banner
Genes Phenotypes Help, News, Blog

Gene: Iqsec2 MGI:3528396

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:
IQ motif and Sec7 domain 2
Synonyms:
N/A

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 Iqsec2 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 Iqsec2 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Intellectual Developmental Disorder, X-Linked 1
Seizure, Bilateral tonic-clonic seizure, Atonic seizure, Aggressive behavior OMIM:309530
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Self-injurious behavior, Seizure, Impaired social interactions, Stereotypical hand wringing ORPHA:397933
Microduplication Xp11.22P11.23 Syndrome
Seizure ORPHA:217377
Smith-Magenis Syndrome
Microcephaly, Aplasia/Hypoplasia of the corpus callosum, Seizure, Self-injurious behavior, Gait d... ORPHA:819

The table below shows human diseases predicted to be associated to Iqsec2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Intellectual Developmental Disorder, X-Linked 96
Seizure OMIM:300802
Intellectual Developmental Disorder, Autosomal Dominant 3
Seizure OMIM:612580
Glycosylphosphatidylinositol Biosynthesis Defect 16
Seizure OMIM:617816
15q13.3 microdeletion syndrome
Seizure DECIPHER:74
Epilepsy, Nocturnal Frontal Lobe, 3
Seizure OMIM:605375
Kifafa Seizure Disorder
Seizure OMIM:245180
Intellectual Developmental Disorder, X-Linked 88
Seizure OMIM:300852
Intellectual Developmental Disorder, Autosomal Recessive 10
Seizure OMIM:611096
Intellectual Developmental Disorder, Autosomal Dominant 10
Seizure OMIM:614256
Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7
Attention deficit hyperactivity disorder, Depression OMIM:613003
Familial Alzheimer-Like Prion Disease
Deficit in phonologic short-term memory, Depression, Cognitive impairment, Attention deficit hype... ORPHA:280397
Severe Primary Trimethylaminuria
Aggressive behavior, Negative affectivity, Depression, Emotional lability, Obsessive-compulsive t... ORPHA:468726
Autism, Susceptibility To, 20
Attention deficit hyperactivity disorder, Compulsive behaviors, Impaired social interactions OMIM:618830
Behavioral Variant Of Frontotemporal Dementia
Restrictive behavior, Collectionism, Restlessness, Bilateral tonic-clonic seizure, Aggressive beh... ORPHA:275864
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Epilepsy, Nocturnal Frontal Lobe, 1
Focal-onset seizure, Seizure OMIM:600513
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Short attention span, Mild malformation of cortical development, Dysplastic corpus callosum, Seiz... ORPHA:500166
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Restlessness, Aggressive behavior, Astrocytosis, Inappropriate behavior, Disinhibition, Gait dist... OMIM:600795
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Short attention span, Hyperactivity DECIPHER:19
Chromosome 15Q11-Q13 Duplication Syndrome
Restrictive behavior, Bilateral tonic-clonic seizure, Unsteady gait, Impaired ability to form pee... OMIM:608636
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity, Bilateral tonic-clonic seizure, Impulsivity, Abnormal eating behavior, Aggressive ... ORPHA:101039
Stxbp1-Related Encephalopathy
Epileptic spasm, Hyperactivity, Ataxia, Bilateral tonic-clonic seizure with focal onset, Infantil... ORPHA:599373
Developmental And Epileptic Encephalopathy 104
Hyperactivity, Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Se... OMIM:619970
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Seizure, Hyperactivity, Abnormal social behavior ORPHA:436151
Glycosylphosphatidylinositol Biosynthesis Defect 17
Aggressive behavior, Dysplastic corpus callosum, Seizure, Primary microcephaly, Overfriendliness OMIM:618010
Intellectual Developmental Disorder, Autosomal Recessive 66
Gait ataxia, Aggressive behavior, Attention deficit hyperactivity disorder, Shyness OMIM:618221
Epilepsy, Nocturnal Frontal Lobe, 2
Depression, Status epilepticus, Bilateral tonic-clonic seizure, Aggressive behavior OMIM:603204
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay
Short stature, Bilateral tonic-clonic seizure, Aggressive behavior, Inability to walk, Attention ... OMIM:619639
Developmental And Epileptic Encephalopathy 15
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Inability to walk, Myoclonic seiz... OMIM:615006
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities
Bilateral tonic-clonic seizure, Ataxia, Reduced cerebral white matter volume, Inability to walk, ... OMIM:620317
Epilepsy, Familial Temporal Lobe, 1
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal autonomic ... OMIM:600512
Chudley-Mccullough Syndrome
Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Hydrocephalus, Seizure, Hypo... OMIM:604213
Developmental And Epileptic Encephalopathy 60
Epileptic spasm, Tonic seizure, Inability to walk, Myoclonic seizure, Seizure, Focal impaired awa... OMIM:617929
Developmental And Epileptic Encephalopathy 9
