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Gene: Sh3rf2 MGI:2444628

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Gene Summary

Name:
SH3 domain containing ring finger 2
Synonyms:
9130023G24Rik,  RNF158

Order Alleles

IMPC Data Collections

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.

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Viewing: all phenotypes

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.

X-ray

XRay Images Whole Body Lateral Orientation

16 Images

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X-ray

XRay Images Whole Body Dorso Ventral

48 Images

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Human diseases caused by Sh3rf2 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Sh3rf2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Autism, Susceptibility To, 8
Restrictive behavior, Impaired ability to form peer relationships, Seizure, EEG abnormality, Abno... OMIM:607373
Autism
Restrictive behavior, Impaired ability to form peer relationships, Seizure, EEG abnormality, Abno... OMIM:209850
Chromosome 15Q11-Q13 Duplication Syndrome
Restrictive behavior, Bilateral tonic-clonic seizure, Unsteady gait, Impaired ability to form pee... OMIM:608636
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Seizure, Hyperactivity, Abnormal social behavior, EEG abnormality ORPHA:436151
Autism, Susceptibility To, X-Linked 3
Restrictive behavior, Seizure, EEG abnormality, Abnormal repetitive mannerisms, Inflexible adhere... OMIM:300496
Autism, Susceptibility To, X-Linked 1
Restrictive behavior, Seizure, EEG abnormality, Abnormal repetitive mannerisms, Inflexible adhere... OMIM:300425
Asperger Syndrome, Susceptibility To, 1
Restrictive behavior, Abnormal repetitive mannerisms, Impaired ability to form peer relationships... OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Restrictive behavior, Abnormal repetitive mannerisms, Impaired ability to form peer relationships... OMIM:608631
Autism, Susceptibility To, 20
Attention deficit hyperactivity disorder, Impaired social interactions, Compulsive behaviors OMIM:618830
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
Bilateral tonic-clonic seizure, Aggressive behavior, EEG abnormality, Agitation, Status epileptic... OMIM:617171
Developmental And Epileptic Encephalopathy 104
Hyperactivity, Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Hy... OMIM:619970
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity, Bilateral tonic-clonic seizure, Impulsivity, Abnormal eating behavior, Aggressive ... ORPHA:101039
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Ataxia, Aggressive behavior, Focal motor status epilepticus, Focal-onset seizure, Seizure, EEG ab... OMIM:619150
Intellectual Developmental Disorder, Autosomal Recessive 64
Seizure, Impaired social interactions, Aggressive behavior OMIM:618103
Intellectual Developmental Disorder, X-Linked 72
Seizure, Hyperactivity, Abnormal repetitive mannerisms, Short stature OMIM:300271
Intellectual Developmental Disorder With Autism And Speech Delay
Inability to walk, Abnormal repetitive mannerisms, Impaired social interactions OMIM:606053
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Seizure, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:617787
Landau-Kleffner Syndrome
Gait ataxia, Steppage gait, Non-convulsive status epilepticus without coma, Hyperactivity, EEG wi... ORPHA:98818
Autism, Susceptibility To, 3
Restrictive behavior, Impaired ability to form peer relationships, Seizure, EEG abnormality, Abno... OMIM:608049
Stxbp1-Related Encephalopathy
Hyperactivity, Epileptic spasm, Ataxia, Bilateral tonic-clonic seizure with focal onset, Infantil... ORPHA:599373
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Ataxia, Bilateral tonic-clonic seizure, Impulsivity, Infantile spasms, Myoclonic s... OMIM:617113
Intellectual Developmental Disorder, Autosomal Recessive 37
Seizure, Hyperactivity, Bruxism, Aggressive behavior OMIM:615493
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Inability to walk, Self-injurious behavior, Seizure, EEG abnormality, Impaired social interaction... OMIM:617820
Intellectual Developmental Disorder, Autosomal Recessive 66
Gait ataxia, Shyness, Attention deficit hyperactivity disorder, Aggressive behavior OMIM:618221
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Seizure, Hyperactivity, Bruxism, Aggressive behavior ORPHA:356996
Hereditary Geniospasm
EEG abnormality, Abnormal social behavior, Chin myoclonus ORPHA:53372
Hyperprolinemia, Type I
Hyperactivity, Ataxia, Aggressive behavior, Seizure, EEG abnormality, Status epilepticus, Abnorma... OMIM:239500
Lennox-Gastaut Syndrome
Hyperactivity, Bilateral tonic-clonic seizure, Aggressive behavior, Focal-onset seizure, EEG abno... ORPHA:2382
Autism, Susceptibility To, X-Linked 2
Restrictive behavior, Seizure, EEG abnormality, Abnormal repetitive mannerisms, Inflexible adhere... OMIM:300495
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity, Short stature DECIPHER:19
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Impulsivity, Continuous spike and waves during slow sleep, Seizure, Attention defi... OMIM:301008
Smith-Magenis syndrome
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation, Short stature DECIPHER:8
Behavioral Variant Of Frontotemporal Dementia
Restrictive behavior, Collectionism, Restlessness, Bilateral tonic-clonic seizure, Aggressive beh... ORPHA:275864
Developmental And Epileptic Encephalopathy 58
Inability to walk, Hypsarrhythmia, Seizure, Status epilepticus, Abnormal repetitive mannerisms OMIM:617830
Hartnup Disorder
Hyperactivity, Short stature, Seizure, Attention deficit hyperactivity disorder, Episodic ataxia,... OMIM:234500
