydrogenase Deficiency
Bilateral tonic-clonic seizure, Dysmetria, Gait ataxia OMIM:203740
Fragile X Syndrome
Hyperactivity, Periventricular heterotopia, Macrotia, Self-biting, Seizure, Recurrent hand flapping OMIM:300624
Intellectual Developmental Disorder, Autosomal Dominant 48
Hyperactivity, Patent ductus arteriosus, Sensorineural hearing impairment, Seizure, Lateral ventr... OMIM:617751
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Seizure, Lateral ventricle dilatation, Abnormal repetitive mannerisms, Low-set ears OMIM:613443
D-2-Hydroxyglutaric Aciduria 1
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Myoclonic seizure, Seizure, Late... OMIM:600721
Intellectual Developmental Disorder With Severe Speech And Ambulation Defects
Bilateral tonic-clonic seizure, Infantile spasms OMIM:618470
Epilepsy, Idiopathic Generalized, Susceptibility To, 11
Generalized myoclonic seizure, Bilateral tonic-clonic seizure on awakening, Generalized non-motor... OMIM:607628
Intellectual Developmental Disorder, Autosomal Dominant 34
Hearing impairment, Abnormal repetitive mannerisms, Bilateral tonic-clonic seizure, Bruxism OMIM:616351
Seizures, Benign Familial Neonatal, 1
Febrile seizure (within the age range of 3 months to 6 years), Focal clonic seizure, Bilateral to... OMIM:121200
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay
Bilateral tonic-clonic seizure, Dysmetria, Gait ataxia OMIM:615031
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Spastic ataxia, Seizure, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:618906
Diabetes Mellitus, Permanent Neonatal, 2
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Myoclonic seizure OMIM:618856
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Infantile spasms, Atonic seizure, Prominent ear helix, Generalized non-motor (absence) seizure, L... ORPHA:411986
Febrile Seizures, Familial, 11
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo... OMIM:614418
Intellectual Developmental Disorder, Autosomal Dominant 67
Hyperactivity, Seizure, Compulsive behaviors, Attention deficit hyperactivity disorder, Motor tics OMIM:619927
Cln3 Disease
Bilateral tonic-clonic seizure, Ataxia, Aggressive behavior, Focal-onset seizure, Myoclonic seizu... ORPHA:228346
Usher Syndrome Type 3
Abnormal cochlea morphology, Sensorineural hearing impairment, Vestibular hypofunction, Ataxia ORPHA:231183
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
Bilateral Polymicrogyria
Generalized-onset seizure, Bilateral tonic-clonic seizure, 4-layered lissencephaly, Infantile spa... ORPHA:268940
Epilepsy, Familial Temporal Lobe, 6
Bilateral tonic-clonic seizure with focal onset, Focal impaired awareness seizure, Status epilept... OMIM:615697
D-Glyceric Aciduria
Bilateral tonic-clonic seizure, Patent ductus arteriosus, Tongue thrusting, Sensorineural hearing... OMIM:220120
Houge-Janssens Syndrome 3
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset seiz... OMIM:618354
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Prominent antihelix, Age... OMIM:615802
Usher Syndrome Type 1
Abnormal cochlea morphology, Sensorineural hearing impairment, Vestibular hypofunction, Ataxia ORPHA:231169
Developmental And Epileptic Encephalopathy 102
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Tonic seizure, F... OMIM:619881
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Abnormal repetitive mannerisms, Amyotrophic lateral sclerosis, Disinhibition, Dysphagia OMIM:612069
Juvenile Huntington Disease
Hyperactivity, Ataxia, Chorea, Gait ataxia, Seizure, Progressive cerebellar ataxia, Myoclonus ORPHA:248111
3P25.3 Microdeletion Syndrome
Bilateral tonic-clonic seizure, Ataxia, Patent ductus arteriosus, Sensorineural hearing impairmen... ORPHA:435638
Seizures, Benign Familial Infantile, 1
Focal-onset seizure, Generalized-onset seizure, Focal impaired awareness seizure, Bilateral tonic... OMIM:601764
Autism Spectrum Disorder Due To Auts2 Deficiency
Hyperactivity, Repetitive compulsive behavior, Seizure, Compulsive behaviors, Attention deficit h... ORPHA:352490
Christianson Syndrome
Generalized-onset seizure, Truncal ataxia, Gait ataxia, Inappropriate laughter, Dysphagia, Macrot... ORPHA:85278
X-Linked Intellectual Disability Due To Gria3 Mutations
Pain insensitivity, Bilateral tonic-clonic seizure, Uplifted earlobe, Aggressive behavior, Seizur... ORPHA:364028
Developmental And Epileptic Encephalopathy 93
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Clonic seizure, Focal-onset seiz... OMIM:618012
Glycogen Storage Disease 0, Muscle
Bilateral tonic-clonic seizure OMIM:611556
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Progressive sensorineural hearing impairment, Bilateral tonic-clonic seizure, Bilateral sensorine... OMIM:540000
Obesity, Hyperphagia, And Developmental Delay
Abnormal repetitive mannerisms, Seizure, Polyphagia, Generalized non-motor (absence) seizure OMIM:613886