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure, Aggressive... OMIM:300088
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Ataxia, Bilateral tonic-clonic seizure, Impulsivity, Infantile spasms, Myoclonic s... OMIM:617113
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
Bilateral tonic-clonic seizure, Aggressive behavior, Status epilepticus, Agitation, Emotional lab... OMIM:617171
Microcephaly 5, Primary, Autosomal Recessive
Microcephaly, Cortical dysplasia, Simplified gyral pattern, Seizure, Small cerebral cortex, Atten... OMIM:608716
Focal Cortical Dysplasia, Type Ii
Focal impaired awareness seizure, Astrocytosis OMIM:607341
Macrocephaly, Acquired, With Impaired Intellectual Development
Probst bundles, Impulsivity, Aggressive behavior, Seizure, Attention deficit hyperactivity disord... OMIM:618286
Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies
Absent septum pellucidum, Aggressive behavior, Microcephaly, Inability to walk, Simplified gyral ... OMIM:618492
Familial Infantile Bilateral Striatal Necrosis
Ataxia, Gait ataxia, Choreoathetosis, Astrocytosis, Gait disturbance, Myoclonus, Dysphagia, Loss ... ORPHA:225154
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Short stature, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, F... OMIM:245570
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Impulsivity, Seizure, Periventricular white matter hyperintensities, Attention def... OMIM:301008
Polymicrogyria Due To Tubb2B Mutation
Schizencephaly, Microcephaly, Focal-onset seizure, Cortical dysplasia, Dysgenesis of the basal ga... ORPHA:300573
Bilateral Generalized Polymicrogyria
Generalized-onset seizure, Oral-pharyngeal dysphagia, Diffuse white matter abnormalities, Abnorma... ORPHA:208447
Landau-Kleffner Syndrome
Gait ataxia, Steppage gait, Non-convulsive status epilepticus without coma, Hyperactivity, Bilate... ORPHA:98818
Developmental And Epileptic Encephalopathy 31A
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Inability to walk, Atypical absen... OMIM:616346
Childhood Disintegrative Disorder
Social and occupational deterioration, Dementia, Abnormal emotion, Progressive language deteriora... ORPHA:168782
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Bilateral tonic-clonic seizure, Aggressive behavior, Abnormal fear-induced behavior, Seizure, Pse... ORPHA:208441
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
Succinic Semialdehyde Dehydrogenase Deficiency
Generalized myoclonic seizure, Status epilepticus, Ataxia, Bilateral tonic-clonic seizure ORPHA:22
Lissencephaly, X-Linked, 1
Ataxia, Postnatal growth retardation, Seizure, Gray matter heterotopia, Lissencephaly, Pachygyria... OMIM:300067
Epilepsy, Progressive Myoclonic, 12
Ataxia, Bilateral tonic-clonic seizure, Dysmetria, Depression, Myoclonus, Difficulty walking, Att... OMIM:619191
Lissencephaly 10
Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo... OMIM:618873
Lennox-Gastaut Syndrome
Hyperactivity, Bilateral tonic-clonic seizure, Aggressive behavior, Focal-onset seizure, Falls, M... ORPHA:2382
Foxg1 Syndrome
Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Inability to walk, Bruxism... ORPHA:561854
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)
Ataxia, Bilateral tonic-clonic seizure, Myoclonic seizure, Depression, Seizure, Myoclonus OMIM:162350
Autosomal Dominant Epilepsy With Auditory Features
Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo... ORPHA:101046
Epilepsy, Idiopathic Generalized, Susceptibility To, 14
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Generalized myo... OMIM:616685
Intellectual Developmental Disorder, Autosomal Recessive 34, With Variant Lissencephaly
Seizure, Pachygyria, Bilateral tonic-clonic seizure, Lissencephaly OMIM:614499
Hsd10 Disease
Short attention span, Ataxia, Microcephaly, Choreoathetosis, Seizure, Frontotemporal cerebral atr... ORPHA:391417
Developmental And Epileptic Encephalopathy 98
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Clonic seizure, ... OMIM:619605
Glycine Encephalopathy 1
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Seizure, Irritability, Myoclonus, ... OMIM:605899
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Bilateral tonic-clonic seizure, Aggressive behavior, Generalized non-motor (absence) seizure, Eye... OMIM:618357
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant
Restlessness, Irritability, Bilateral tonic-clonic seizure, Focal impaired awareness seizure OMIM:610003
Developmental And Epileptic Encephalopathy 26
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Infantile spasms... OMIM:616056
Neurodevelopmental Disorder With Microcephaly, Ataxia, And Seizures
Ataxia, Bilateral tonic-clonic seizure, Aggressive behavior OMIM:617709
Intellectual Developmental Disorder, Autosomal Dominant 69
Bilateral tonic-clonic seizure, Attention deficit hyperactivity disorder OMIM:617863
Developmental And Epileptic Encephalopathy 99