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Generalized-onset seizure, Ataxia, Bilateral tonic-clonic seizure with focal onset... OMIM:610042
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Hyperactivity, Generalized-onset seizure, Inability to walk, Irritability, Seizure OMIM:616657
Cdkl5-Deficiency Disorder
Infantile spasms, Focal-onset seizure, Multifocal epileptiform discharges, Growth delay, Gait dis... ORPHA:505652
Developmental And Epileptic Encephalopathy 30
Bilateral tonic-clonic seizure, Hypsarrhythmia, Seizure, Generalized myoclonic seizure, Abnormal ... OMIM:616341
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, Inability to walk, Self-injurious behavior, Seizure, EEG abnormality, Bruxism, Abn... OMIM:618718
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Short stature, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agita... OMIM:309548
N-Acetylaspartate Deficiency
Broad-based gait, Short stature, Unsteady gait, Seizure, Truncal ataxia, Abnormal repetitive mann... OMIM:614063
Rasmussen Subacute Encephalitis
EEG with focal spikes, Interictal epileptiform activity, Hyperactivity, Bilateral tonic-clonic se... ORPHA:1929
Fraxe Intellectual Disability
Hyperactivity, Short stature, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agita... ORPHA:100973
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity, Short stature OMIM:616311
Developmental And Epileptic Encephalopathy 26
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Infantile spasms... OMIM:616056
Developmental And Epileptic Encephalopathy 67
Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Generalized non-motor (a... OMIM:618141
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Foxg1 Syndrome
Short stature, Bilateral tonic-clonic seizure, Infantile spasms, Inability to walk, Focal-onset s... ORPHA:561854
Schizophrenia 15
Hyperactivity OMIM:613950
Pick Disease Of Brain
Polyphagia, Irritability, Disinhibition, Inappropriate laughter, Emotional blunting, Abnormal rep... OMIM:172700
Developmental And Epileptic Encephalopathy 107
Clonic seizure, Seizure, Abnormal repetitive mannerisms, Tonic seizure OMIM:620033
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
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Seizure, Ataxia, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:618709
Developmental And Epileptic Encephalopathy 6B
Epileptic spasm, Ataxia, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure,... OMIM:619317
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 Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Infantile spasms, Tonic seizure, Focal-onset seizure, Irritability, Seizure, Difficulty walking, ... OMIM:617393
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Hyperactivity, Infantile spasms, Aggressive behavior, Self-injurious behavior, Seizure OMIM:619031
Myoclonic-Astatic Epilepsy
EEG with polyspike wave complexes, Hyperactivity, Epileptic spasm, Ataxia, Bilateral tonic-clonic... ORPHA:1942
Childhood Absence Epilepsy
Bilateral tonic-clonic seizure, Typical absence seizure, Depression, Punding, Attention deficit h... ORPHA:64280
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Self-injurious behavior, Seizure, Impaired social interactions, Stereotypical hand wringing ORPHA:397933
Late Infantile Neuronal Ceroid Lipofuscinosis
Myoclonic seizure, Low frustration tolerance, Abnormal repetitive mannerisms, EEG with generalize... ORPHA:168491
Intellectual Developmental Disorder, Autosomal Recessive 58
Short stature, Aggressive behavior, Pica, Choreoathetosis, Self-injurious behavior, Abnormal repe... OMIM:617270
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Clonic seizure, Self-injurious behavior, Seizure, Intrauterine growth retardation, Abnormal repet... OMIM:615282
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Epileptic spasm, Inability to walk, Myoclonic seizure, Self-injurious behavior, Seizure, EEG abno... OMIM:614254
Glycine Encephalopathy 1
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Irritability, Seizure, Myoclonus OMIM:605899
Atypical Rett Syndrome
Restrictive behavior, Generalized myoclonic seizure, Infantile spasms, Inability to walk, Tongue ... ORPHA:3095
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Inability to walk, Focal-onset seizure, Self-injurious behavior, EEG abnormality, Convulsive stat... OMIM:618760
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Broad-based gait, Short stature, Focal EEG discharges with secondary generalizatio... ORPHA:3077
Hsd10 Disease
Ataxia, Postnatal growth retardation, Choreoathetosis, Seizure, Gait disturbance, Myoclonus, Dysp... ORPHA:391417
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Restlessness, Aggressive behavior, Inappropriate behavior, Disinhibition, Gait disturbance, Myocl... OMIM:600795
Succinic Semialdehyde Dehydrogenase Deficiency
Hyperactivity, Ataxia, Bilateral tonic-clonic seizure, Aggressive behavior, Generalized non-motor... OMIM:271980
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Broad-based gait, Hyperactivity, Ataxia, Seizure, EEG abnormality, Inappropriate laughter, Polyph... ORPHA:411515
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Broad-based gait, Aggressive behavior, Seizure, Abnormal repetitive mannerisms OMIM:619470
Intellectual Developmental Disorder, Autosomal Dominant 7
Hyperactivity, Ataxia, Short stature, Birth length less than 3rd percentile, Seizure, Gait distur... OMIM:614104
Developmental And Epileptic Encephalopathy 109
Hyperactivity, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Typical a... OMIM:620145
Microcephaly, Seizures, And Developmental Delay
Seizure, Hyperactivity, Ataxia OMIM:613402
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders
Seizure, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:620065
Guanidinoacetate Methyltransferase Deficiency
Hyperactivity, Ataxia, Bilateral tonic-clonic seizure, Aggressive behavior, Self-injurious behavi... ORPHA:382
Developmental And Epileptic Encephalopathy 103
EEG with polyspike wave complexes, Hyperactivity, Epileptic spasm, Ataxia, Bilateral tonic-clonic... OMIM:619913
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Focal hyperkinetic seizure, Bilateral tonic-clonic seizure, Increased theta frequency activity in... ORPHA:98784
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Bilateral tonic-clonic seizure, Tonic seizure, Inability to walk, Clonic seizure, Focal-onset sei... OMIM:618917
Cln5 Disease
Hyperactivity, Generalized-onset seizure, Ataxia, EEG with spike-wave complexes, Aggressive behav... ORPHA:228360
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Hyperactivity, Generalized-onset seizure, Bilateral tonic-clonic seizure, Impulsivity, Aggressive... OMIM:604317
Lamb-Shaffer Syndrome
Hyperactivity, Ataxia, Mild postnatal growth retardation, Seizure, Abnormal temper tantrums, Abno... ORPHA:530983
X-Linked Intellectual Disability, Stocco Dos Santos Type
Seizure, Hyperactivity, Short stature ORPHA:85288
Bilateral Generalized Polymicrogyria
Generalized-onset seizure, Short stature, Bilateral tonic-clonic seizure, Atonic seizure, Oral-ph... ORPHA:208447
Childhood Disintegrative Disorder
Seizure, Abnormal repetitive mannerisms, Impaired social interactions, Abnormal emotion ORPHA:168782
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Hyperactivity, Bilateral tonic-clonic seizure, Aggressive behavior, Seizure, Status epilepticus, ... OMIM:620292
Clcn4-Related X-Linked Intellectual Disability Syndrome
Hyperactivity, Bilateral tonic-clonic seizure, Infantile spasms, Aggressive behavior, Unsteady ga... ORPHA:485350
Severe Intellectual Disability And Progressive Spastic Paraplegia
Waddling gait, Short stature, Shyness, Seizure, Difficulty walking, Abnormal repetitive mannerisms ORPHA:280763
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Seizure, Hyperactivity, Short stature, Bruxism OMIM:300434
Intellectual Developmental Disorder, X-Linked 111
Hyperactivity, Aggressive behavior, Unsteady gait, Phonic tics, Seizure, Compulsive behaviors OMIM:301107
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Hyperactivity, Bilateral tonic-clonic seizure, Tonic seizure, Inability to walk, Dysmetria, Gait ... OMIM:618090
2Q23.1 Microdeletion Syndrome
Hyperactivity, Ataxia, Short stature, Abnormal repetitive mannerisms, Growth delay, Self-injuriou... ORPHA:228402
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
EEG with parietal epileptiform discharges, Ataxia, Bilateral tonic-clonic seizure, Infantile spas... OMIM:619428
Intellectual Developmental Disorder, Autosomal Recessive 74
EEG with polyspike wave complexes, Seizure, Hyperactivity OMIM:617169
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Aggressive behavior, Self-injurious behavior, Compulsive behaviors, Attention deficit hyperactivi... OMIM:613670
Intellectual Developmental Disorder, X-Linked 98
Hyperactivity, Ataxia, Bilateral tonic-clonic seizure, Atonic seizure, Aggressive behavior, Postn... OMIM:300912
Hyperlysinemia, Type I
Seizure, Hyperactivity OMIM:238700
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
11Q22.2Q22.3 Microdeletion Syndrome
Seizure, Attention deficit hyperactivity disorder, Abnormal social behavior, Compulsive behaviors ORPHA:444002
Mannosidosis, Beta A, Lysosomal
Seizure, Hyperactivity, Aggressive behavior OMIM:248510
Baker-Gordon Syndrome
Ataxia, Inability to walk, Choreoathetosis, Self-injurious behavior, EEG abnormality, Abnormal re... OMIM:618218
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Infantile spasms, Atonic seizure, Inability to walk, Generalized non-motor (absence) seizure, Mul... ORPHA:411986
Cntnap2-Related Developmental And Epileptic Encephalopathy
Hyperactivity, Ataxia, Bilateral tonic-clonic seizure with focal onset, Aggressive behavior, EEG ... ORPHA:163681
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Hyperactivity, Aggressive behavior, Shyness, Depression, Self-injurious behavior, Irritability, S... ORPHA:449291
Galloway-Mowat Syndrome 6
Short stature, Growth delay, Seizure, Intrauterine growth retardation, Abnormal repetitive manner... OMIM:618347
Phenylketonuria
Hyperactivity, Aggressive behavior, Depression, Irritability, Seizure, Attention deficit hyperact... OMIM:261600
Pontocerebellar Hypoplasia, Type 11
Broad-based gait, Ataxia, Short stature, Inability to walk, Limb ataxia, Self-injurious behavior,... OMIM:617695
Juvenile Huntington Disease
Hyperactivity, Broad-based gait, Ataxia, Gait ataxia, Depression, Irritability, Progressive cereb... ORPHA:248111
Obesity, Hyperphagia, And Developmental Delay
Abnormal repetitive mannerisms, Seizure, Polyphagia, Generalized non-motor (absence) seizure OMIM:613886
Xq25 Microduplication Syndrome
Seizure, Hyperactivity, Short stature ORPHA:521258
Intellectual Developmental Disorder, X-Linked 101
Seizure, Hyperactivity OMIM:300928
Intellectual Developmental Disorder, Autosomal Dominant 67
Hyperactivity, Seizure, Compulsive behaviors, Attention deficit hyperactivity disorder, Motor tics OMIM:619927
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
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Abnormal repetitive mannerisms, Short stature, Aggressive behavior OMIM:615541
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Hyperactivity, Impulsivity, Aggressive behavior, Inability to walk, Gait ataxia, Seizure, EEG abn... ORPHA:500180
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
