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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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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, Seizure, Inflexible adherence to routines, Motor stereotypy, EEG abnormalit... OMIM:607373
Autism
Restrictive behavior, Seizure, Inflexible adherence to routines, Motor stereotypy, EEG abnormalit... OMIM:209850
Chromosome 15Q11-Q13 Duplication Syndrome
Restrictive behavior, Truncal ataxia, Seizure, Bilateral tonic-clonic seizure, Inflexible adheren... OMIM:608636
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity, EEG abnormality, Seizure, Abnormal social behavior ORPHA:436151
Autism, Susceptibility To, X-Linked 3
Restrictive behavior, Seizure, Inflexible adherence to routines, Motor stereotypy, EEG abnormality OMIM:300496
Autism, Susceptibility To, X-Linked 1
Restrictive behavior, Seizure, Inflexible adherence to routines, Motor stereotypy, EEG abnormality OMIM:300425
Asperger Syndrome, Susceptibility To, 1
Inflexible adherence to routines, Impaired ability to form peer relationships, Restrictive behavi... OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Inflexible adherence to routines, Impaired ability to form peer relationships, Restrictive behavi... OMIM:608631
Autism, Susceptibility To, 20
Attention deficit hyperactivity disorder, Reduced social reciprocity, Compulsive behaviors OMIM:618830
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
Agitation, Emotional lability, Bilateral tonic-clonic seizure, Status epilepticus, Motor stereoty... OMIM:617171
Developmental And Epileptic Encephalopathy 104
Epileptic spasm, Agitation, Hyperactivity, Hypsarrhythmia, Seizure, Bilateral tonic-clonic seizur... OMIM:619970
Female Restricted Epilepsy With Intellectual Disability
Generalized non-motor (absence) seizure, Generalized clonic seizure, Generalized myoclonic seizur... ORPHA:101039
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Focal-onset seizure, Falls, Seizure, Inappropriate laughter, Ataxia, Motor stereotypy, Focal moto... OMIM:619150
Intellectual Developmental Disorder, Autosomal Recessive 64
Seizure, Reduced social reciprocity, Aggressive behavior OMIM:618103
Intellectual Developmental Disorder With Autism And Speech Delay
Inability to walk, Reduced social reciprocity, Motor stereotypy OMIM:606053
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Seizure, Motor stereotypy, Short stature OMIM:300271
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Inability to walk, Seizure, Reduced social reciprocity, Motor stereotypy, Self-injurious behavior... OMIM:617820
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Attention deficit hyperactivity disorder, Seizure, Motor stereotypy OMIM:617787
Landau-Kleffner Syndrome
Hyperactivity, Focal motor seizure, Impulsivity, Gait ataxia, Atypical absence seizure, Aggressiv... ORPHA:98818
Autism, Susceptibility To, 3
Restrictive behavior, Seizure, Inflexible adherence to routines, Motor stereotypy, EEG abnormalit... OMIM:608049
Stxbp1-Related Encephalopathy
Epileptic spasm, Generalized myoclonic seizure, Inability to walk, Hyperactivity, Hypsarrhythmia,... ORPHA:599373
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Hypsarrhythmia, Infantile spasms, Impulsivity, Bilateral tonic-clonic seizure, Aty... OMIM:617113
Intellectual Developmental Disorder, Autosomal Recessive 66
Attention deficit hyperactivity disorder, Gait ataxia, Excessive shyness, Aggressive behavior OMIM:618221
Lennox-Gastaut Syndrome
Irritability, Generalized myoclonic seizure, Focal-onset seizure, Generalized tonic seizure, Fall... ORPHA:2382
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Seizure, Bruxism, Aggressive behavior OMIM:615493
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Seizure, Bruxism, Aggressive behavior ORPHA:356996
Hyperprolinemia, Type I
Hyperactivity, Seizure, Status epilepticus, Ataxia, Motor stereotypy, EEG abnormality, Aggressive... OMIM:239500
Autism, Susceptibility To, X-Linked 2
Restrictive behavior, Seizure, Inflexible adherence to routines, Motor stereotypy, EEG abnormality OMIM:300495
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity, Short stature DECIPHER:19
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Seizure, Impulsivity, Febrile seizure (within the age range of 3 months to 6 years... OMIM:301008
Cdkl5-Deficiency Disorder
Difficulty walking, Focal-onset seizure, Generalized tonic seizure, Infantile spasms, Stereotypic... ORPHA:505652
Developmental And Epileptic Encephalopathy 58
Inability to walk, Hypsarrhythmia, Seizure, Motor stereotypy, Status epilepticus OMIM:617830
Behavioral Variant Of Frontotemporal Dementia
Inappropriate behavior, Irritability, Emotional blunting, Restrictive behavior, Gait disturbance,... ORPHA:275864
Smith-Magenis syndrome
Hyperactivity, Self-mutilation, Motor stereotypy, Short stature DECIPHER:8
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Focal aware seizure, Generalized-onset seizure, Bilateral tonic-clonic seizure wit... OMIM:610042
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Developmental And Epileptic Encephalopathy 30
Generalized myoclonic seizure, Hypsarrhythmia, Seizure, Bilateral tonic-clonic seizure, Motor ste... OMIM:616341
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Irritability, Inability to walk, Hyperactivity, Seizure, Generalized-onset seizure OMIM:616657
Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting
Hyperactivity, Seizure, Impulsivity, Gait ataxia, Dysphagia, Status epilepticus OMIM:620448
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Inability to walk, Hyperactivity, Seizure, Motor stereotypy, Self-injurious behavior, EEG abnorma... OMIM:618718
Hartnup Disorder
Hyperactivity, Emotional lability, Seizure, Episodic ataxia, Short stature, Attention deficit hyp... OMIM:234500