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Protruding ear, Bilateral tonic-clonic seizure, Focal impaired awareness seizure OMIM:617468
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Spastic ataxia, Somatic sensory dysfunction, Bilateral tonic-clonic seizure, Aggressive behavior,... ORPHA:199354
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Hyperactivity, Ataxia, Aggressive behavior, Choreoathetosis, Seizure OMIM:612716
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Hyperactivity, Impulsivity, Aggressive behavior, Impaired pain sensation, Chorea, Gait ataxia, Se... ORPHA:500180
Smith-Magenis Syndrome
Hyperactivity, Impaired pain sensation, Self hugging, Abnormality of the outer ear, Head-banging,... OMIM:182290
Childhood Absence Epilepsy
Bilateral tonic-clonic seizure, Typical absence seizure, Punding, Attention deficit hyperactivity... ORPHA:64280
Xq28 (MECP2) duplication
Gait ataxia, Seizure, Dysphagia, Macrotia, Abnormal repetitive mannerisms DECIPHER:45
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Aggressive behavior, Seizure, Febrile seizure (within the age range of 3 months to... OMIM:615516
4Q21 Microdeletion Syndrome
Self-injurious behavior, Seizure, Agenesis of corpus callosum, Low-set ears, Abnormal repetitive ... ORPHA:238750
Chromosome 2Q37 Deletion Syndrome
Hyperactivity, Pain insensitivity, Aggressive behavior, Sensorineural hearing impairment, Self-in... OMIM:600430
Cataracts, Spastic Paraparesis, And Speech Delay
Complex febrile seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure,... OMIM:619338
Developmental And Epileptic Encephalopathy 41
Epileptic spasm, Bilateral tonic-clonic seizure, Focal tonic seizure, Myoclonic seizure, Myocloni... OMIM:617105
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Seizure, Hyperactivity, Hearing impairment, Aggressive behavior ORPHA:457260
Systemic Primary Carnitine Deficiency
Bilateral tonic-clonic seizure with focal onset ORPHA:158
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Restlessness, Aggressive behavior, Inappropriate behavior, Disinhibition, Myoclonus, Abnormal rep... OMIM:600795
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, Ataxia, Sensorineural hearing impairment, Distal sensory imp... OMIM:609136
Intellectual Developmental Disorder, Autosomal Dominant 42
Myoclonic seizure, Tonic seizure, Focal hemiclonic seizure, Seizure, Myoclonus, Febrile seizure (... OMIM:616973
Mercaptolactate-Cysteine Disulfiduria
Bilateral tonic-clonic seizure OMIM:249650
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Focal polymicrogyria, Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Head-b... OMIM:619103
Intellectual Developmental Disorder, X-Linked 21
Seizure, Hyperactivity, Uplifted earlobe, Impulsivity OMIM:300143
Juvenile Neuronal Ceroid Lipofuscinosis
Bilateral tonic-clonic seizure, Seizure, Myoclonic spasms, Dysphagia, Abnormal repetitive mannerisms ORPHA:79264
Developmental And Epileptic Encephalopathy 106
Focal clonic seizure, Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure OMIM:620028
Developmental And Epileptic Encephalopathy 4
Epileptic spasm, Bilateral tonic-clonic seizure, Choreoathetosis, Status epilepticus, Generalized... OMIM:612164
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure, Tongue thr... ORPHA:98795
Neuromuscular Oculoauditory Syndrome
Bilateral tonic-clonic seizure, Posteriorly rotated ears, Infantile spasms, Periventricular heter... OMIM:618733
Cln5 Disease
Hyperactivity, Generalized-onset seizure, Ataxia, Aggressive behavior, Focal-onset seizure, Dysme... ORPHA:228360
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Restlessness, Bilateral tonic-clonic seizure, Infantile spasms, Sensorineural hearing impairment,... ORPHA:544503
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Focal hyperkinetic seizure, Bilateral tonic-clonic seizure, Attention deficit hyperactivity disor... ORPHA:98784
Chromosome 22Q13 Duplication Syndrome
Bilateral tonic-clonic seizure, Impulsivity, Status epilepticus, Attention deficit hyperactivity ... OMIM:615538
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Bilateral tonic-clonic seizure, Dysmetria, Gait ataxia, Seizure, Status epilepticus ORPHA:529665
Waardenburg Syndrome, Type 2E
Aplasia of the semicircular canal, Sensorineural hearing impairment, Hypoplasia of the semicircul... OMIM:611584
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Bilateral tonic-clonic seizure, Seizure, Athetosis, Focal impaired awareness seizure, Polydipsia,... ORPHA:369929
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Bilateral tonic-clonic seizure OMIM:240900
Holoprosencephaly 14
Bilateral tonic-clonic seizure, Alobar holoprosencephaly, Aqueductal stenosis, Periventricular he... OMIM:619895
Woolly Hair Nevus
Enlarged vestibular aqueduct ORPHA:79414
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Bilateral tonic-clonic seizure with focal onset, Clonic seizure, Seizure, Status epilepticus, Myo... OMIM:610539
Intellectual Developmental Disorder, Autosomal Recessive 71