Epileptic spasm, Multifocal seizures, Bilateral tonic-clonic seizure, Hypoplastic hippocampus, To... OMIM:619606
Developmental And Epileptic Encephalopathy 59
Ataxia, Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Inability to walk, Self-... OMIM:617904
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Hyperactivity, Generalized-onset seizure, Bilateral tonic-clonic seizure, Impulsivity, Aggressive... OMIM:604317
Early-Onset Autosomal Dominant Alzheimer Disease
Ataxia, Confusion, Neurofibrillary tangles, Seizure, Dementia, Agitation, Myoclonus, Semantic dem... ORPHA:1020
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Hypoplastic hippocampus, Partial agenesis of the corpus callosum, Cerebral atrophy, Seizure, Agen... ORPHA:85179
Developmental And Epileptic Encephalopathy 33
Epileptic spasm, Bilateral tonic-clonic seizure, Aggressive behavior, Typical absence seizure, Un... OMIM:616409
Developmental And Epileptic Encephalopathy 24
Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, Clonic seizure, Generalized non-moto... OMIM:615871
Dravet Syndrome
Photosensitive tonic-clonic seizure, Progressive gait ataxia, Status epilepticus without prominen... ORPHA:33069
Lissencephaly 3
Agyria, Ataxia, Bilateral tonic-clonic seizure, Periventricular laminar heterotopia, Seizure, Gra... OMIM:611603
Inherited Creutzfeldt-Jakob Disease
Astrocytosis, Gait ataxia, Progressive cerebellar ataxia, Seizure, Depression, Irritability, Myoc... ORPHA:282166
Sporadic Creutzfeldt-Jakob Disease
Gliosis, Ataxia, Myoclonus, Astrocytosis ORPHA:204
Epilepsy, Familial Adult Myoclonic, 5
Bilateral tonic-clonic seizure, Hippocampal sclerosis, Focal sensory seizure with visual features... OMIM:615400
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type)
Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, Depression, Myoclonus, Status epilep... OMIM:204300
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Generalized-onset seizure, Ataxia, Bilateral tonic-clonic seizure with focal onset... OMIM:610042
Epilepsy, Familial Temporal Lobe, 5
Visually-induced seizure, Bilateral tonic-clonic seizure, Focal aware seizure, Focal impaired awa... OMIM:614417
Dravet Syndrome
Ataxia, Bilateral tonic-clonic seizure, Generalized clonic seizure, Focal hemiclonic seizure, Vis... OMIM:607208
Cortical Malformations, Occipital
Pachygyria, Focal impaired awareness automatism seizure, Bilateral tonic-clonic seizure, Polymicr... OMIM:614115
Band Heterotopia
Hypoplastic hippocampus, Hydrocephalus, Subcortical band heterotopia, Seizure, Lateral ventricle ... OMIM:600348
Myoclonic Epilepsy Of Infancy
Bilateral tonic-clonic seizure, Photosensitive tonic-clonic seizure, Aggressive behavior, General... ORPHA:86909
Continuous Spikes And Waves During Sleep
Bilateral tonic-clonic seizure, Aggressive behavior, Focal hemiclonic seizure, Focal-onset seizur... ORPHA:725
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
Lissencephaly Due To Tuba1A Mutation
Agyria, Bilateral tonic-clonic seizure, Hypoplastic hippocampus, Infantile spasms, Microcephaly, ... ORPHA:171680
Developmental And Epileptic Encephalopathy 109
Hyperactivity, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Typical a... OMIM:620145
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Inability to walk, Seizure, Difficulty walking, Astrocytosis OMIM:611087
Polymicrogyria With Optic Nerve Hypoplasia
Bilateral tonic-clonic seizure, Infantile spasms, Dysplastic corpus callosum, Seizure, Colpocepha... ORPHA:250972
Myoclonic Epilepsy, Familial Infantile
Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, Limb ataxia, Impaired tandem gait, G... OMIM:605021
Guanidinoacetate Methyltransferase Deficiency
Hyperactivity, Ataxia, Bilateral tonic-clonic seizure, Aggressive behavior, Athetosis, Self-injur... ORPHA:382
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy
Broad-based gait, Bilateral tonic-clonic seizure, Aggressive behavior, Focal-onset seizure, Gener... OMIM:619157
Posttransplant Acute Limbic Encephalitis
Ataxia, Confusion, Abnormal hippocampus morphology, Depression, Seizure, Myoclonus, Cognitive imp... ORPHA:163921
Epilepsy, Progressive Myoclonic, 9
Bilateral tonic-clonic seizure, Simplified gyral pattern, Gait ataxia, Status epilepticus, Myoclo... OMIM:616540
Spastic Paraplegia 45, Autosomal Recessive
Dysplastic corpus callosum, Spastic gait, Hypoplasia of the corpus callosum OMIM:613162
Polymicrogyria, Bilateral Perisylvian, X-Linked
Pseudobulbar paralysis, Polymicrogyria, Bilateral tonic-clonic seizure, Atypical absence seizure OMIM:300388
Hereditary Geniospasm
Abnormal social behavior, Chin myoclonus ORPHA:53372
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Broad-based gait, Short stature, Bilateral tonic-clonic seizure, Gait ataxia, Dysphagia, Recurren... OMIM:617862
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Restlessness, Hypoplastic hippocampus, Reduced amygdala volume, Tonic seizure, Microcephaly, Foca... OMIM:619517