Hyperactivity, Aggressive behavior, Postnatal growth retardation, Dysphoria, Depression, Seizure,... OMIM:620242
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Abnormal repetitive mannerisms, Emotional lability, Disinhibition, Dysphagia OMIM:612069
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Aggressive behavior, Unsteady gait, Seizure, Febrile seizure (within the age range... OMIM:615516
Chromosome 3Q29 Deletion Syndrome
Gait ataxia, Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior OMIM:609425
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Short stature, Polyphagia, Impaired social interactions, Aggressive behavior ORPHA:329249
Gand Syndrome
Hyperactivity, Tics, Inappropriate laughter OMIM:615074
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Bilateral tonic-clonic seizure, Inflexible adherence to routines OMIM:301076
Angelman Syndrome Due To A Point Mutation
Broad-based gait, Ataxia, Abnormal eating behavior, Tongue thrusting, Seizure, EEG abnormality, I... ORPHA:411511
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Hyperactivity, Ataxia, Aggressive behavior, Choreoathetosis, Growth delay, Seizure OMIM:612716
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Hyperactivity, Broad-based gait, Ataxia, Abnormal eating behavior, EEG with abnormally slow frequ... ORPHA:98794
Developmental And Epileptic Encephalopathy 66
Broad-based gait, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset... OMIM:618067
Brunet-Wagner Neurodevelopmental Syndrome
Self-injurious behavior, Abnormal repetitive mannerisms, Myoclonic seizure OMIM:619690
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoclonic... OMIM:617600
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Hyperactivity, Infantile spasms, Tonic seizure, EEG with burst suppression, Hypsarrhythmia, Seizure OMIM:619239
Encephalopathy, Progressive, With Or Without Lipodystrophy
Seizure, Hyperactivity, Ataxia, Myoclonus OMIM:615924
Christianson Syndrome
Generalized-onset seizure, Dysphagia, Gait ataxia, Inappropriate laughter, Truncal ataxia, Abnorm... ORPHA:85278
Lopes-Maciel-Rodan Syndrome
Unsteady gait, Bruxism, Seizure, Agitation, Focal impaired awareness seizure, Dysphagia, Abnormal... OMIM:617435
Dentici-Novelli Neurodevelopmental Syndrome
Epileptic spasm, Bilateral tonic-clonic seizure, Inability to walk, Myoclonic seizure, Hypsarrhyt... OMIM:619877
Shukla-Vernon Syndrome
Broad-based gait, Impulsivity, Aggressive behavior, Seizure, Attention deficit hyperactivity diso... OMIM:301029
Usmani-Riazuddin Syndrome, Autosomal Dominant
Hyperactivity, Aggressive behavior, Depression, Self-injurious behavior, Seizure, Compulsive beha... OMIM:619467
Intellectual Developmental Disorder, X-Linked 77
Febrile seizure (within the age range of 3 months to 6 years), Hyperactivity OMIM:300454
Smith-Magenis Syndrome
Hyperactivity, Short stature, Self hugging, Head-banging, Seizure, EEG abnormality, Onychotilloma... OMIM:182290
Juvenile Neuronal Ceroid Lipofuscinosis
Interictal EEG abnormality, Bilateral tonic-clonic seizure, Depression, Seizure, Myoclonic spasms... ORPHA:79264
Autism Spectrum Disorder Due To Auts2 Deficiency
Hyperactivity, Short stature, Repetitive compulsive behavior, Seizure, Compulsive behaviors, Atte... ORPHA:352490
Chromosome Xq25 Duplication Syndrome
Seizure, Hyperactivity, Short stature OMIM:300979
Early-Onset Autosomal Dominant Alzheimer Disease
Ataxia, Seizure, Agitation, Disinhibition, Myoclonus, Abnormal social behavior ORPHA:1020
Intellectual Developmental Disorder, X-Linked 30
Restlessness, Hyperactivity, Short stature, Bilateral tonic-clonic seizure, Aggressive behavior, ... OMIM:300558
Potocki-Lupski Syndrome
Hyperactivity, Short stature, Oral-pharyngeal dysphagia, Seizure, EEG abnormality, Abnormal repet... OMIM:610883
Intellectual Developmental Disorder, Autosomal Recessive 41
Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizur... OMIM:615637
Xq28 (MECP2) duplication
Inability to walk, Gait ataxia, Depression, Seizure, Dysphagia, Abnormal repetitive mannerisms DECIPHER:45
Gm2 Gangliosidosis, Ab Variant
Short stature, Postnatal growth retardation, Abnormal fear-induced behavior, Seizure, Inappropria... ORPHA:309246
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Short stature, Impulsivity, Aggressive behavior, Attention deficit hyperactivity d... OMIM:620141
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Seizure, Hyperactivity, Attention deficit hyperactivity disorder OMIM:617182
Hijazi-Reis Syndrome
Postnatal growth retardation, Seizure, Abnormal repetitive mannerisms, Gait disturbance OMIM:301094
Growth Hormone Deficiency, Isolated Partial
Postnatal growth retardation, Short stature OMIM:615925
Angelman Syndrome
Hyperactivity, Broad-based gait, Ataxia, Generalized myoclonic seizure, Atonic seizure, Aggressiv... ORPHA:72
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
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Short stature, Bilateral tonic-clonic seizure, Depression, Seizure, Gait disturbance, Abnormal re... ORPHA:457240
Rett Syndrome, Congenital Variant
Tongue thrusting, Irritability, Athetosis, Seizure, EEG abnormality, Impaired social interactions... OMIM:613454
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Broad-based gait, Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic s... ORPHA:98795
Short Stature, Developmental Delay, And Congenital Heart Defects
Proportionate short stature, Self-injurious behavior, Attention deficit hyperactivity disorder, C... OMIM:617044
Chromosome 2Q37 Deletion Syndrome
Hyperactivity, Short stature, Aggressive behavior, Self-injurious behavior, Seizure, Skin-picking... OMIM:600430
Developmental And Epileptic Encephalopathy 2