Seizure, Macrotia, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:618504
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Hyperactivity, Bilateral tonic-clonic seizure, Posteriorly rotated ears, Tonic seizure, Aqueducta... OMIM:619512
Coffin-Siris Syndrome 6
Posteriorly rotated ears, Seizure, Tics, Attention deficit hyperactivity disorder, Low-set ears, ... OMIM:617808
Deafness-Hypogonadism Syndrome
Stapes ankylosis, Abnormality of the middle ear ossicles, Severe conductive hearing impairment, C... ORPHA:90646
Lopes-Maciel-Rodan Syndrome
Bruxism, Seizure, Agitation, Focal impaired awareness seizure, Dysphagia, Abnormal repetitive man... OMIM:617435
Spinocerebellar Ataxia With Epilepsy
Bilateral tonic-clonic seizure with focal onset, Dysmetria, Gait ataxia, Progressive cerebellar a... ORPHA:254881
Amish Lethal Microcephaly
Agenesis of corpus callosum, Bilateral tonic-clonic seizure, Spina bifida, Lissencephaly ORPHA:99742
Radio-Tartaglia Syndrome
Ataxia, Impulsivity, Aggressive behavior, Agenesis of corpus callosum, Gray matter heterotopia, S... OMIM:619312
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Multifocal seizures, Bilateral tonic-clonic seizure, Ataxia, Infantile spasms, Sensorineural hear... ORPHA:480864
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Hyperactivity, Aggressive behavior, Sensorineural hearing impairment, Protruding ear, Attention d... OMIM:618342
Myoclonic-Astatic Epilepsy
Hyperactivity, Epileptic spasm, Bilateral tonic-clonic seizure with generalized onset, Ataxia, Si... ORPHA:1942
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome
Bilateral tonic-clonic seizure, Seizure, Focal impaired awareness seizure, Overfolded helix, Poly... ORPHA:488613
Branchiootorenal Syndrome 1
Mixed hearing impairment, Dilatated internal auditory canal, Hypoplasia of the cochlea, Cupped ea... OMIM:113650
2Q23.1 Microdeletion Syndrome
Hyperactivity, Ataxia, Abnormal repetitive mannerisms, Self-injurious behavior, Seizure, Polyphag... ORPHA:228402
Developmental And Epileptic Encephalopathy 100
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Focal-onset seizure, Typical abs... OMIM:619777
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Hyperactivity, Tonic seizure, Aggressive behavior, Sensorineural hearing impairment, Self-injurio... OMIM:620075
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Pain insensitivity, Ataxia, Tonic seizure, Repetitive compulsive behavior, Chorea, Bruxism, Gener... OMIM:300260
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Seizure, Bilateral tonic-clonic seizure OMIM:300423
Fg Syndrome 3
Hyperactivity, Agenesis of corpus callosum, Sensorineural hearing impairment OMIM:300406
Intellectual Developmental Disorder, X-Linked 77
Febrile seizure (within the age range of 3 months to 6 years), Hyperactivity OMIM:300454
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Lateral ventricle dilatation, Bilateral tonic-clonic seizure OMIM:619278
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Hyperactivity, Posteriorly rotated ears, Ataxia, Aggressive behavior, Seizure, Compulsive behavio... OMIM:618430
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Pain insensitivity, Aggressive behavior, Seizure, Attention deficit hyperactivity disorder, Obses... OMIM:618825
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Impulsivity, Aggressive behavior, Myelomeningocele, Attention deficit hyperactivit... OMIM:620141
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Bilateral tonic-clonic seizure, Head-banging OMIM:619356
Optic Atrophy 11
Hyperactivity, Ataxia, Dysmetria, Seizure, Athetosis, Stereotypical body rocking, Attention defic... OMIM:617302
Mitochondrial Complex I Deficiency, Nuclear Type 13
Bilateral tonic-clonic seizure, Focal motor seizure OMIM:618235
Migraine, Familial Hemiplegic, 2
Bilateral tonic-clonic seizure, Vertigo, Focal motor seizure, Dysmetria, Gait ataxia, Episodic at... OMIM:602481
Developmental And Epileptic Encephalopathy 64
Chorea, Self-injurious behavior, Seizure, Status epilepticus, Bruxism, Macrotia, Abnormal repetit... OMIM:618004
Autism, Susceptibility To, 3
Restrictive behavior, Seizure, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:608049
Chromosome 5P13 Duplication Syndrome
Posteriorly rotated ears, Self-injurious behavior, Seizure, Agenesis of corpus callosum, Compulsi... OMIM:613174
Shukla-Vernon Syndrome
Impulsivity, Aggressive behavior, Seizure, Attention deficit hyperactivity disorder, Abnormal rep... OMIM:301029
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Bilateral tonic-clonic seizure, Underfolded helix, Posteriorly rotated ears, Focal-onset seizure,... OMIM:618316
Foxg1 Syndrome Due To 14Q12 Microdeletion
Protruding ear, Abnormal antihelix morphology, Seizure, Agenesis of corpus callosum, Abnormal rep... ORPHA:261144
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Bilateral tonic-clonic seizure, Infantile spasms, Sensorineural hearing impairment, Generalized n... ORPHA:457351