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, Gait ataxia, Depression, Seizure, My... OMIM:615362
Developmental And Epileptic Encephalopathy 74
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Typical absence seizure, Myoclon... OMIM:618396
11Q22.2Q22.3 Microdeletion Syndrome
Short attention span, Seizure, Compulsive behaviors, Attention deficit hyperactivity disorder, Hy... ORPHA:444002
Developmental And Epileptic Encephalopathy 13
Epileptic spasm, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset,... OMIM:614558
Developmental And Epileptic Encephalopathy 6B
Epileptic spasm, Hypoplastic hippocampus, Bilateral tonic-clonic seizure, Ataxia, Tonic seizure, ... OMIM:619317
Intellectual Developmental Disorder, Autosomal Recessive 54
Emotional lability, Attention deficit hyperactivity disorder OMIM:617028
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Ataxia, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoclonic seizur... OMIM:617831
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Broad-based gait, Short stature, Anorexia, Aggressive behavior, Abnormal fear-indu... ORPHA:3077
Developmental And Epileptic Encephalopathy 30
Generalized myoclonic seizure, Seizure, Abnormal repetitive mannerisms, Bilateral tonic-clonic se... OMIM:616341
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Hyperactivity, Bilateral tonic-clonic seizure, Tonic seizure, Inability to walk, Dysmetria, Gait ... OMIM:618090
Epilepsy, Progressive Myoclonic 7
Myoclonic seizure, Ataxia, Myoclonus, Bilateral tonic-clonic seizure OMIM:616187
Developmental And Epileptic Encephalopathy 67
Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Generalized non-motor (a... OMIM:618141
Episodic Ataxia, Type 9
Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Seizure, Status epilepticus, Episo... OMIM:618924
Epilepsy, Progressive Myoclonic, 8
Bilateral tonic-clonic seizure, Limb ataxia, Choreoathetosis, Gait disturbance, Falls, Myoclonus,... OMIM:616230
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
Bilateral tonic-clonic seizure, Typical absence seizure, Morning myoclonic jerks, Generalized non... OMIM:607682
Intellectual Developmental Disorder, X-Linked 1
Seizure, Bilateral tonic-clonic seizure, Atonic seizure, Aggressive behavior OMIM:309530
Benign Familial Infantile Epilepsy
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Simple febrile s... ORPHA:306
Epilepsy, Familial Focal, With Variable Foci 4
Bilateral tonic-clonic seizure, Simple febrile seizure, Focal-onset seizure, Clonic seizure, Foca... OMIM:617935
Perioral Myoclonia With Absences
Bilateral tonic-clonic seizure, Focal seizure with eyelid myoclonia, Generalized non-motor (absen... ORPHA:139426
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Inability to walk, Dysplastic corpus callosum, Ataxia, Microcephaly OMIM:618276
Spinocerebellar Ataxia, Autosomal Recessive 12
Ataxia, Bilateral tonic-clonic seizure, Limb ataxia, Gait ataxia, Growth delay OMIM:614322
Epilepsy, Progressive Myoclonic, 6
Ataxia, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoclonic status... OMIM:614018
Pandas
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... ORPHA:66624
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Self-injurious behavior, Seizure, Impaired social interactions, Stereotypical hand wringing ORPHA:397933
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Abnormality of the anterior commissure, Hydrocephalus, Unsteady gait, Absent hippocampal commissu... OMIM:617542
Combined Oxidative Phosphorylation Defect Type 27
Diffuse cerebral atrophy, Multifocal seizures, Hypoplastic hippocampus, Abnormal cerebral white m... ORPHA:477774
Developmental And Epileptic Encephalopathy 94
Bilateral tonic-clonic seizure, Tonic seizure, Visually-induced seizure, Generalized non-motor (a... OMIM:615369
Developmental And Epileptic Encephalopathy 12
Focal-onset seizure, Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure OMIM:613722
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Absence seizure with eyelid myoclonia, Bilateral tonic-clonic seizure, Generalized myoclonic-aton... OMIM:618587
Developmental And Epileptic Encephalopathy 54
Bilateral tonic-clonic seizure, Tonic seizure, Seizure, Myoclonus, Atypical absence seizure, Aton... OMIM:617391
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Inability to walk, Myoclonic seiz... OMIM:618497
Seizures, Benign Familial Neonatal, 2
Focal clonic seizure, Bilateral tonic-clonic seizure OMIM:121201
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Bilateral tonic-clonic seizure, Inability to walk, Focal-onset seizure, Seizure, Status epileptic... ORPHA:330050
Epilepsy, Familial Adult Myoclonic, 3
Focal-onset seizure, Bilateral tonic-clonic seizure, Myoclonus, Difficulty walking OMIM:613608
Generalized Epilepsy With Febrile Seizures-Plus