Generalized-onset seizure, Multifocal seizures, Infantile spasms, Inability to walk, Hypsarrhythm... OMIM:300672
Intellectual Developmental Disorder, Autosomal Recessive 13
Seizure, Hyperactivity, Recurrent hand flapping, Bruxism OMIM:613192
Optic Atrophy 11
Hyperactivity, Ataxia, Short stature, Gait apraxia, EEG with focal sharp waves, Dysmetria, Atheto... OMIM:617302
Adenylosuccinase Deficiency
Hyperactivity, Aggressive behavior, Inability to walk, Gait ataxia, Growth delay, Seizure, Inappr... OMIM:103050
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Ataxia, Bilateral tonic-clonic seizure, Nocturnal seizures, Myoclonus, Attention deficit hyperact... OMIM:619725
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome
Postnatal growth retardation, Seizure, Abnormal repetitive mannerisms ORPHA:529965
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Aggressive behavior, Seizure, Attention deficit hyperactivity disorder, Obsessive-compulsive trai... OMIM:618825
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Focal-onset seizure, Inability to walk, Seizure, Status epilepticus, Interictal epileptiform acti... OMIM:617802
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Hyperactivity, Short stature, Aggressive behavior, Irritability, Abnormal repetitive mannerisms ORPHA:391307
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Hyperactivity, Short stature, Aggressive behavior, Attention deficit hyperactivity disorder, Brux... OMIM:618342
Alazami Syndrome
Abnormal eating behavior, Postnatal growth retardation, Seizure, Abnormal repetitive mannerisms, ... ORPHA:319671
Macrocephaly-Developmental Delay Syndrome
Self-injurious behavior, Seizure, Abnormal repetitive mannerisms, EEG with generalized slow activity ORPHA:397612
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Ataxia, Tonic seizure, Repetitive compulsive behavior, Inability to walk, Bruxism, Generalized no... OMIM:300260
Inverted Duplicated Chromosome 15 Syndrome
Hyperactivity, Aggressive behavior, Self-biting, Growth delay, Seizure, Abnormal repetitive manne... ORPHA:3306
Primary Dystonia, Dyt13 Type
Abnormal repetitive mannerisms ORPHA:98807
Den Hoed-De Boer-Voisin Syndrome
EEG with focal spike waves, Ataxia, Generalized clonic seizure, Inability to walk, Focal myocloni... OMIM:619229
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures
Hyperactivity, Short stature, Aggressive behavior, Inability to walk, Choreoathetosis, Self-injur... OMIM:620023
Kleine-Levin Syndrome
Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Depressi... ORPHA:33543
Cerebral Creatine Deficiency Syndrome 1
Broad-based gait, Short stature, Aggressive behavior, Seizure, Gait disturbance, Impaired social ... OMIM:300352
Coffin-Siris Syndrome 6
Short stature, Seizure, Tics, Attention deficit hyperactivity disorder, Abnormal repetitive manne... OMIM:617808
Rett Syndrome
Inability to walk, Seizure, EEG abnormality, Gait disturbance, Agitation, Difficulty walking, Abn... ORPHA:778
Pilarowski-Bjornsson Syndrome
Postnatal growth retardation, Seizure, Abnormal repetitive mannerisms OMIM:617682
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Hyperactivity, Generalized non-motor (absence) seizure, Tics, Inappropriate laughter, Low frustra... ORPHA:363686
Developmental And Speech Delay Due To Sox5 Deficiency
Aggressive behavior, Self-injurious behavior, Seizure, Attention deficit hyperactivity disorder, ... ORPHA:313892
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Ataxia, Short stature, Aggressive behavior, Self-injurious behavior, Seizure, Gait disturbance, A... OMIM:300986
Chromosome 15Q11.2 Deletion Syndrome
Ataxia, Short stature, Seizure, Attention deficit hyperactivity disorder, Impaired social interac... OMIM:615656
Intellectual Developmental Disorder, X-Linked 107
Seizure, Hyperactivity, Attention deficit hyperactivity disorder, Aggressive behavior OMIM:301013
X-Linked Intellectual Disability, Cantagrel Type
Seizure, Abnormal repetitive mannerisms ORPHA:85277
Houge-Janssens Syndrome 3
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset seiz... OMIM:618354
Angelman Syndrome
Hyperactivity, Broad-based gait, Ataxia, Seizure, Progressive gait ataxia, EEG abnormality, Parox... OMIM:105830
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Bilateral tonic-clonic seizure, Infantile spasms, Inability to walk, Generalized non-motor (absen... ORPHA:457351
Metachromatic Leukodystrophy, Late Infantile Form
Decreased nerve conduction velocity, Gait ataxia, Seizure, Progressive gait ataxia, Tip-toe gait,... ORPHA:309256
Infantile Neuroaxonal Dystrophy
Hyperactivity, Ataxia, Impulsivity, Unsteady gait, Seizure, Gait disturbance, Choking episodes, E... ORPHA:35069
Intellectual Developmental Disorder, Autosomal Recessive 71
Seizure, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:618504
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Inability to walk, Seizure, Abnormal repetitive mannerisms OMIM:613443
4Q21 Microdeletion Syndrome
Growth delay, Self-injurious behavior, Seizure, Intrauterine growth retardation, Abnormal repetit... ORPHA:238750
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Ataxia, Seizure, Agitation, Emotional lability, Abnormal repetitive mannerisms ORPHA:927
Cri-Du-Chat Syndrome
Hyperactivity, Aggressive behavior, Growth delay, Difficulty walking, Abnormal repetitive manneri... OMIM:123450
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Hyperactivity, Ataxia, Aggressive behavior, Seizure, Compulsive behaviors, Abnormal repetitive ma... OMIM:618430
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hyperactivity, Generalized-onset seizure, Self-biting, Seizure, Status epilepticus OMIM:618314
Developmental And Epileptic Encephalopathy 64