Developmental And Epileptic Encephalopathy 90
Focal-onset seizure, Bilateral tonic-clonic seizure, Focal impaired awareness seizure OMIM:301058
Congenital Insensitivity To Pain With Severe Intellectual Disability
Impaired tactile sensation, Pain insensitivity, Bilateral tonic-clonic seizure, Self-mutilation ORPHA:453510
Combined Oxidative Phosphorylation Deficiency 27
Bilateral tonic-clonic seizure, Chorea, Status epilepticus, Myoclonus, Hearing impairment OMIM:616672
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Bilateral tonic-clonic seizure with focal onset, Aggressive behavior, Dysplastic corpus callosum,... ORPHA:488627
Branchiootic Syndrome 1
Mixed hearing impairment, Dilatated internal auditory canal, Hypoplasia of the cochlea, Cupped ea... OMIM:602588
Developmental And Epileptic Encephalopathy 8
Frontal polymicrogyria, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Tonic s... OMIM:300607
Glass Syndrome
Restlessness, Hyperactivity, Bilateral tonic-clonic seizure, Posteriorly rotated ears, Aggressive... OMIM:612313
Developmental And Epileptic Encephalopathy 61
Seizure, Focal clonic seizure, Bilateral tonic-clonic seizure with focal onset OMIM:617933
Inverted Duplicated Chromosome 15 Syndrome
Low-set, posteriorly rotated ears, Hyperactivity, Aggressive behavior, Self-biting, Seizure, Abno... ORPHA:3306
Canavan Disease
Epileptic spasm, Bilateral tonic-clonic seizure, Hearing impairment OMIM:271900
Developmental And Epileptic Encephalopathy 95
Multifocal seizures, Bilateral tonic-clonic seizure, Posteriorly rotated ears, Ataxia, Focal-onse... OMIM:618143
Charge Syndrome
Low-set, posteriorly rotated ears, Aqueductal stenosis, External ear malformation, Patent ductus ... ORPHA:138
Pick Disease Of Brain
Abnormal repetitive mannerisms, Polyphagia, Inappropriate laughter, Disinhibition OMIM:172700
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Hyperactivity, Aggressive behavior, Macrotia, Self-injurious behavior, Seizure, Abnormal temper t... ORPHA:449291
Biotinidase Deficiency
Bilateral tonic-clonic seizure, Ataxia, Infantile spasms, Myelopathy, Sensorineural hearing impai... ORPHA:79241
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Spastic ataxia, Focal-onset seizure, Partial agenesis of the corpus callosum, Sensorineural heari... ORPHA:300570
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome
Focal clonic seizure, Low-set ears, Bilateral tonic-clonic seizure OMIM:618381
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Low-set, posteriorly rotated ears, Holoprosencephaly, Narrow internal auditory canal, Agenesis of... ORPHA:990
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Bilateral tonic-clonic seizure, Ataxia, Patent ductus arteriosus, Generalized non-motor (absence)... OMIM:615398
Potocki-Lupski Syndrome
Hyperactivity, Oral-pharyngeal dysphagia, Seizure, Abnormal repetitive mannerisms, Hearing impair... OMIM:610883
Alazami Syndrome
Abnormal eating behavior, Seizure, Low-set ears, Abnormal repetitive mannerisms, Self-mutilation,... ORPHA:319671
Adenylosuccinase Deficiency
Hyperactivity, Aggressive behavior, Gait ataxia, Seizure, Inappropriate laughter, Myoclonus, Low-... OMIM:103050
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hyperactivity, Bilateral tonic-clonic seizure, Infantile spasms, Hair-pulling, Protruding ear, My... ORPHA:447997
Mohr-Tranebjaerg Syndrome
Abnormal vestibular function, Absent brainstem auditory responses, Sensorineural hearing impairme... ORPHA:52368
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Focal-onset seizure, Seizure, Status epilepticus, Bilateral conductive hearing impairment, Low-se... OMIM:617802
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Congenital sensorineural hearing impairment, Patent ductus arteriosus, Sensorineural hearing impa... ORPHA:500159
Early Infantile Epileptic Encephalopathy
Hyperactivity, Bilateral tonic-clonic seizure, Infantile spasms, Generalized clonic seizure, Foca... ORPHA:1934
Jaberi-Elahi Syndrome
Bilateral tonic-clonic seizure, Dysmetria, Protruding ear, Choreoathetosis, Gait ataxia, Low-set ... OMIM:617988
X-Linked Intellectual Disability, Hedera Type
Atonic seizure, Dysmetria, Bilateral tonic-clonic seizure ORPHA:93952
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Impulsivity, Aggressive behavior, Cupped ear, Self-injurious behavior, Lateral ventricle dilatati... OMIM:618914
1Q44 Microdeletion Syndrome
Hydrocephalus, Agenesis of corpus callosum, Bilateral tonic-clonic seizure ORPHA:238769
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Bilateral tonic-clonic seizure ORPHA:457205
Den Hoed-De Boer-Voisin Syndrome
Posteriorly rotated ears, Ataxia, Generalized clonic seizure, Focal-onset seizure, Focal myocloni... OMIM:619229
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Bilateral tonic-clonic seizure, Ataxia, Dysphagia, Febrile seizure (within the age range of 3 mon... ORPHA:496641