Generalized-onset seizure, Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, Generaliz... ORPHA:36387
Generalized Epilepsy With Febrile Seizures Plus, Type 2
Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Focal-onset seizure, Generalized non-mo... OMIM:604403
Seizures, Benign Familial Infantile, 2
Bilateral tonic-clonic seizure, Focal impaired awareness seizure OMIM:605751
Succinic Semialdehyde Dehydrogenase Deficiency
Hyperactivity, Ataxia, Bilateral tonic-clonic seizure, Aggressive behavior, Generalized non-motor... OMIM:271980
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Bilateral tonic-clonic seizure, Tonic seizure, Inability to walk, Clonic seizure, Focal-onset sei... OMIM:618917
Developmental And Epileptic Encephalopathy 91
Epileptic spasm, Short stature, Bilateral tonic-clonic seizure, Tonic seizure, Unsteady gait, Foc... OMIM:617711
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Bilateral tonic-clonic seizure, Inflexible adherence to routines OMIM:301076
Childhood Absence Epilepsy
Bilateral tonic-clonic seizure, Typical absence seizure, Depression, Punding, Attention deficit h... ORPHA:64280
Familial Focal Epilepsy With Variable Foci
Bilateral tonic-clonic seizure, Infantile spasms, Simple febrile seizure, Focal-onset seizure, Fo... ORPHA:98820
Episodic Ataxia, Type 5
Ataxia, Bilateral tonic-clonic seizure, Typical absence seizure, Myoclonus, Atypical absence seiz... 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
Epilepsy, Myoclonic Juvenile
Morning myoclonic jerks, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure,... OMIM:254770
Intellectual Developmental Disorder, Autosomal Dominant 65
Ataxia, Infantile spasms, Aggressive behavior, Dysgenesis of the hippocampus, Noncommunicating hy... OMIM:619320
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 52
Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Limb ataxia, Seizure, Atypical absence ... OMIM:617350
Progressive Supranuclear Palsy
Impulsivity, Unsteady gait, Depression, Abnormal synaptic transmission, Dementia, Falls, Cognitiv... ORPHA:683
Clcn4-Related X-Linked Intellectual Disability Syndrome
Hyperactivity, Bilateral tonic-clonic seizure, Infantile spasms, Aggressive behavior, Unsteady ga... ORPHA:485350
Familial Infantile Myoclonic Epilepsy
Thick cerebral cortex, Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clo... ORPHA:352582
Pachygyria With Impaired Intellectual Development, Seizures, And Arachnoid Cysts
Pachygyria, Bilateral tonic-clonic seizure, Atypical absence seizure OMIM:600176
Epilepsy, Idiopathic Generalized, Susceptibility To, 7
Bilateral tonic-clonic seizure, Myoclonus OMIM:604827
Mucolipidosis Iv
Dysplastic corpus callosum, Cerebral dysmyelination, Progressive neurologic deterioration, Microc... OMIM:252650
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Partial agenesis of the corpus callosum, Delayed early-childhood social milestone development, Si... ORPHA:300570
Pontocerebellar Hypoplasia Type 2
Bilateral tonic-clonic seizure with generalized onset, Abnormal cortical gyration, Infantile spas... ORPHA:2524
Developmental And Epileptic Encephalopathy 42
Ataxia, Bilateral tonic-clonic seizure, Tonic seizure, Focal tonic seizure, Myoclonic seizure, At... OMIM:617106
Lamb-Shaffer Syndrome
Hyperactivity, Ataxia, Mild postnatal growth retardation, Seizure, Abnormal temper tantrums, Abno... ORPHA:530983
Brain Small Vessel Disease 2
Subcortical heterotopia, Bilateral tonic-clonic seizure, Focal-onset seizure, Growth delay, Polym... OMIM:614483
Gm2 Gangliosidosis, Ab Variant
Short stature, Postnatal growth retardation, Abnormal fear-induced behavior, Seizure, Inappropria... ORPHA:309246
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
Combined Oxidative Phosphorylation Deficiency 54
Generalized-onset seizure, Dysplastic corpus callosum, Seizure, Secondary microcephaly, Periventr... OMIM:619737
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome
Abnormality of the anterior commissure, Infantile spasms, Abnormal hippocampus morphology, Myoclo... ORPHA:572013
Myoclonic Epilepsy Of Unverricht And Lundborg
Myoclonus, Ataxia, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure OMIM:254800
Generalized Epilepsy With Febrile Seizures Plus, Type 7
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Feb... OMIM:613863
Spinocerebellar Ataxia 48
Bilateral tonic-clonic seizure, Ataxia, Dysmetria, Gait ataxia, Depression, Irritability, Dysphagia OMIM:618093
Epilepsy, Idiopathic Generalized
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) se... OMIM:600669
Progressive Myoclonic Epilepsy Type 3
Progressive truncal ataxia, Bilateral tonic-clonic seizure, Progressive cerebellar ataxia, Chin m... ORPHA:263516
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Epileptic spasm, Short stature, Bilateral tonic-clonic seizure, Focal-onset seizure, Myoclonus, F... ORPHA:289266
Lissencephaly 9 With Complex Brainstem Malformation