Inability to walk, Self-injurious behavior, Seizure, Status epilepticus, Bruxism, Abnormal repeti... OMIM:618004
Blepharophimosis-Impaired Intellectual Development Syndrome
Seizure, Low frustration tolerance, Attention deficit hyperactivity disorder, Abnormal repetitive... OMIM:619293
5Q14.3 Microdeletion Syndrome
Seizure, Abnormal repetitive mannerisms ORPHA:228384
Intellectual Developmental Disorder, Autosomal Dominant 48
Intrauterine growth retardation, Hyperactivity, Seizure, Abnormal repetitive mannerisms OMIM:617751
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Hyperactivity, Gait ataxia, Seizure, Low frustration tolerance, Abnormal repetitive mannerisms, S... OMIM:300486
Snijders Blok-Campeau Syndrome
Broad-based gait, Infantile spasms, Unsteady gait, Myoclonic seizure, Attention deficit hyperacti... OMIM:618205
47,Xyy Syndrome
Hyperactivity, Impulsivity, Seizure, Impaired social interactions, Attention deficit hyperactivit... ORPHA:8
Early Infantile Epileptic Encephalopathy
Hyperactivity, Bilateral tonic-clonic seizure, Infantile spasms, Generalized clonic seizure, Foca... ORPHA:1934
Ritscher-Schinzel Syndrome 4
Ataxia, Short stature, Impulsivity, Aggressive behavior, Bilateral tonic-clonic seizure, Focal-on... OMIM:619435
48,Xxyy Syndrome
Ataxia, Depression, Seizure, Attention deficit hyperactivity disorder, Abnormal repetitive manner... ORPHA:10
Intellectual Developmental Disorder, Autosomal Dominant 52
Hyperactivity, Pica, Irritability, Seizure, Obsessive-compulsive trait, Abnormal repetitive manne... OMIM:617796
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hyperactivity, Bilateral tonic-clonic seizure, Infantile spasms, Hair-pulling, Hypsarrhythmia, Ir... ORPHA:447997
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Aggressive behavior, Scissor gait, Dysmetria, Growth delay, Attention deficit hyperactivity disor... OMIM:619121
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Broad-based gait, Generalized-onset seizure, Gait ataxia, Difficulty walking, Abnormal repetitive... OMIM:617807
Proximal 16P11.2 Microdeletion Syndrome
Choreoathetosis, Seizure, Impaired social interactions, Attention deficit hyperactivity disorder,... ORPHA:261197
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Short stature, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Inappropr... OMIM:615802
Intellectual Developmental Disorder, Autosomal Dominant 34
Broad-based gait, Abnormal repetitive mannerisms, Bilateral tonic-clonic seizure, Bruxism OMIM:616351
White-Sutton Syndrome
Waddling gait, Hyperactivity, Short stature, Aggressive behavior, Hypoglycemic seizures, Self-inj... OMIM:616364
Smith-Magenis Syndrome
Short stature, Self-injurious behavior, Seizure, EEG abnormality, Gait disturbance, Attention def... ORPHA:819
22Q11.2 Duplication Syndrome
Growth delay, Seizure, Attention deficit hyperactivity disorder, Compulsive behaviors, Abnormal r... ORPHA:1727
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Spastic ataxia, Postnatal growth retardation, Inability to walk, Focal-onset seizure, Delayed ear... ORPHA:300570
Metachromatic Leukodystrophy, Juvenile Form
Decreased nerve conduction velocity, Seizure, Progressive gait ataxia, Emotional lability, Abnorm... ORPHA:309263
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome
Myoclonic seizure, Abnormal repetitive mannerisms, Infantile spasms, Dysphagia ORPHA:572013
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Hyperactivity, Aggressive behavior, Seizure, Low frustration tolerance, Compulsive behaviors, Imp... OMIM:309520
Insulin-Like Growth Factor I Deficiency
Postnatal growth retardation, Intrauterine growth retardation, Hyperactivity, Short stature OMIM:608747
Argininemia
Hyperactivity, Anorexia, Postnatal growth retardation, Irritability, Seizure, Spastic gait OMIM:207800
Coffin-Siris Syndrome 7
Hyperactivity, Short stature, Severe temper tantrums, Compulsive behaviors, Abnormal repetitive m... OMIM:618027
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features
Gait ataxia, Abnormal repetitive mannerisms, Overfriendliness OMIM:616579
Developmental And Epileptic Encephalopathy 100
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Focal-onset seizure, Typical abs... OMIM:619777
X-Linked Creatine Transporter Deficiency
Hyperactivity, Ataxia, Short stature, Athetosis, Seizure, Self-mutilation ORPHA:52503
Megalocornea-Intellectual Disability Syndrome
Short stature, Ataxia, Seizure, EEG abnormality, Abnormal repetitive mannerisms ORPHA:2479
White-Sutton Syndrome
Hyperactivity, Short stature, Aggressive behavior, Self-injurious behavior, Seizure, EEG abnormal... ORPHA:468678
Rauch-Steindl Syndrome
Hyperactivity, Short stature, Aggressive behavior, Postnatal growth retardation, Intrauterine gro... OMIM:619695
Metachromatic Leukodystrophy, Adult Form
Decreased nerve conduction velocity, Depression, Seizure, Progressive gait ataxia, Difficulty wal... ORPHA:309271
48,Xxxy Syndrome
Irritability, Seizure, Attention deficit hyperactivity disorder, Abnormal social behavior, Abnorm... ORPHA:96263
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Aggressive behavior, Self-injurious behavior, Seizure, Compulsive behaviors, Dysphagia, Attention... OMIM:617061
Dihydropyrimidine Dehydrogenase Deficiency
Inability to walk, Focal motor seizure, Multifocal epileptiform discharges, Irritability, Seizure... ORPHA:1675
Radio-Tartaglia Syndrome
Ataxia, Impulsivity, Aggressive behavior, Seizure, Gait imbalance, Attention deficit hyperactivit... OMIM:619312
Phelan-Mcdermid Syndrome
Broad-based gait, Aggressive behavior, Tongue thrusting, Unsteady gait, Seizure, Impaired social ... OMIM:606232
Developmental And Epileptic Encephalopathy 49