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Pain insensitivity, Aggressive behavior, Patent ductus arteriosus, Self-injurious behavior, Seizu... OMIM:617061
Deafness, X-Linked 2
Stapes ankylosis, Mixed hearing impairment, Dilatated internal auditory canal, Congenital sensori... OMIM:304400
Rett Syndrome, Congenital Variant
Chorea, Tongue thrusting, Simplified gyral pattern, Protruding ear, Seizure, Athetosis, Bruxism, ... OMIM:613454
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Hydrocephalus, Sensorineural hearing impairment, Head-banging, Self-injurious behavior, Lateral v... OMIM:619575
Lamb-Shaffer Syndrome
Hyperactivity, Ataxia, Seizure, Abnormal temper tantrums, Abnormal repetitive mannerisms ORPHA:530983
Pendred Syndrome
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear malformation OMIM:274600
47,Xyy Syndrome
Hyperactivity, Impulsivity, Hydrocephalus, Seizure, Attention deficit hyperactivity disorder, Low... ORPHA:8
Dk1-Cdg
Focal-onset seizure, Seizure, Bilateral tonic-clonic seizure, Infantile spasms ORPHA:91131
Developmental And Epileptic Encephalopathy 18
Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Tonic seizure, Focal-... OMIM:615476
Deafness, Autosomal Dominant 80
Congenital sensorineural hearing impairment, Dilated vestibule of the inner ear, Cochlear aplasia OMIM:619274
New-Onset Refractory Status Epilepticus
Seizure precipitated by febrile infection, Bilateral tonic-clonic seizure with focal onset, Focal... ORPHA:363558
Epilepsy, Familial Adult Myoclonic, 2
Bilateral tonic-clonic seizure, Myoclonus, Ataxia OMIM:607876
Lafora Disease
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Ataxia, Focal-on... ORPHA:501
Intellectual Developmental Disorder, Autosomal Dominant 52
Hyperactivity, Asymmetry of the ears, Sensorineural hearing impairment, Pica, Seizure, Low-set ea... OMIM:617796
Mosaic Variegated Aneuploidy Syndrome 1
Bilateral tonic-clonic seizure, Posteriorly rotated ears, Hydrocephalus, Seizure, Low-set ears, G... OMIM:257300
Warburg Micro Syndrome 3
Macrotia, Polymicrogyria, Bilateral tonic-clonic seizure, Myoclonic seizure OMIM:614222
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Hyperactivity, Gait ataxia, Seizure, Macrotia, Abnormal repetitive mannerisms, Self-mutilation OMIM:300486
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Bilateral tonic-clonic seizure, Posteriorly rotated ears, Aggressive behavior, Sensorineural hear... ORPHA:466943
22Q11.2 Duplication Syndrome
Anterior creases of earlobe, Seizure, Attention deficit hyperactivity disorder, Compulsive behavi... ORPHA:1727
Weaver Syndrome
Bilateral tonic-clonic seizure, Patent ductus arteriosus, Generalized non-motor (absence) seizure... OMIM:277590
Pelger-Huet Anomaly
Recurrent otitis media, Seizure, Bilateral tonic-clonic seizure OMIM:169400
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Hydrocephalus, Generalized non-motor... ORPHA:395
Short Stature, Developmental Delay, And Congenital Heart Defects
Patent ductus arteriosus, Self-injurious behavior, Attention deficit hyperactivity disorder, Comp... OMIM:617044
Intellectual Developmental Disorder, Autosomal Dominant 38
Ataxia, Infantile spasms, Aggressive behavior, Hair-pulling, Self-injurious behavior, Low-set ear... OMIM:616393
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... ORPHA:42
Epilepsy, X-Linked 2, With Or Without Impaired Intellectual Development And Dysmorphic Features
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Generalized non-motor (absence) s... OMIM:301091
Developmental And Speech Delay Due To Sox5 Deficiency
Aggressive behavior, Self-injurious behavior, Seizure, Attention deficit hyperactivity disorder, ... ORPHA:313892
Coenzyme Q10 Deficiency, Primary, 3
Bilateral tonic-clonic seizure with focal onset, Focal motor status epilepticus OMIM:614652
Snijders Blok-Campeau Syndrome
Infantile spasms, Myoclonic seizure, Low-set ears, Attention deficit hyperactivity disorder, Abno... OMIM:618205
Hartsfield Syndrome
Bilateral tonic-clonic seizure, Posteriorly rotated ears, Alobar holoprosencephaly, Lobar holopro... OMIM:615465
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Bilateral tonic-clonic seizure, Sensorineural hearing impairment, Generalized non-motor (absence)... OMIM:614207
Macrocephaly-Developmental Delay Syndrome
Abnormal speech discrimination, Self-injurious behavior, Seizure, Abnormal repetitive mannerisms ORPHA:397612
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Bilateral tonic-clonic seizure, Repetitive compulsive behavior, Generalized non-motor (absence) s... ORPHA:513456
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Ataxia, Aggressive behavior, Self-injurious behavior, Seizure, Attention deficit hyperactivity di... OMIM:300986
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome
Infantile spasms, Myoclonic seizure, Dysphagia, Pachygyria, Abnormal repetitive mannerisms ORPHA:572013