N-Acetylaspartate Deficiency
Broad-based gait, Truncal ataxia, Seizure, Short stature, Unsteady gait, Motor stereotypy, Self-m... OMIM:614063
Intellectual Developmental Disorder, X-Linked 109
Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Short statu... OMIM:309548
Rasmussen Subacute Encephalitis
Epilepsia partialis continua, Focal-onset seizure, Hyperactivity, Focal motor seizure, Irritabili... ORPHA:1929
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Generalized myoclonic seizure, Inability to walk, Hyperactivity, Delayed early-childhood social m... OMIM:618090
Foxg1 Syndrome
Difficulty walking, Focal-onset seizure, Inability to walk, Severe postnatal growth retardation, ... ORPHA:561854
Developmental And Epileptic Encephalopathy 26
Hypsarrhythmia, Infantile spasms, Bilateral tonic-clonic seizure, Stereotypical hand wringing, Bi... OMIM:616056
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity, Short stature OMIM:616311
Fraxe Intellectual Disability
Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Short statu... ORPHA:100973
Developmental And Epileptic Encephalopathy 67
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Hypsarrhythmia, Athetosis... OMIM:618141
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Developmental And Epileptic Encephalopathy 107
Seizure, Clonic seizure, Tonic seizure, Motor stereotypy OMIM:620033
Pick Disease Of Brain
Irritability, Emotional blunting, Polyphagia, Inappropriate laughter, Disinhibition, Motor stereo... OMIM:172700
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Self-injurious behavior, Seizure, Reduced social reciprocity, Stereotypical hand wringing ORPHA:397933
Schizophrenia 15
Hyperactivity OMIM:613950
Hereditary Geniospasm
Chin myoclonus, Abnormal social behavior ORPHA:53372
Late Infantile Neuronal Ceroid Lipofuscinosis
Focal-onset seizure, Hyperactivity, Myoclonic seizure, Atonic seizure, Ataxia, Myoclonus, Aggress... ORPHA:168491
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Attention deficit hyperactivity disorder, Seizure, Ataxia, Motor stereotypy OMIM:618709
Developmental And Epileptic Encephalopathy 6B
Generalized non-motor (absence) seizure, Epileptic spasm, Focal-onset seizure, Inability to walk,... OMIM:619317
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Broad-based gait, Recurrent hand flapping, Bilateral tonic-clonic seizure, Gait ataxia, Short sta... OMIM:617862
Atypical Rett Syndrome
Agitation, Generalized myoclonic seizure, Restrictive behavior, Inability to walk, Tongue thrusti... ORPHA:3095
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Inappropriate behavior, Nail-biting, Hyperactivity, Seizure, Generalized-onset seizure, EEG with ... OMIM:619827
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Irritability, Difficulty walking, Focal-onset seizure, Nocturnal seizures, Seizure, Infantile spa... OMIM:617393
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Hyperactivity, Seizure, Infantile spasms, Self-injurious behavior, Aggressive behavior OMIM:619031
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Seizure, Motor stereotypy, Intrauterine growth retardation, Self-injurious behavior, Clonic seizure OMIM:615282
Intellectual Developmental Disorder, Autosomal Recessive 58
Pica, Short stature, Motor stereotypy, Self-injurious behavior, Choreoathetosis, Aggressive behavior OMIM:617270
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Epileptic spasm, Inability to walk, Seizure, Stereotypical hand wringing, Myoclonic seizure, Inap... OMIM:614254
Childhood Absence Epilepsy
Typical absence seizure, Abnormal social behavior, Depression, Myoclonic absence seizure, Limb my... ORPHA:64280
Myoclonic-Astatic Epilepsy
Generalized non-motor (absence) seizure, Abnormal emotion, Focal-onset seizure, Simple febrile se... ORPHA:1942
Glycine Encephalopathy 1
Irritability, Hyperactivity, Seizure, Impulsivity, Restlessness, Myoclonus, Aggressive behavior OMIM:605899
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Focal-onset seizure, Inability to walk, Stereotypical hand wringing, Convulsive status epilepticu... OMIM:618760
Succinic Semialdehyde Dehydrogenase Deficiency
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Hyperactivity, Seizure, B... OMIM:271980
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Anorexia, Irritability, Focal EEG discharges with secondary generalization, Abnormal fear-induced... ORPHA:3077
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Inappropriate behavior, Myoclonus, Gait disturbance, Disinhibition, Motor stereotypy, Restlessnes... OMIM:600795
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Short stature, Reduced social reciprocity, Polyphagia, Aggressive behavior ORPHA:329249
Hsd10 Disease
Postnatal growth retardation, Abnormal social behavior, Seizure, Gait disturbance, Ataxia, Dyspha... ORPHA:391417
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Broad-based gait, Hyperactivity, Seizure, Polyphagia, Inappropriate laughter, Ataxia, EEG abnorma... ORPHA:411515
Intellectual Developmental Disorder, Autosomal Dominant 7
Hyperactivity, Seizure, Stereotypical hand wringing, Gait disturbance, Short stature, Febrile sei... OMIM:614104
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Broad-based gait, Hyperactivity, Seizure, Motor stereotypy, Aggressive behavior OMIM:619470
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Seizure, Ataxia OMIM:613402
Developmental And Epileptic Encephalopathy 109
Typical absence seizure, Hyperactivity, Bilateral tonic-clonic seizure, Gait ataxia, Tonic seizur... OMIM:620145
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Focal-onset seizure, Inability to walk, Compulsive behaviors, Stereotypical hand wringing, Gait a... OMIM:618917
Guanidinoacetate Methyltransferase Deficiency
Generalized myoclonic seizure, Hyperactivity, Seizure, Athetosis, Bilateral tonic-clonic seizure,... ORPHA:382