Hyperactivity, Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Myoclonic seizure, ... OMIM:617281
Van Esch-O'Driscoll Syndrome
Short stature, Impulsivity, Shyness, Growth delay, Seizure, Attention deficit hyperactivity disor... OMIM:301030
Chromosome 5P13 Duplication Syndrome
Self-injurious behavior, Seizure, Abnormal repetitive mannerisms, Compulsive behaviors OMIM:613174
Tuberous Sclerosis Complex
Hyperactivity, Epileptic spasm, Impulsivity, Aggressive behavior, Infantile spasms, Repetitive co... ORPHA:805
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Clonic seizure, Tics, Compulsive behaviors, Abnormal repetitive mannerisms, Restrictive behavior,... OMIM:619475
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Head-banging, Seizure, Attention deficit hyperactivity disorder, Frequent temper tantrums, Abnorm... OMIM:619103
Wiedemann-Steiner Syndrome
Hyperactivity, Short stature, Rhizomelia, Aggressive behavior, Postnatal growth retardation, Seiz... ORPHA:319182
Congenital Disorder Of Glycosylation, Type Iia
Short stature, Aggressive behavior, Postnatal growth retardation, Unsteady gait, Seizure, Abnorma... OMIM:212066
Intellectual Developmental Disorder, Autosomal Dominant 38
Ataxia, Infantile spasms, Aggressive behavior, Hair-pulling, Self-injurious behavior, Bruxism, Ab... OMIM:616393
Mend Syndrome
Hyperactivity, Short stature, Abnormal auditory evoked potentials, Aggressive behavior, Seizure, ... ORPHA:401973
Foxg1 Syndrome Due To 14Q12 Microdeletion
Growth delay, Seizure, Abnormal repetitive mannerisms ORPHA:261144
3P25.3 Microdeletion Syndrome
Ataxia, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Attention defici... ORPHA:435638
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Abnormal repetitive manne... OMIM:620073
Prader-Willi Syndrome Due To Translocation
Short stature, Head-banging, Seizure, Abnormal temper tantrums, Skin-picking, Compulsive behavior... ORPHA:177907
Fg Syndrome Type 1
Broad-based gait, Short stature, Seizure, Attention deficit hyperactivity disorder, Compulsive be... ORPHA:93932
Neurodegeneration With Brain Iron Accumulation 2B
Hyperactivity, Impulsivity, Dysmetria, Gait ataxia, Seizure, Dysdiadochokinesis, Dysphagia, Emoti... OMIM:610217
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Seizure, EEG abnormality, Attention deficit hyperactivity disorder, Intrauterine growth retardati... OMIM:619005
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Seizure, Abnormal repetitive mannerisms ORPHA:500159
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Self-injurious behavior, Abnormal repetitive mannerisms, Impulsivity, Aggressive behavior OMIM:618914
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Ataxia, Aggressive behavior, Unsteady gait, Seizure, Low frustration tolerance, Abnormal temper t... ORPHA:457279
Cystinosis
Short stature, Gait disturbance, Delayed puberty, Polydipsia, Abnormal repetitive mannerisms ORPHA:213
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Ataxia, Repetitive compulsive behavior, EEG with focal sharp waves, Self-biting, Choreoathetosis,... ORPHA:522077
Transketolase Deficiency
Proportionate short stature, Self-injurious behavior, Attention deficit hyperactivity disorder, C... ORPHA:488618
2Q37 Microdeletion Syndrome
Short stature, Seizure, Attention deficit hyperactivity disorder, Compulsive behaviors, Abnormal ... ORPHA:1001
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Aggressive behavior, Gait ataxia, Seizure, Attention deficit hyperactivity disorder, Compulsive b... ORPHA:476126
7Q11.23 Microduplication Syndrome
Hyperactivity, Collectionism, Short stature, Aggressive behavior, Unsteady gait, Polyphagia, Dysm... ORPHA:96121
Nmda Receptor Encephalitis
Generalized-onset seizure, Hypersexuality, Focal-onset seizure, EEG with temporal sharp slow wave... ORPHA:217253
Niemann-Pick Disease Type C
Generalized-onset seizure, Ataxia, Aggressive behavior, Focal-onset seizure, Depression, Seizure,... ORPHA:646
Microcephaly 29, Primary, Autosomal Recessive
Emotional lability, Hyperactivity, Seizure, Ataxia OMIM:620047
Choreoacanthocytosis
Self-mutilation of tongue and lips due to involuntary movements, Hyperactivity, Bilateral tonic-c... ORPHA:2388
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Repetitive compulsive behavior, Hypersexuality, Agitation, Disinhibition, Polyphagia OMIM:607485
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Ataxia, Bilateral tonic-clonic seizure, Growth delay, Dysphagia, Febrile seizure (within the age ... ORPHA:496641
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Hyperactivity, Short stature, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, G... ORPHA:353281
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Ataxia, Aggressive behavior, Unsteady gait, Dysmetria, Nonprogressive cerebellar ataxia, Abnormal... ORPHA:314647
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Short stature, Head-banging, Self-injurious behavior, Seizure, Attention deficit hyperactivity di... OMIM:619575
Kleefstra Syndrome 1
Seizure, Abnormal repetitive mannerisms, Compulsive behaviors, Aggressive behavior OMIM:610253
Helsmoortel-Van Der Aa Syndrome
Hyperactivity, Short stature, Tonic seizure, Abnormal repetitive mannerisms, Typical absence seiz... OMIM:615873
Bainbridge-Ropers Syndrome
Inability to walk, Growth delay, Self-injurious behavior, Seizure, Intrauterine growth retardatio... OMIM:615485
Koolen-De Vries Syndrome Due To A Point Mutation
Generalized-onset seizure, Postnatal growth retardation, Focal hemiclonic seizure, Focal-onset se... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Generalized-onset seizure, Postnatal growth retardation, Focal hemiclonic seizure, Focal-onset se... ORPHA:363958
Kleefstra Syndrome
Short stature, Aggressive behavior, Self-injurious behavior, Seizure, Abnormal repetitive manneri... ORPHA:261494
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
EEG with parietal focal spikes, Multifocal seizures, Aggressive behavior, EEG with central focal ... OMIM:301066
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Multifocal seizures, Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Hypsa... OMIM:301044
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Bilateral tonic-clonic seizure, Postnatal growth retardation, Growth delay, Seizure, Abnormal rep... OMIM:301040
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Hyperactivity, Broad-based gait, Ataxia, Short stature, Bilateral tonic-clonic seizure, Aggressiv... OMIM:614756
Hydroxykynureninuria
Abnormal repetitive mannerisms ORPHA:79155
Niemann-Pick Disease, Type C2
Seizure, Abnormal repetitive mannerisms, Ataxia, Dysphagia OMIM:607625
Mucopolysaccharidosis Type 2
Hyperactivity, Short stature, Impulsivity, Aggressive behavior, Decreased nerve conduction veloci... ORPHA:580
Kinsship Syndrome
Bilateral tonic-clonic seizure, Short stature, Focal-onset seizure, Generalized non-motor (absenc... OMIM:619297
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Hyperactivity, Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure, Self-injurious b... OMIM:619512
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Nail-biting, Broad-based gait, Bilateral tonic-clonic seizure, Aggressive behavior, Hair-pulling,... OMIM:620330
Joubert Syndrome 6
Abnormal repetitive mannerisms, Ataxia OMIM:610688
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Simple febrile seizure, Birth length less than 3rd percentile, Seizure, Gait disturbance, Attenti... ORPHA:464311
Pitt-Hopkins Syndrome
Self-injurious behavior, Seizure, Abnormal repetitive mannerisms, Gait ataxia OMIM:610954
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
Hypotonia, Ataxia, And Delayed Development Syndrome
Broad-based gait, Ataxia, Short stature, Truncal ataxia, Dysmetria, Gait ataxia, Seizure, Dysphag... OMIM:617330
Dyrk1A-Related Intellectual Disability Syndrome
Hyperactivity, Short stature, Seizure, Gait disturbance, Intrauterine growth retardation, Febrile... ORPHA:464306
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Generalized-onset seizure, Inability to walk, Disproportionate short stature, Seizure, Abnormal r... ORPHA:508533
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Broad-based gait, Bilateral tonic-clonic seizure, Repetitive compulsive behavior, Generalized non... ORPHA:513456
Oculocerebrorenal Syndrome Of Lowe
Short stature, Depression, Self-injurious behavior, Seizure, EEG abnormality, Compulsive behavior... ORPHA:534
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Severe short stature, Self-injurious behavior, Seizure, Intrauterine growth retardation, Abnormal... ORPHA:468631
Norrie Disease
Self-injurious behavior, Irritability, Seizure, EEG abnormality, Attention deficit hyperactivity ... ORPHA:649
Ogden Syndrome
Generalized-onset seizure, Short stature, Bilateral tonic-clonic seizure, Postnatal growth retard... OMIM:300855
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Seizure, Hyperactivity, Abnormal repetitive mannerisms, Short stature OMIM:309590
1P36 Deletion Syndrome
Short stature, Polyphagia, Self-injurious behavior, Seizure, EEG abnormality, Gait disturbance, D... ORPHA:1606
Wolf-Hirschhorn Syndrome
Short stature, Growth delay, Severe postnatal growth retardation, Seizure, EEG abnormality, Intra... OMIM:194190
Arboleda-Tham Syndrome
Growth delay, Seizure, Gait imbalance, Dysphagia, Intrauterine growth retardation, Abnormal repet... OMIM:616268
Histidinemia
Hyperactivity ORPHA:2157
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Loss of ambulation, Seizure, Unsteady gait, Abnormal repetitive mannerisms OMIM:616682
Lowe Oculocerebrorenal Syndrome
Short stature, Aggressive behavior, Postnatal growth retardation, Seizure, Abnormal repetitive ma... OMIM:309000
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Abnormal repetitive mannerisms, Difficulty walking OMIM:618653
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Abnormal repetitive mannerisms, Short stature ORPHA:508498
Mowat-Wilson Syndrome
Broad-based gait, Ataxia, Short stature, Inability to walk, Focal-onset seizure, Bruxism, Growth ... ORPHA:2152
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Short stature, Growth delay, Seizure, Attention deficit hyperactivity disorder, Dysphagia, Intrau... OMIM:619522
Primrose Syndrome
Restlessness, Ataxia, Short stature, Aggressive behavior, Self-injurious behavior, Seizure, Tics,... OMIM:259050
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Self-injurious behavior,... OMIM:612474
Williams Syndrome
Ataxia, Short stature, Dysmetria, Depression, Gait disturbance, Gait imbalance, Compulsive behavi... ORPHA:904
Coffin-Siris Syndrome 12
Seizure, Abnormal repetitive mannerisms, Short stature OMIM:619325
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Broad-based gait, Short stature, Inability to walk, Focal-onset seizure, Bruxism, Seizure, EEG ab... ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Broad-based gait, Short stature, Inability to walk, Focal-onset seizure, Bruxism, Seizure, EEG ab... ORPHA:261552

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 Sh3rf2

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 Sh3rf2.

No publications found that use IMPC mice or data for Sh3rf2.

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MGI Allele Allele Type Produced
Sh3rf2em1(IMPC)Mbp Exon Deletion Mice, Tissue

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