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Seizure, Bilateral tonic-clonic seizure, Focal motor seizure OMIM:619911
Alternating Hemiplegia Of Childhood
Bilateral tonic-clonic seizure, Ataxia, Impulsivity, Aggressive behavior, Anorexia, Oral-pharynge... ORPHA:2131
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Bilateral tonic-clonic seizure OMIM:618120
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Hyperactivity, Macrotia, Abnormal repetitive mannerisms, Aggressive behavior ORPHA:391307
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Bilateral tonic-clonic seizure, Posteriorly rotated ears, Simple febrile seizure, Aggressive beha... ORPHA:466950
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Ataxia, Aggressive behavior, Seizure, Lateral ventricle dilatation, Abnormal temper tantrums, Low... ORPHA:457279
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Frontal polymicrogyria, Epileptic spasm, Generalized-onset seizure, Bilateral tonic-clonic seizur... OMIM:620024
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Epileptic spasm, Bilateral tonic-clonic seizure, Abnormal cortical gyration, Generalized non-moto... ORPHA:79351
Hyperphosphatasia-Intellectual Disability Syndrome
Bilateral tonic-clonic seizure, Ataxia, Cupped ear, Seizure, Myoclonus, Thickened helices ORPHA:247262
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Chorea, Bilateral tonic-clonic seizure, Truncal ataxia ORPHA:369840
Noonan Syndrome
Thickened helices, Aplasia of the semicircular canal, Low-set, posteriorly rotated ears, Sensorin... ORPHA:648
X-Linked Cerebral Adrenoleukodystrophy
Hyperactivity, Ataxia, Myelopathy, Dysmetria, Seizure, Dysphagia, Limb myoclonus, Hearing impairment ORPHA:139396
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Sensorineural hearing impairment, Bilateral tonic-clonic seizure, Low-set ears ORPHA:423479
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Short ear, Hyperactivity, Bilateral tonic-clonic seizure, Posteriorly rotated ears, Ataxia, Aggre... OMIM:614756
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
Hyperactivity, Aggressive behavior, Seizure, Attention deficit hyperactivity disorder, Abnormal r... OMIM:620242
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hyperactivity, Generalized-onset seizure, Self-biting, Seizure, Status epilepticus OMIM:618314
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Bilateral tonic-clonic seizure, Posteriorly rotated ears, Sensorineural hearing impairment, Seizu... OMIM:301040
X-Linked Creatine Transporter Deficiency
Hyperactivity, Ataxia, Chorea, Seizure, Athetosis, Self-mutilation ORPHA:52503
Mitochondrial Dna-Associated Leigh Syndrome
Bilateral tonic-clonic seizure, Ataxia, Infantile spasms, Sensorineural hearing impairment, Chore... ORPHA:255210
Molybdenum Cofactor Deficiency, Complementation Group C
Generalized-onset seizure, Polymicrogyria, Bilateral tonic-clonic seizure, Generalized myoclonic ... OMIM:615501
Sandhoff Disease, Infantile Form
Seizure, Bilateral tonic-clonic seizure, Myoclonus, Myoclonic seizure ORPHA:309155
Developmental And Epileptic Encephalopathy 105 With Hypopituitarism
Focal impaired awareness seizure, Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure OMIM:619983
Fatty Acid Hydroxylase-Associated Neurodegeneration
Focal-onset seizure, Progressive gait ataxia, Bilateral tonic-clonic seizure, Dysphagia ORPHA:329308
Chromosome 15Q11.2 Deletion Syndrome
Ataxia, Seizure, Attention deficit hyperactivity disorder, Compulsive behaviors, Macrotia, Abnorm... OMIM:615656
Hermansky-Pudlak Syndrome 10
Low-set ears, Macrotia, Bilateral tonic-clonic seizure, Focal myoclonic seizure OMIM:617050
3-Methylglutaconic Aciduria, Type Viia
Generalized-onset seizure, Bilateral tonic-clonic seizure, Atypical absence seizure, Myoclonic se... OMIM:619835
Choreoacanthocytosis
Impaired vibratory sensation, Self-mutilation of tongue and lips due to involuntary movements, Hy... ORPHA:2388
Melas
Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Sensorineural hearing impairment, Se... ORPHA:550
Branchiogenic Deafness Syndrome
Mixed hearing impairment, Abnormal pinna morphology, Abnormality of the middle ear ossicles, Sens... ORPHA:50815
Japanese Encephalitis
Bilateral tonic-clonic seizure, Anorexia, Paucity of anterior horn motor neurons, Focal motor sei... ORPHA:79139
Kinsship Syndrome
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Myo... OMIM:619297
Epilepsy, Early-Onset, 2, With Or Without Developmental Delay
Bilateral tonic-clonic seizure OMIM:618832
Intellectual Developmental Disorder, Autosomal Dominant 54
Bilateral tonic-clonic seizure, Ataxia, Aggressive behavior, Seizure, Focal impaired awareness se... OMIM:617799
Xq21 Microdeletion Syndrome
Stapes ankylosis, Ataxia, Dilatated internal auditory canal, Sensorineural hearing impairment, Ga... ORPHA:1435
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures
Pain insensitivity, Bilateral tonic-clonic seizure, Infantile spasms, Generalized non-motor (abse... OMIM:620224