Bilateral tonic-clonic seizure, Infantile spasms, Microcephaly, Dysgenesis of the hippocampus, Hy... OMIM:618325
Intellectual Developmental Disorder, X-Linked 30
Restlessness, Hyperactivity, Short stature, Bilateral tonic-clonic seizure, Aggressive behavior, ... OMIM:300558
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Focal-onset seizure, Inability to walk, Generalized non-motor (absence) seizure, Astrocytosis, Se... ORPHA:258
Developmental And Epileptic Encephalopathy 47
Ataxia, Bilateral tonic-clonic seizure, Tonic seizure, Inability to walk, Focal-onset seizure, Li... OMIM:617166
Juvenile Absence Epilepsy
Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizur... ORPHA:1941
Cerebral Creatine Deficiency Syndrome 2
Ataxia, Bilateral tonic-clonic seizure, Aggressive behavior, Seizure, Myoclonus, Febrile seizure ... OMIM:612736
Epilepsy, Idiopathic Generalized, Susceptibility To, 10
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Gen... OMIM:613060
Developmental Delay And Seizures With Or Without Movement Abnormalities
Ataxia, Short stature, Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Myoclonic a... OMIM:617836
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Multifocal hyperintensity of cerebral white matter on MRI, Bilateral tonic-clonic seizure with fo... ORPHA:488627
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
Developmental And Epileptic Encephalopathy 103
Hyperactivity, Epileptic spasm, Ataxia, Bilateral tonic-clonic seizure, Tonic seizure, Tonic stat... OMIM:619913
Late Infantile Neuronal Ceroid Lipofuscinosis
Hyperactivity, Ataxia, Bilateral tonic-clonic seizure, Atonic seizure, Aggressive behavior, Inabi... ORPHA:168491
Familial Congenital Mirror Movements
Agenesis of corpus callosum, Abnormal corticospinal tract morphology, Dysgenesis of the hippocampus ORPHA:238722
Benign Familial Neonatal-Infantile Seizures
Bilateral tonic-clonic seizure, Tonic seizure, Focal clonic seizure, Episodic ataxia, Neonatal se... ORPHA:140927
Developmental And Epileptic Encephalopathy 106
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Postnatal growth retardation, Fo... OMIM:620028
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Epileptic spasm, Ataxia, Bilateral tonic-clonic seizure, Impulsivity, Aggressive behavior, Tonic ... OMIM:619580
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Short stature, Bilateral tonic-clonic seizure, Depression, Seizure, Gait disturbance, Gliosis, Ab... ORPHA:457240
Developmental And Epileptic Encephalopathy 93
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Inability to walk, Clonic seizur... OMIM:618012
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Short attention span, Hyperactivity, Shyness, Aggressive behavior, Depression, Seizure, Self-inju... ORPHA:449291
Optic Atrophy-Intellectual Disability Syndrome
Repetitive compulsive behavior, Abnormal hippocampus morphology, Seizure, Compulsive behaviors, H... ORPHA:401777
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
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoclonic... OMIM:617600
Progressive Non-Fluent Aphasia
Restlessness, Depression, Astrocytosis ORPHA:100070
Developmental And Epileptic Encephalopathy 102
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Tonic seizure, F... OMIM:619881
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Microcephaly, Focal polymicrogyria, Dysplastic corpus callosum, Partial agenesis of the corpus ca... OMIM:619103
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Severe temper tantrums, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, ... OMIM:619854
Developmental And Epileptic Encephalopathy 49
Hyperactivity, Cerebral calcification, Bilateral tonic-clonic seizure, Tonic seizure, Microcephal... OMIM:617281
Seizures, Benign Familial Neonatal, 1
Febrile seizure (within the age range of 3 months to 6 years), Focal clonic seizure, Bilateral to... OMIM:121200
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Microcephaly, Dysplastic corpus callosum, Seizure, Lissencephaly, Polymicrogyria, Agenesis of cor... OMIM:614833
Spastic Ataxia 5, Autosomal Recessive
Spastic ataxia, Ataxia, Bilateral tonic-clonic seizure, Dysmetria, Dysdiadochokinesis, Myoclonus,... OMIM:614487
Febrile Seizures, Familial, 11
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo... OMIM:614418
Chromosome 22Q13 Duplication Syndrome
Bilateral tonic-clonic seizure, Impulsivity, Status epilepticus, Attention deficit hyperactivity ... OMIM:615538
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Epilepsia partialis continua, Ataxia, Astrocytosis, Status epilepticus, Myoclonus, Gliosis, Gener... OMIM:203700
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities
Bilateral tonic-clonic seizure, Impaired social interactions, Aggressive behavior OMIM:616083
Dworschak-Punetha Neurodevelopmental Syndrome
Microcephaly, Dysplastic corpus callosum, Seizure, Colpocephaly, Agenesis of corpus callosum OMIM:619955