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Focal hyperkinetic seizure, Nocturnal seizures, Interictal epileptiform activity, EEG with focal ... ORPHA:98784
Developmental And Epileptic Encephalopathy 103
Generalized non-motor (absence) seizure, Eyelid myoclonus, Epileptic spasm, EEG with polyspike wa... OMIM:619913
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders
Attention deficit hyperactivity disorder, Seizure, Motor stereotypy OMIM:620065
Intellectual Developmental Disorder, Autosomal Recessive 6
Atonic seizure, Reduced social reciprocity, Myoclonus OMIM:611092
Lamb-Shaffer Syndrome
Abnormal temper tantrums, Abnormal social behavior, Hyperactivity, Seizure, Ataxia, Motor stereot... ORPHA:530983
Childhood Disintegrative Disorder
Seizure, Abnormal emotion, Reduced social reciprocity, Motor stereotypy ORPHA:168782
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Hyperactivity, Seizure, Generalized-onset seizure, Impulsivity, Bilateral tonic-clonic seizure, E... OMIM:604317
Bilateral Generalized Polymicrogyria
Eyelid myoclonus, Generalized myoclonic seizure, Focal-onset seizure, Typical absence seizure, Or... ORPHA:208447
Clcn4-Related X-Linked Intellectual Disability Syndrome
Generalized non-motor (absence) seizure, Progressive cerebellar ataxia, Hyperactivity, EEG with f... ORPHA:485350
X-Linked Intellectual Disability, Stocco Dos Santos Type
Hyperactivity, Seizure, Short stature ORPHA:85288
Severe Intellectual Disability And Progressive Spastic Paraplegia
Difficulty walking, Seizure, Waddling gait, Excessive shyness, Short stature, Motor stereotypy ORPHA:280763
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Hyperactivity, Seizure, Bilateral tonic-clonic seizure, Febrile seizure (within the age range of ... OMIM:620292
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Hyperactivity, Seizure, Bruxism, Short stature OMIM:300434
Intellectual Developmental Disorder, X-Linked 111
Hyperactivity, Seizure, Compulsive behaviors, Phonic tics, Unsteady gait, Aggressive behavior OMIM:301107
2Q23.1 Microdeletion Syndrome
Hyperactivity, Seizure, Polyphagia, Short stature, Growth delay, Ataxia, Motor stereotypy, Self-i... ORPHA:228402
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Hypsarrhythmia, Seizure, Infantile spasms, EEG with occipital epileptiform discharges, Bilateral ... OMIM:619428
X-Linked Intellectual Disability-Cerebellar Hypoplasia Syndrome
Generalized myoclonic seizure, Ataxia, Reduced social reciprocity, Attention deficit hyperactivit... ORPHA:137831
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Compulsive behaviors, Inflexible adherence to routines, Motor stereotypy, Attention deficit hyper... OMIM:613670
Intellectual Developmental Disorder, Autosomal Recessive 74
Hyperactivity, Seizure, EEG with polyspike wave complexes OMIM:617169
Intellectual Developmental Disorder, X-Linked 98
Postnatal growth retardation, Generalized non-motor (absence) seizure, Generalized myoclonic seiz... OMIM:300912
Neurodevelopmental Disorder With Microcephaly And Movement Abnormalities
Hyperactivity, Seizure, Waddling gait, Impulsivity, Gait ataxia, Short stature, Self-mutilation, ... OMIM:620445
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Epileptic spasm, Inability to walk, Tongue thrusting, Emotional lability, Recurrent hand flapping... OMIM:619580
11Q22.2Q22.3 Microdeletion Syndrome
Attention deficit hyperactivity disorder, Seizure, Compulsive behaviors, Abnormal social behavior ORPHA:444002
Baker-Gordon Syndrome
Inability to walk, Ataxia, Motor stereotypy, Self-injurious behavior, EEG abnormality, Choreoathe... OMIM:618218
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Generalized non-motor (absence) seizure, Inability to walk, Generalized tonic seizure, Hypsarrhyt... ORPHA:411986
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Abnormal temper tantrums, Irritability, Hyperactivity, Depression, Seizure, Recurrent hand flappi... ORPHA:449291
Pontocerebellar Hypoplasia, Type 11
Limb ataxia, Difficulty walking, Inability to walk, Broad-based gait, Seizure, Short stature, Ata... OMIM:617695
Cntnap2-Related Developmental And Epileptic Encephalopathy
Abnormal temper tantrums, Focal-onset seizure, Hyperactivity, EEG with focal spikes, Interictal e... ORPHA:163681
Obesity, Hyperphagia, And Developmental Delay
Generalized non-motor (absence) seizure, Seizure, Polyphagia, Motor stereotypy OMIM:613886
Galloway-Mowat Syndrome 6
Seizure, Growth delay, Short stature, Motor stereotypy, Intrauterine growth retardation, Paroxysm... OMIM:618347
Juvenile Huntington Disease
Irritability, Progressive cerebellar ataxia, Broad-based gait, Hyperactivity, Depression, Seizure... ORPHA:248111
Syngap1-Related Developmental And Epileptic Encephalopathy
Obsessive-compulsive trait, Myoclonic absence seizure, Generalized-onset seizure, Recurrent hand ... ORPHA:544254
Xq25 Microduplication Syndrome
Hyperactivity, Seizure, Short stature ORPHA:521258
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity, Seizure OMIM:300928
Phenylketonuria
Irritability, Hyperactivity, Depression, Seizure, Compulsive behaviors, Attention deficit hyperac... OMIM:261600
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Seizure, Recurrent hand flapping, Febrile seizure (within the age range of 3 month... OMIM:615516
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Inability to walk, Hyperactivity, Seizure, Impulsivity, Gait ataxia, Dysphagia, EEG abnormality, ... ORPHA:500180
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
Postnatal growth retardation, Hyperactivity, Depression, Seizure, Dysphoria, Motor stereotypy, At... OMIM:620242
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Emotional lability, Disinhibition, Dysphagia, Motor stereotypy OMIM:612069
Chromosome 3Q29 Deletion Syndrome