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Low-set, posteriorly rotated ears, Periventricular heterotopia, Simplified gyral pattern, Lobar h... ORPHA:468631
Proximal 16P11.2 Microdeletion Syndrome
Sensorineural hearing impairment, Choreoathetosis, Seizure, Attention deficit hyperactivity disor... ORPHA:261197
Hallermann-Streiff Syndrome
Hyperactivity, Bilateral tonic-clonic seizure, Spina bifida, Choreoathetosis, Low-set ears OMIM:234100
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Bilateral tonic-clonic seizure, Myoclonic seizure OMIM:620070
Childhood Disintegrative Disorder
Seizure, Abnormal repetitive mannerisms ORPHA:168782
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Epileptic spasm, Bilateral tonic-clonic seizure, Ataxia, Seizure, Generalized tonic seizure OMIM:617193
Charge Syndrome
Mixed hearing impairment, Lop ear, Aplasia of the semicircular canal, Patent ductus arteriosus, C... OMIM:214800
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Nail-biting, Pain insensitivity, Bilateral tonic-clonic seizure, Posteriorly rotated ears, Aggres... OMIM:620330
7Q11.23 Microduplication Syndrome
Low-set, posteriorly rotated ears, Collectionism, Hyperactivity, Aggressive behavior, Hydrocephal... ORPHA:96121
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Multifocal seizures, Bilateral tonic-clonic seizure, Posteriorly rotated ears, Infantile spasms, ... OMIM:301044
Intellectual Developmental Disorder, Autosomal Dominant 53
Febrile seizure (within the age range of 3 months to 6 years), Microtia, Bilateral tonic-clonic s... OMIM:617798
Hyperekplexia 3
Bilateral tonic-clonic seizure, Myoclonus OMIM:614618
Megalocornea-Intellectual Disability Syndrome
Ataxia, Sensorineural hearing impairment, Protruding ear, Seizure, Abnormal repetitive mannerisms ORPHA:2479
Kleefstra Syndrome 1
Abnormal pinna morphology, Aggressive behavior, Seizure, Compulsive behaviors, Abnormal repetitiv... OMIM:610253
Kleefstra Syndrome
Aggressive behavior, Chronic otitis media, Self-injurious behavior, Agenesis of corpus callosum, ... ORPHA:261494
Sandhoff Disease
Impaired temperature sensation, Bilateral tonic-clonic seizure, Ataxia, Myoclonic seizure OMIM:268800
Transketolase Deficiency
Patent ductus arteriosus, Self-injurious behavior, Attention deficit hyperactivity disorder, Comp... ORPHA:488618
Bor Syndrome
Abnormality of the middle ear ossicles, External ear malformation, Hypoplasia of the cochlea, Atr... ORPHA:107
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Bilateral tonic-clonic seizure, Hepatocellular necrosis OMIM:201475
Developmental And Epileptic Encephalopathy 2
Generalized-onset seizure, Multifocal seizures, Infantile spasms, Seizure, Myoclonus, Generalized... OMIM:300672
Myoclonic Epilepsy Of Lafora
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Generalized non-... OMIM:254780
Gorham-Stout Disease
Abnormality of the internal auditory canal, Hearing impairment ORPHA:73
Neurodegeneration With Brain Iron Accumulation 2B
Hyperactivity, Impulsivity, Chorea, Dysmetria, Gait ataxia, Seizure, Dysdiadochokinesis, Dysphagia OMIM:610217
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Bilateral tonic-clonic seizure, Hearing impairment, Patent ductus arteriosus, Generalized non-mot... ORPHA:369837
D-Bifunctional Protein Deficiency
Bilateral tonic-clonic seizure, Seizure, Low-set ears, Polymicrogyria, Hearing impairment OMIM:261515
Pseudoleprechaunism Syndrome, Patterson Type
Macrotia, Atonic seizure, Bilateral tonic-clonic seizure ORPHA:2976
De Sanctis-Cacchione Syndrome
Choreoathetosis, Sensorineural hearing impairment, Bilateral tonic-clonic seizure, Ataxia OMIM:278800
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Bilateral tonic-clonic seizure, Ataxia, Aggressive behavior, Typical absence seizure, Protruding ... ORPHA:268261
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Athetosis, Bilateral tonic-clonic seizure, Myoclonic seizure OMIM:615474
X Small Rings
Seizure, Bilateral tonic-clonic seizure, Protruding ear ORPHA:96201
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Bilateral tonic-clonic seizure, Uplifted earlobe, Overfolded helix, Myoclonic seizure, Gait ataxi... OMIM:280000
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome
Bilateral tonic-clonic seizure, Ataxia, Anteverted ears, Focal-onset seizure, Sensorineural heari... ORPHA:459070
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form
Bilateral tonic-clonic seizure ORPHA:79350
Mitochondrial Trifunctional Protein Deficiency 2
Seizure, Bilateral tonic-clonic seizure OMIM:620300
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Communicating hydrocephalus, Low-set, posteriorly rotated ears, Bilateral tonic-clonic seizure, G... ORPHA:457359
Oliver Syndrome
Small earlobe, Bilateral tonic-clonic seizure, Absent earlobe ORPHA:2920
Isotretinoin-Like Syndrome
Patent ductus arteriosus, Hydrocephalus, Aplasia/Hypoplasia of the inner ear, Anotia, Microtia, B... ORPHA:2306