Metachromatic Leukodystrophy, Adult Form
Short attention span, Progressive psychomotor deterioration, Depression, Emotional lability, Seiz... ORPHA:309271
Choreoacanthocytosis
Caudate atrophy, Compulsive behaviors, Loss of ambulation, Small basal ganglia, Self-mutilation o... ORPHA:2388
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3
Dysplastic corpus callosum, Cerebral atrophy, Seizure, Hypoplasia of the corpus callosum, Abnorma... OMIM:616900
Metachromatic Leukodystrophy, Juvenile Form
Short attention span, Progressive psychomotor deterioration, Seizure, Progressive gait ataxia, Em... ORPHA:309263
Intellectual Developmental Disorder, X-Linked 98
Hyperactivity, Ataxia, Bilateral tonic-clonic seizure, Atonic seizure, Aggressive behavior, Postn... OMIM:300912
Pontocerebellar Hypoplasia, Type 13
Hypoplastic hippocampus, Microcephaly, Inability to walk, Gait ataxia, Lateral ventricle dilatati... OMIM:618606
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities
Microcephaly, Dysplastic corpus callosum, Simplified gyral pattern, Seizure, Dysphagia OMIM:620001
Autosomal Recessive Cutis Laxa Type 2A
Thick cerebral cortex, Generalized-onset seizure, Ataxia, Inability to walk, Dysplastic corpus ca... ORPHA:357058
Supranuclear Palsy, Progressive, 1
Akinesia, Astrocytosis, Irritability, Gliosis, Falls, Gait imbalance, Dysphagia OMIM:601104
Ritscher-Schinzel Syndrome 4
Bilateral tonic-clonic seizure, Ataxia, Impulsivity, Aggressive behavior, Dysgenesis of the hippo... OMIM:619435
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Ataxia, Bilateral tonic-clonic seizure, Nocturnal seizures, Myoclonus, Attention deficit hyperact... OMIM:619725
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Hypoplastic hippocampus, Ataxia, Abnormal cortical gyration, Aggressive behavior, Unsteady gait, ... ORPHA:314647
Lafora Disease
Ataxia, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Generali... ORPHA:501
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Aggressive behavior, Dysplastic corpus callosum, Periventricular cysts, Thick corpus callosum, Se... ORPHA:544488
Cockayne Syndrome Type 3
Mild postnatal growth retardation, Unsteady gait, Astrocytosis, Seizure, Difficulty walking ORPHA:90324
Microphthalmia, Syndromic 11
Agenesis of corpus callosum, Hippocampal malrotation OMIM:614402
Slc35A2-Cdg
Cerebral white matter atrophy, Hypoplastic hippocampus, Infantile spasms, Microcephaly, Inability... ORPHA:356961
Microcephaly 26, Primary, Autosomal Dominant
Microcephaly, Dysplastic corpus callosum, Simplified gyral pattern, Seizure, Hypoplasia of the co... OMIM:619179
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Focal hyperkinetic seizure, Bilateral tonic-clonic seizure, Depression, Attention deficit hyperac... ORPHA:98784
Joubert Syndrome 23
Dysplastic corpus callosum OMIM:616490
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Astrocytosis, Dysdiadochokinesis, Gait disturbance, Difficulty walking, Truncal ataxia ORPHA:309854
Metachromatic Leukodystrophy, Late Infantile Form
Gait ataxia, Seizure, Progressive gait ataxia, Tip-toe gait, Emotional lability, Abnormal social ... ORPHA:309256
Microcephaly-Capillary Malformation Syndrome
Hypoplastic hippocampus, Infantile spasms, Simplified gyral pattern, Cerebral atrophy, Seizure, M... OMIM:614261
Niemann-Pick Disease Type C
Generalized-onset seizure, Progressive neurologic deterioration, Progressive gait ataxia, Low fru... ORPHA:646
Even-Plus Syndrome
Dysplastic corpus callosum, Agenesis of corpus callosum OMIM:616854
Mitochondrial Complex I Deficiency, Nuclear Type 39
Dysplastic corpus callosum OMIM:620135
Tuberous Sclerosis Complex
Epileptic spasm, Hyperactivity, Infantile spasms, Aggressive behavior, Impulsivity, Focal-onset s... ORPHA:805
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Microcephaly, Dysplastic corpus callosum, Head-banging, Seizure, Status epilepticus, Hypoplasia o... OMIM:618569
Combined Oxidative Phosphorylation Deficiency 53
Seizure, Dysplastic corpus callosum, Secondary microcephaly OMIM:619423
48,Xxxy Syndrome
Seizure, Irritability, Attention deficit hyperactivity disorder, Abnormal social behavior, Abnorm... ORPHA:96263
Fg Syndrome Type 1
Broad-based gait, Hydrocephalus, Aplasia/Hypoplasia of the corpus callosum, Seizure, Compulsive b... ORPHA:93932
Dihydropyrimidine Dehydrogenase Deficiency
Microcephaly, Inability to walk, Focal motor seizure, Cerebral atrophy, Seizure, Irritability, Hy... ORPHA:1675
Combined Oxidative Phosphorylation Deficiency 12
Dysplastic corpus callosum, Leukoencephalopathy, Seizure, Hypoplasia of the corpus callosum, Agen... OMIM:614924
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Dysplastic corpus callosum, Microcephaly OMIM:604273
Prader-Willi Syndrome Due To Translocation
Microcephaly, Head-banging, Seizure, Lateral ventricle dilatation, Compulsive behaviors, Impaired... ORPHA:177907
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Seizure, Dysplastic corpus callosum OMIM:618810
Oculoskeletodental Syndrome
Dysplastic corpus callosum, Focal white matter lesions ORPHA:557003
Myoclonic Epilepsy Of Lafora
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Generalized non-... OMIM:254780
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Seizure, Hypoplastic hippocampus OMIM:617780
Porphyria Due To Ala Dehydratase Deficiency
Restlessness, Abnormal fear-induced behavior, Depression, Agitation, Difficulty walking ORPHA:100924
Cerebrofacioarticular Syndrome
Ataxia, Microcephaly, Dysplastic corpus callosum, Self-injurious behavior, Hypoplasia of the corp... ORPHA:314679
Genitourinary And/Or Brain Malformation Syndrome
Absent septum pellucidum, Dysplastic corpus callosum, Colpocephaly, Secondary microcephaly, Holop... OMIM:618820
Pitt-Hopkins Syndrome
Hypoplastic hippocampus, Microcephaly, Gait ataxia, Seizure, Self-injurious behavior, Secondary m... OMIM:610954
Contractures-Developmental Delay-Pierre Robin Syndrome
Cerebral white matter hypoplasia, Focal-onset seizure, Abnormal hippocampus morphology ORPHA:436003
Kapur-Toriello Syndrome
Dysplastic corpus callosum, Pachygyria, Polymicrogyria ORPHA:2328
Mend Syndrome
Hyperactivity, Aggressive behavior, Hydrocephalus, Seizure, Hypoplasia of the corpus callosum, Ab... ORPHA:401973
Koolen-De Vries Syndrome Due To A Point Mutation
Generalized-onset seizure, Spina bifida, Microcephaly, Focal hemiclonic seizure, Focal-onset seiz... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Generalized-onset seizure, Spina bifida, Microcephaly, Focal hemiclonic seizure, Focal-onset seiz... ORPHA:363958
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Dysplastic corpus callosum ORPHA:363444
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Hyperactivity, Short stature, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, G... ORPHA:353281
White-Kernohan Syndrome
Dysplastic corpus callosum, Attention deficit hyperactivity disorder OMIM:619426
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Ataxia, Aggressive behavior, Shyness, Dysplastic corpus callosum, Seizure, Pseudobulbar paralysis... ORPHA:466791
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Ataxia, Impulsivity, Aggressive behavior, Dysplastic corpus callosum, Thick corpus callosum, Seizure OMIM:300967
Hydranencephaly
Hypoplastic hippocampus, Seizure, Primary microcephaly, Cerebral cortical atrophy, Abnormal corpu... ORPHA:2177
Lenz-Majewski Hyperostotic Dwarfism
Microcephaly, Dysplastic corpus callosum, Spina bifida occulta, Agenesis of corpus callosum, Cere... OMIM:151050
Microduplication Xp11.22P11.23 Syndrome
Seizure ORPHA:217377
Apert Syndrome
Abnormal morphology of the limbic system, Absent septum pellucidum, Megalencephaly, Hydrocephalus... OMIM:101200
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Hyperactivity, Short stature, Impulsivity, Aggressive behavior, Postnatal growth retardation, Abn... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Hyperactivity, Short stature, Impulsivity, Aggressive behavior, Postnatal growth retardation, Abn... ORPHA:353277
Zttk Syndrome
Dysplastic corpus callosum, Seizure, Abnormal cerebral white matter morphology, Status epilepticu... OMIM:617140
Witteveen-Kolk Syndrome
Hyperactivity, Aggressive behavior, Microcephaly, Dysplastic corpus callosum, Cortical dysplasia,... OMIM:613406
Mowat-Wilson Syndrome
Focal cortical dysplasia, Broad-based gait, Ataxia, Microcephaly, Focal-onset seizure, Inability ... ORPHA:2152
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Generalized-onset seizure, Abnormal cerebral cortex morphology, Dysplastic corpus callosum, Simpl... ORPHA:500150
Mowat-Wilson Syndrome
Microcephaly, Aplasia/Hypoplasia of the cerebral white matter, Abnormal hippocampus morphology, L... OMIM:235730
Smith-Magenis Syndrome
Microcephaly, Aplasia/Hypoplasia of the corpus callosum, Seizure, Self-injurious behavior, Gait d... ORPHA:819
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Broad-based gait, Focal hypointensity of cerebral white matter on MRI, Cerebral white matter hypo... ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Broad-based gait, Focal hypointensity of cerebral white matter on MRI, Cerebral white matter hypo... ORPHA:261552
Williams Syndrome
Ataxia, Atrophy/Degeneration involving the corticospinal tracts, Microcephaly, Spina bifida occul... ORPHA:904

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 Iqsec2

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 Iqsec2.

No publications found that use IMPC mice or data for Iqsec2.

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
Iqsec2em1(IMPC)J Exon Deletion Mice
Iqsec2tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Iqsec2tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

The IMPC Newsletter

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

Subscribe to newsletter