Hyperactivity, Gait ataxia, Motor stereotypy, Aggressive behavior OMIM:609425
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Attention deficit hyperactivity disorder, Seizure, Spastic ataxia, Motor stereotypy OMIM:618906
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Short stature, Motor stereotypy, Aggressive behavior OMIM:615541
Intellectual Developmental Disorder, Autosomal Dominant 67
Hyperactivity, Seizure, Compulsive behaviors, Motor tics, Attention deficit hyperactivity disorder OMIM:619927
Gand Syndrome
Hyperactivity, Tics, Inappropriate laughter OMIM:615074
Developmental And Epileptic Encephalopathy 66
Focal-onset seizure, Generalized tonic seizure, Broad-based gait, Seizure, Focal tonic seizure, B... OMIM:618067
Angelman Syndrome Due To A Point Mutation
Gait imbalance, Tongue thrusting, Broad-based gait, Seizure, Recurrent hand flapping, Inappropria... ORPHA:411511
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines, Bilateral tonic-clonic seizure OMIM:301076
Brunet-Wagner Neurodevelopmental Syndrome
Self-injurious behavior, Myoclonic seizure, Motor stereotypy OMIM:619690
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Hyperactivity, Hypsarrhythmia, Infantile spasms, Seizure, Tonic seizure, EEG with burst suppression OMIM:619239
Intellectual Developmental Disorder, Autosomal Dominant 45
Generalized non-motor (absence) seizure, Hyperactivity, Recurrent hand flapping, Bilateral tonic-... OMIM:617600
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Gait imbalance, Tongue thrusting, Broad-based gait, Hyperactivity, Seizure, Recurrent hand flappi... ORPHA:98794
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hyperactivity, Seizure, Ataxia, Myoclonus OMIM:615924
Christianson Syndrome
Truncal ataxia, Generalized-onset seizure, Gait ataxia, Inappropriate laughter, Dysphagia, Motor ... ORPHA:85278
Shukla-Vernon Syndrome
Broad-based gait, Seizure, Impulsivity, Motor stereotypy, Attention deficit hyperactivity disorde... OMIM:301029
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity, Febrile seizure (within the age range of 3 months to 6 years) OMIM:300454
Dentici-Novelli Neurodevelopmental Syndrome
Epileptic spasm, Inability to walk, Hypsarrhythmia, Bilateral tonic-clonic seizure, Myoclonic sei... OMIM:619877
Usmani-Riazuddin Syndrome, Autosomal Dominant
Hyperactivity, Depression, Seizure, Compulsive behaviors, Self-injurious behavior, Aggressive beh... OMIM:619467
Lopes-Maciel-Rodan Syndrome
Agitation, Seizure, Unsteady gait, Dysphagia, Motor stereotypy, Focal impaired awareness seizure,... OMIM:617435
Juvenile Neuronal Ceroid Lipofuscinosis
Depression, Emotional lability, Seizure, Interictal EEG abnormality, Myoclonic spasms, Bilateral ... ORPHA:79264
Autism Spectrum Disorder Due To Auts2 Deficiency
Hyperactivity, Seizure, Compulsive behaviors, Short stature, Repetitive compulsive behavior, Moto... ORPHA:352490
Smith-Magenis Syndrome
Abnormal nerve conduction velocity, Hyperactivity, Head-banging, Seizure, Self hugging, Short sta... OMIM:182290
Intellectual Developmental Disorder, Autosomal Recessive 41
Generalized non-motor (absence) seizure, Generalized-onset seizure, Bilateral tonic-clonic seizur... OMIM:615637
Xq28 (MECP2) duplication
Inability to walk, Depression, Seizure, Gait ataxia, Dysphagia, Motor stereotypy DECIPHER:45
Potocki-Lupski Syndrome
Oral-pharyngeal dysphagia, Hyperactivity, Seizure, Short stature, Motor stereotypy, EEG abnormality OMIM:610883
Gm2 Gangliosidosis, Ab Variant
Inappropriate behavior, Postnatal growth retardation, Abnormal fear-induced behavior, Seizure, Sh... ORPHA:309246
Intellectual Developmental Disorder, X-Linked 30
Generalized non-motor (absence) seizure, Agitation, Hyperactivity, Seizure, Bilateral tonic-cloni... OMIM:300558
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Frequent temper tantrums, Impulsivity, Short stature, Motor stereotypy, Attention ... OMIM:620141
Hijazi-Reis Syndrome
Postnatal growth retardation, Gait disturbance, Seizure, Motor stereotypy OMIM:301094
Early-Onset Autosomal Dominant Alzheimer Disease
Agitation, Abnormal social behavior, Seizure, Disinhibition, Ataxia, Myoclonus ORPHA:1020
Rett Syndrome, Congenital Variant
Irritability, Tongue thrusting, Seizure, Athetosis, Reduced social reciprocity, Motor stereotypy,... OMIM:613454
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Hyperactivity, Attention deficit hyperactivity disorder, Seizure OMIM:617182
Growth Hormone Deficiency, Isolated Partial
Postnatal growth retardation, Short stature OMIM:615925
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities
Reduced social reciprocity, Bilateral tonic-clonic seizure, Aggressive behavior OMIM:616083
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Focal-onset seizure, Bilateral tonic-clonic seizure with generalized onset, Gait ataxia, Myocloni... OMIM:619092
Angelman Syndrome
Generalized myoclonic seizure, Inability to walk, Tongue thrusting, Broad-based gait, Hyperactivi... ORPHA:72
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Depression, Seizure, Gait disturbance, Bilateral tonic-clonic seizure, Short stature, Motor stere... ORPHA:457240
Parkinsonism-Dystonia 3, Childhood-Onset
Depression, Growth delay, Ataxia, Reduced social reciprocity, Dysphagia, Aggressive behavior OMIM:619738
Short Stature, Developmental Delay, And Congenital Heart Defects
Compulsive behaviors, Proportionate short stature, Motor stereotypy, Attention deficit hyperactiv... OMIM:617044
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Gait imbalance, Tongue thrusting, Broad-based gait, Bilateral tonic-clonic seizure with generaliz... ORPHA:98795
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome
Postnatal growth retardation, Seizure, Motor stereotypy ORPHA:529965
Chromosome 2Q37 Deletion Syndrome
Hyperactivity, Seizure, Stereotypical hand wringing, Short stature, Skin-picking, Motor stereotyp... OMIM:600430
Developmental And Epileptic Encephalopathy 2
Generalized myoclonic seizure, Inability to walk, Hypsarrhythmia, Seizure, Infantile spasms, Gene... OMIM:300672
Optic Atrophy 11
Decreased sensory nerve conduction velocity, Hyperactivity, EEG with focal sharp waves, Athetosis... OMIM:617302
Beck-Fahrner Syndrome
Depression, Seizure, Reduced social reciprocity, Attention deficit hyperactivity disorder, EEG ab... OMIM:618798
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Generalized non-motor (absence) seizure, Inability to walk, Depression, Seizure, Hostility, Tonic... OMIM:300260
Intellectual Developmental Disorder, Autosomal Recessive 13
Hyperactivity, Seizure, Bruxism, Recurrent hand flapping OMIM:613192
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Nocturnal seizures, Bilateral tonic-clonic seizure, Ataxia, Motor tics, Motor stereotypy, Myoclon... OMIM:619725
Rett Syndrome
Agitation, Difficulty walking, Inability to walk, Seizure, Stereotypical hand wringing, Gait dist... ORPHA:778
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Obsessive-compulsive trait, Seizure, Motor stereotypy, Attention deficit hyperactivity disorder, ... OMIM:618825
X-Linked Intellectual Disability, Van Esch Type
Attention deficit hyperactivity disorder, Reduced social reciprocity, Intrauterine growth retarda... ORPHA:163976
Adenylosuccinase Deficiency
Inability to walk, Hyperactivity, Seizure, Gait ataxia, Growth delay, Inappropriate laughter, Myo... OMIM:103050
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Focal-onset seizure, Inability to walk, Interictal epileptiform activity, Seizure, Dysphagia, Mot... OMIM:617802
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Hyperactivity, Short stature, Motor stereotypy, Attention deficit hyperactivity disorder, Bruxism... OMIM:618342
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Irritability, Hyperactivity, Short stature, Motor stereotypy, Aggressive behavior ORPHA:391307
Alazami Syndrome
Postnatal growth retardation, Seizure, Stereotypical hand wringing, Motor stereotypy, Abnormal ea... ORPHA:319671
Pilarowski-Bjornsson Syndrome
Postnatal growth retardation, Seizure, Motor stereotypy OMIM:617682
Inverted Duplicated Chromosome 15 Syndrome
Hyperactivity, Seizure, Growth delay, Motor stereotypy, Self-biting, Aggressive behavior ORPHA:3306
Macrocephaly-Developmental Delay Syndrome
Self-injurious behavior, Seizure, EEG with generalized slow activity, Motor stereotypy ORPHA:397612
Neurodevelopmental Disorder With Language Delay And Variable Cognitive Abnormalities
Attention deficit hyperactivity disorder, Seizure, Motor stereotypy OMIM:620502
Primary Dystonia, Dyt13 Type
Motor stereotypy ORPHA:98807
Cerebral Creatine Deficiency Syndrome 1
Broad-based gait, Seizure, Gait disturbance, Short stature, Reduced social reciprocity, Motor ste... OMIM:300352
Den Hoed-De Boer-Voisin Syndrome
Multifocal epileptiform discharges, Generalized clonic seizure, Agitation, Focal myoclonic seizur... OMIM:619229
Coffin-Siris Syndrome 6
Seizure, Short stature, Motor stereotypy, Attention deficit hyperactivity disorder, Tics OMIM:617808
Metachromatic Leukodystrophy, Late Infantile Form
Tip-toe gait, Decreased nerve conduction velocity, Abnormal social behavior, Emotional lability, ... ORPHA:309256
Chromosome 15Q11.2 Deletion Syndrome
Seizure, Compulsive behaviors, Short stature, Ataxia, Reduced social reciprocity, Motor stereotyp... OMIM:615656
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Seizure, Recurrent hand flapping, Compulsive behaviors, Gait disturbance, Short stature, Ataxia, ... OMIM:300986
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures
Inability to walk, Hyperactivity, Short stature, Self-injurious behavior, Choreoathetosis, Aggres... OMIM:620023
Developmental And Speech Delay Due To Sox5 Deficiency
Seizure, Motor stereotypy, Attention deficit hyperactivity disorder, Self-injurious behavior, Agg... ORPHA:313892
Infantile Neuroaxonal Dystrophy
Hyperactivity, Emotional lability, Seizure, Impulsivity, Gait disturbance, Choking episodes, Abno... ORPHA:35069
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Obsessive-compulsive trait, Generalized non-motor (absence) seizure, Hyperactivity, Low frustrati... ORPHA:363686
Houge-Janssens Syndrome 3
Generalized non-motor (absence) seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, Bil... OMIM:618354
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Attention deficit hyperactivity disorder, Seizure, Aggressive behavior OMIM:301013
Neurodegeneration With Brain Iron Accumulation 2A
Decreased nerve conduction velocity, Seizure, Abnormality of visual evoked potentials, Unsteady g... OMIM:256600
X-Linked Intellectual Disability, Cantagrel Type
Seizure, Motor stereotypy ORPHA:85277
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Inability to walk, Hypsar... ORPHA:457351
Angelman Syndrome
Broad-based gait, Hyperactivity, Seizure, Ataxia, Progressive gait ataxia, EEG abnormality, Parox... OMIM:105830
Intellectual Developmental Disorder, Autosomal Recessive 71
Attention deficit hyperactivity disorder, Seizure, Motor stereotypy OMIM:618504
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Seizure, Inability to walk, Motor stereotypy OMIM:613443
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Agitation, Emotional lability, Seizure, Ataxia, Motor stereotypy ORPHA:927
Cri-Du-Chat Syndrome
Difficulty walking, Hyperactivity, Oppositional defiant disorder, Growth delay, Overfriendliness,... OMIM:123450
White-Sutton Syndrome
Irritability, Hypoglycemic seizures, Hyperactivity, Waddling gait, Tics, Short stature, Abnormali... OMIM:616364
4Q21 Microdeletion Syndrome
Seizure, Growth delay, Motor stereotypy, Intrauterine growth retardation, Self-injurious behavior ORPHA:238750
Snijders Blok-Campeau Syndrome
Broad-based gait, Infantile spasms, Myoclonic seizure, Unsteady gait, Motor stereotypy, Attention... OMIM:618205
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Generalized non-motor (absence) seizure, Seizure, Bilateral tonic-clonic seizure, Short stature, ... OMIM:615802
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Hyperactivity, Seizure, Compulsive behaviors, Ataxia, Motor stereotypy, Aggressive behavior OMIM:618430
Developmental And Epileptic Encephalopathy 64
Inability to walk, Seizure, Motor stereotypy, Self-injurious behavior, Status epilepticus, Bruxism OMIM:618004
5Q14.3 Microdeletion Syndrome
Seizure, Motor stereotypy ORPHA:228384
Intellectual Developmental Disorder, Autosomal Dominant 48
Hyperactivity, Seizure, Intrauterine growth retardation, Motor stereotypy OMIM:617751
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hyperactivity, Seizure, Generalized-onset seizure, Status epilepticus, Self-biting OMIM:618314
Blepharophimosis-Impaired Intellectual Development Syndrome
Low frustration tolerance, Seizure, Motor stereotypy, Overfriendliness, Attention deficit hyperac... OMIM:619293
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Hyperactivity, Low frustration tolerance, Seizure, Gait ataxia, Motor stereotypy, Self-mutilation OMIM:300486
47,Xyy Syndrome
Hyperactivity, Seizure, Impulsivity, Reduced social reciprocity, Attention deficit hyperactivity ... ORPHA:8
Early Infantile Epileptic Encephalopathy
Generalized non-motor (absence) seizure, Generalized clonic seizure, Focal-onset seizure, EEG wit... ORPHA:1934
Ritscher-Schinzel Syndrome 4
Focal-onset seizure, Athetosis, Impulsivity, Bilateral tonic-clonic seizure, Short stature, Ataxi... OMIM:619435
48,Xxyy Syndrome
Depression, Seizure, Ataxia, Motor stereotypy, Attention deficit hyperactivity disorder ORPHA:10
Metachromatic Leukodystrophy, Juvenile Form
Decreased nerve conduction velocity, Abnormal social behavior, Emotional lability, Seizure, Abnor... ORPHA:309263
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Irritability, Hair-pulling, Hyperactivity, Hypsarrhythmia, Infantile spasms, Bilateral tonic-clon... ORPHA:447997
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Spastic gait, Scissor gait, Truncal ataxia, Growth delay, Motor stereotypy, Attention deficit hyp... OMIM:619121
Proximal 16P11.2 Microdeletion Syndrome
Seizure, Reduced social reciprocity, Motor stereotypy, Attention deficit hyperactivity disorder, ... ORPHA:261197
Intellectual Developmental Disorder, Autosomal Dominant 52
Obsessive-compulsive trait, Irritability, Hyperactivity, Seizure, Motor stereotypy, Pica OMIM:617796
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Difficulty walking, Broad-based gait, Generalized-onset seizure, Gait ataxia, Motor stereotypy OMIM:617807
22Q11.2 Duplication Syndrome
Seizure, Compulsive behaviors, Growth delay, Motor stereotypy, Attention deficit hyperactivity di... ORPHA:1727
Intellectual Developmental Disorder, Autosomal Dominant 34
Bruxism, Bilateral tonic-clonic seizure, Motor stereotypy, Broad-based gait OMIM:616351
Smith-Magenis Syndrome
Delayed puberty, Seizure, Gait disturbance, Short stature, Motor stereotypy, Attention deficit hy... ORPHA:819
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Postnatal growth retardation, Focal-onset seizure, Inability to walk, Delayed early-childhood soc... ORPHA:300570
Multiple Mitochondrial Dysfunctions Syndrome 7
Irritability, Agitation, Focal-onset seizure, Hyperactivity, Hypsarrhythmia, Multifocal seizures,... OMIM:620423
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome
Infantile spasms, Myoclonic seizure, Dysphagia, Motor stereotypy ORPHA:572013
Coffin-Siris Syndrome 7
Hyperactivity, Compulsive behaviors, Short stature, Motor stereotypy, Severe temper tantrums OMIM:618027
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Hyperactivity, Low frustration tolerance, Emotional lability, Seizure, Compulsive behaviors, Redu... OMIM:309520
Insulin-Like Growth Factor I Deficiency
Hyperactivity, Postnatal growth retardation, Intrauterine growth retardation, Short stature OMIM:608747
Metachromatic Leukodystrophy, Adult Form
Decreased nerve conduction velocity, Difficulty walking, Abnormal social behavior, Depression, Em... ORPHA:309271
Developmental And Epileptic Encephalopathy 100
Typical absence seizure, Focal-onset seizure, Myoclonic status epilepticus, Seizure, Infantile sp... OMIM:619777
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features
Gait ataxia, Motor stereotypy, Overfriendliness OMIM:616579
X-Linked Creatine Transporter Deficiency
Hyperactivity, Seizure, Athetosis, Short stature, Ataxia, Self-mutilation ORPHA:52503
Megalocornea-Intellectual Disability Syndrome
Seizure, Short stature, Ataxia, Motor stereotypy, EEG abnormality ORPHA:2479
Argininemia
Spastic gait, Irritability, Postnatal growth retardation, Anorexia, Hyperactivity, Seizure OMIM:207800
White-Sutton Syndrome
Hyperactivity, Seizure, Compulsive behaviors, Short stature, Febrile seizure (within the age rang... ORPHA:468678
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Seizure, Compulsive behaviors, Dysphagia, Motor stereotypy, Attention deficit hyperactivity disor... OMIM:617061
Rauch-Steindl Syndrome
Postnatal growth retardation, Hyperactivity, Short stature, Motor stereotypy, Intrauterine growth... OMIM:619695
Radio-Tartaglia Syndrome
Gait imbalance, Seizure, Impulsivity, Ataxia, Dysphagia, Motor stereotypy, Attention deficit hype... OMIM:619312
Developmental And Epileptic Encephalopathy 49
Hyperactivity, Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure, Myoclonus, EEG a... OMIM:617281
Phelan-Mcdermid Syndrome
Tongue thrusting, Broad-based gait, Seizure, Unsteady gait, Reduced social reciprocity, Motor ste... OMIM:606232
Dihydropyrimidine Dehydrogenase Deficiency
Irritability, Inability to walk, Abnormal social behavior, Focal motor seizure, Seizure, Febrile ... ORPHA:1675
48,Xxxy Syndrome
Irritability, Abnormal social behavior, Seizure, Abnormal aggressive, impulsive or violent behavi... ORPHA:96263
Van Esch-O'Driscoll Syndrome
Seizure, Impulsivity, Excessive shyness, Short stature, Growth delay, Motor stereotypy, Attention... OMIM:301030
Chromosome 5P13 Duplication Syndrome
Self-injurious behavior, Seizure, Compulsive behaviors, Motor stereotypy OMIM:613174
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Delayed puberty, Focal-onset seizure, Hyperactivity, Impulsivity, Ataxia, Intrauterine growth ret... OMIM:619475
Wiedemann-Steiner Syndrome
Postnatal growth retardation, Rhizomelia, Hyperactivity, Low frustration tolerance, Seizure, Shor... ORPHA:319182
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Head-banging, Seizure, Frequent temper tantrums, Motor stereotypy, Attention deficit hyperactivit... OMIM:619103
Congenital Disorder Of Glycosylation, Type Iia
Postnatal growth retardation, Seizure, Stereotypical hand wringing, Short stature, Unsteady gait,... OMIM:212066
Intellectual Developmental Disorder, Autosomal Dominant 38
Hair-pulling, Infantile spasms, Ataxia, Motor stereotypy, Self-injurious behavior, Generalized to... OMIM:616393
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Attention deficit hyperactivity disorder, Seizure, Febrile seizure (within the age range of 3 mon... OMIM:620073
Tuberous Sclerosis Complex
Epileptic spasm, Focal-onset seizure, Abnormal social behavior, Hyperactivity, Depression, Seizur... ORPHA:805
Foxg1 Syndrome Due To 14Q12 Microdeletion
Growth delay, Seizure, Motor stereotypy ORPHA:261144
3P25.3 Microdeletion Syndrome
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Bilateral tonic-clonic se... ORPHA:435638
Prader-Willi Syndrome Due To Translocation
Abnormal temper tantrums, Abnormal social behavior, Head-banging, Seizure, Compulsive behaviors, ... ORPHA:177907
Mend Syndrome
Abnormal social behavior, Hyperactivity, Seizure, Abnormal auditory evoked potentials, Short stat... ORPHA:401973
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Seizure, Motor stereotypy ORPHA:500159
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Seizure, Intrauterine growth retardation, Motor stereotypy, Attention deficit hyperactivity disor... OMIM:619005
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Self-injurious behavior, Motor stereotypy, Impulsivity, Aggressive behavior OMIM:618914
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Abnormal temper tantrums, Low frustration tolerance, Seizure, Unsteady gait, Ataxia, Motor stereo... ORPHA:457279
Fg Syndrome Type 1
Abnormal social behavior, Broad-based gait, Seizure, Compulsive behaviors, Short stature, Attenti... ORPHA:93932
Neurodegeneration With Brain Iron Accumulation 2B
Hyperactivity, Emotional lability, Dysdiadochokinesis, Seizure, Impulsivity, Gait ataxia, Dysphag... OMIM:610217
2Q37 Microdeletion Syndrome
Seizure, Compulsive behaviors, Short stature, Motor stereotypy, Attention deficit hyperactivity d... ORPHA:1001
Cystinosis
Polydipsia, Delayed puberty, Gait disturbance, Short stature, Motor stereotypy ORPHA:213
Neurodevelopmental Disorder With Impaired Language, Behavioral Abnormalities, And Dysmorphic Facies
Seizure, Compulsive behaviors, Short stature, Motor stereotypy, Attention deficit hyperactivity d... OMIM:620494
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
EEG with spike-wave complexes, EEG with focal sharp waves, EEG with series of focal spikes, Ataxi... ORPHA:522077
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Seizure, Compulsive behaviors, Gait ataxia, Motor stereotypy, Attention deficit hyperactivity dis... ORPHA:476126
7Q11.23 Microduplication Syndrome
Hyperactivity, Seizure, Polyphagia, Short stature, Growth delay, Collectionism, Reduced social re... ORPHA:96121
Transketolase Deficiency
Compulsive behaviors, Proportionate short stature, Motor stereotypy, Attention deficit hyperactiv... ORPHA:488618
Nmda Receptor Encephalitis
Agitation, Focal-onset seizure, EEG with temporal sharp slow waves, Depression, Seizure, Generali... ORPHA:217253
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Hyperactivity, Depression, Seizure, Growth delay, Ataxia, Choreoathetosis, Aggressive behavior OMIM:612716
Choreoacanthocytosis
Self-injurious behavior, Irritability, Socially inappropriate behavior, Hair-pulling, Falls, Hype... ORPHA:2388
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Bilateral tonic-clonic seizure, Growth delay, Febrile seizure (within the age range of 3 months t... ORPHA:496641
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Head-banging, Seizure, Frequent temper tantrums, Short stature, Motor stereotypy, Attention defic... OMIM:619575
Microcephaly 29, Primary, Autosomal Recessive
Hyperactivity, Emotional lability, Ataxia, Seizure OMIM:620047
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Focal myoclonic seizure, Abnormal social behavior, Nonprogressive cerebellar ataxia, Ataxia, Unst... ORPHA:314647
Niemann-Pick Disease Type C
Focal-onset seizure, Abnormal social behavior, Depression, Low frustration tolerance, Seizure, Ge... ORPHA:646
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Abnormal fear-induced behavior, Hyperactivity, Emotional lability, Seizure, Compulsive behaviors,... ORPHA:353281
Helsmoortel-Van Der Aa Syndrome
Irritability, Typical absence seizure, Hyperactivity, Seizure, Polyphagia, Compulsive behaviors, ... OMIM:615873
Kleefstra Syndrome 1
Seizure, Compulsive behaviors, Motor stereotypy, Aggressive behavior OMIM:610253
Bainbridge-Ropers Syndrome
Inability to walk, Seizure, Recurrent hand flapping, Growth delay, Motor stereotypy, Intrauterine... OMIM:615485
Kleefstra Syndrome
Seizure, Short stature, Motor stereotypy, Self-injurious behavior, Self-mutilation, Aggressive be... ORPHA:261494
Koolen-De Vries Syndrome Due To A Point Mutation
Postnatal growth retardation, Focal-onset seizure, Abnormal social behavior, Interictal epileptif... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Postnatal growth retardation, Focal-onset seizure, Abnormal social behavior, Interictal epileptif... ORPHA:363958
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
EEG with parietal focal spikes, Seizure, EEG with central focal spikes, EEG with occipital focal ... OMIM:301066
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Focal-onset seizure, Hypsarrhythmia, Seizure, Infantile spasms, Bilateral tonic-clonic seizure, G... OMIM:301044
Hydroxykynureninuria
Motor stereotypy ORPHA:79155
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Postnatal growth retardation, Seizure, Bilateral tonic-clonic seizure, Growth delay, Motor stereo... OMIM:301040
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Broad-based gait, Hyperactivity, Seizure, Bilateral tonic-clonic seizure, Gait ataxia, Short stat... OMIM:614756
Mucopolysaccharidosis Type 2
Abnormal temper tantrums, Decreased nerve conduction velocity, Hyperactivity, Seizure, Impulsivit... ORPHA:580
Niemann-Pick Disease, Type C2
Seizure, Ataxia, Dysphagia, Motor stereotypy OMIM:607625
Kinsship Syndrome
Generalized non-motor (absence) seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, Sho... OMIM:619297
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Generalized non-motor (absence) seizure, Hair-pulling, Nail-biting, Broad-based gait, Emotional l... OMIM:620330
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Hyperactivity, Compulsive behaviors, Frequent temper tantrums, Bilateral tonic-clonic seizure, To... OMIM:619512
Joubert Syndrome 6
Ataxia, Motor stereotypy OMIM:610688
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Simple febrile seizure, Seizure, Gait disturbance, Motor stereotypy, Attention deficit hyperactiv... ORPHA:464311
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Postnatal growth retardation, Abnormal fear-induced behavior, Hyperactivity, Emotional lability, ... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Postnatal growth retardation, Abnormal fear-induced behavior, Hyperactivity, Emotional lability, ... ORPHA:353277
Pitt-Hopkins Syndrome
Self-injurious behavior, Seizure, Motor stereotypy, Gait ataxia OMIM:610954
Dyrk1A-Related Intellectual Disability Syndrome
Hyperactivity, Seizure, Gait disturbance, Short stature, Febrile seizure (within the age range of... ORPHA:464306
Hypotonia, Ataxia, And Delayed Development Syndrome
Broad-based gait, Truncal ataxia, Seizure, Gait ataxia, Short stature, Ataxia, Dysphagia, Motor s... OMIM:617330
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Focal myoclonic seizure, Inability to walk, Seizure, Generalized-onset seizure, Motor stereotypy,... ORPHA:508533
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Generalized non-motor (absence) seizure, Broad-based gait, Seizure, Bilateral tonic-clonic seizur... ORPHA:513456
Oculocerebrorenal Syndrome Of Lowe
Delayed puberty, Depression, Seizure, Compulsive behaviors, Short stature, Motor stereotypy, Atte... ORPHA:534
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Seizure, Severe short stature, Motor stereotypy, Intrauterine growth retardation, Self-injurious ... ORPHA:468631
Norrie Disease
Delayed puberty, Irritability, Seizure, Motor stereotypy, Attention deficit hyperactivity disorde... ORPHA:649
Ogden Syndrome
Postnatal growth retardation, Irritability, Generalized-onset seizure, Bilateral tonic-clonic sei... OMIM:300855
1P36 Deletion Syndrome
Seizure, Polyphagia, Gait disturbance, Short stature, Dysphagia, Motor stereotypy, Self-injurious... ORPHA:1606
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Hyperactivity, Seizure, Motor stereotypy, Short stature OMIM:309590
Wolf-Hirschhorn Syndrome
Severe postnatal growth retardation, Seizure, Short stature, Growth delay, Motor stereotypy, Intr... OMIM:194190
Arboleda-Tham Syndrome
Gait imbalance, Seizure, Growth delay, Dysphagia, Motor stereotypy, Intrauterine growth retardation OMIM:616268
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Loss of ambulation, Seizure, Unsteady gait, Motor stereotypy OMIM:616682
Lowe Oculocerebrorenal Syndrome
Postnatal growth retardation, Seizure, Short stature, Motor stereotypy, Aggressive behavior OMIM:309000
Histidinemia
Hyperactivity ORPHA:2157
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Difficulty walking, Motor stereotypy OMIM:618653
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Short stature, Motor stereotypy ORPHA:508498
Mowat-Wilson Syndrome
Focal-onset seizure, EEG with spike-wave complexes, Inability to walk, Broad-based gait, Seizure,... ORPHA:2152
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Seizure, Short stature, Growth delay, Dysphagia, Motor stereotypy, Attention deficit hyperactivit... OMIM:619522
Primrose Syndrome
Delayed puberty, Seizure, Tics, Short stature, Ataxia, Motor stereotypy, Restlessness, Attention ... OMIM:259050
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Generalized non-motor (absence) seizure, Seizure, Bilateral tonic-clonic seizure, Motor stereotyp... OMIM:612474
Williams Syndrome
Gait imbalance, Abnormal social behavior, Depression, Compulsive behaviors, Gait disturbance, Sho... ORPHA:904
Coffin-Siris Syndrome 12
Short stature, Seizure, Motor stereotypy OMIM:619325
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Focal-onset seizure, Inability to walk, Broad-based gait, Seizure, Short stature, Atypical absenc... ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Focal-onset seizure, Inability to walk, Broad-based gait, Seizure, Short stature, Atypical absenc... 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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