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo... OMIM:614231
Nivelon-Nivelon-Mabille Syndrome
Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:600092
Microcephaly 29, Primary, Autosomal Recessive
Seizure, Hyperactivity, Ataxia, Simplified gyral pattern OMIM:620047
Distal Renal Tubular Acidosis
Polydipsia, Enlarged vestibular aqueduct, Sensorineural hearing impairment ORPHA:18
Hypotonia, Ataxia, And Delayed Development Syndrome
Pain insensitivity, Posteriorly rotated ears, Ataxia, Overfolded helix, Dysmetria, Gait ataxia, T... OMIM:617330
W Syndrome
Bilateral tonic-clonic seizure ORPHA:2804
Monosomy 22Q13.3
Hyperactivity, Impaired pain sensation, Hair-pulling, Seizure, Bruxism, Macrotia, Agenesis of cor... ORPHA:48652
Gaucher Disease
Bilateral tonic-clonic seizure, Ataxia, Hydrocephalus, Dysphagia, Generalized myoclonic seizure, ... ORPHA:355
Van Esch-O'Driscoll Syndrome
Impulsivity, Protruding ear, Seizure, Microtia, Attention deficit hyperactivity disorder, Spina b... OMIM:301030
Isolated Permanent Neonatal Diabetes Mellitus
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Ataxia, Hearing impairment ORPHA:99885
Chromosome Xp11.3 Deletion Syndrome
Bilateral tonic-clonic seizure OMIM:300578
Combined Oxidative Phosphorylation Deficiency 3
Seizure, Patent ductus arteriosus, Bilateral tonic-clonic seizure, Ataxia OMIM:610505
Bone Marrow Failure Syndrome 5
Bilateral tonic-clonic seizure OMIM:618165
Lujo Hemorrhagic Fever
Seizure, Bilateral tonic-clonic seizure, Dysphagia ORPHA:319213
Combined Oxidative Phosphorylation Defect Type 29
Bilateral tonic-clonic seizure, Myoclonic spasms ORPHA:478029
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Bilateral tonic-clonic seizure ORPHA:436159
Cocaine Intoxication
Bilateral tonic-clonic seizure, Focal-onset seizure, Atypical absence status epilepticus, Seizure... ORPHA:90068
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Bilateral tonic-clonic seizure, Patent ductus arteriosus, Sensorineural hearing impairment, Gener... OMIM:612474
Mucopolysaccharidosis Type 2
Communicating hydrocephalus, Otosclerosis, Hyperactivity, Impulsivity, Aggressive behavior, Senso... ORPHA:580
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure ORPHA:3044
Ogden Syndrome
Generalized-onset seizure, Bilateral tonic-clonic seizure, Patent ductus arteriosus, Protruding e... OMIM:300855
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Generalized-onset seizure, Atonic seizure, Truncal ataxia, Bilateral tonic-clonic seizure OMIM:620066
Molybdenum Cofactor Deficiency, Complementation Group B
Seizure, Bilateral tonic-clonic seizure, Myoclonic spasms OMIM:252160
Mitochondrial Complex I Deficiency, Nuclear Type 1
Sensorineural hearing impairment, Bilateral tonic-clonic seizure, Ataxia OMIM:252010
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Seizure, Bilateral tonic-clonic seizure, Myoclonus, Ataxia OMIM:618426
Cardiospondylocarpofacial Syndrome
Posteriorly rotated ears, Congenital sensorineural hearing impairment, Fusion of middle ear ossic... OMIM:157800
Webb-Dattani Syndrome
Bilateral tonic-clonic seizure OMIM:615926
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Bilateral tonic-clonic seizure ORPHA:79124
Schinzel-Giedion Syndrome
Epileptic spasm, Abnormality of the stapes, Neural tube defect, Seizure, Abnormal cochlea morphol... ORPHA:798
Kabuki Syndrome 1
Posteriorly rotated ears, Bilateral tonic-clonic seizure with focal onset, Hydrocephalus, Protrud... OMIM:147920
Doors Syndrome
Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Myoclonus, Low-set ears, Atresi... ORPHA:79500
Nmda Receptor Encephalitis
Generalized-onset seizure, Hypersexuality, Focal-onset seizure, Chorea, Choreoathetosis, Seizure,... ORPHA:217253
Norrie Disease
Sensorineural hearing impairment, Protruding ear, Self-injurious behavior, Seizure, Abnormal coch... ORPHA:649
Sotos Syndrome
Bilateral tonic-clonic seizure, Aggressive behavior, Conductive hearing impairment, Patent ductus... ORPHA:821
Orofaciodigital Syndrome Type 2
Conductive hearing impairment, Bilateral tonic-clonic seizure, Protruding ear ORPHA:2751
Combined Oxidative Phosphorylation Deficiency 15
Seizure, Ataxia, Bilateral tonic-clonic seizure with focal onset OMIM:614947
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Epileptic spasm, Patent ductus arteriosus, Seizure, Myoclonus, Dysphagia, Bilateral tonic-clonic ... ORPHA:438213
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Bilateral tonic-clonic seizure, Myoclonic spasms ORPHA:73224
Chondrosarcoma, Extraskeletal Myxoid
OMIM:612237

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Nr4a3

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Nr4a3.

No publications found that use IMPC mice or data for Nr4a3.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Nr4a3tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Nr4a3tm371889(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter