banner
Genes Phenotypes Help, News, Blog

Gene: Kif3b MGI:107688

Log in to follow

Gene Summary

Name:
kinesin family member 3B
Synonyms:
N/A

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.

Phenotype System Allele Zyg Sex Life Stage P Value
increased bone mineral content Kif3btm1b(EUCOMM)Wtsi HET Early adult 9.12×10-05
preweaning lethality, complete penetrance Kif3btm1b(EUCOMM)Wtsi HOM   Early adult 0.00
increased grip strength Kif3btm1b(EUCOMM)Wtsi HET Early adult 6.62×10-09
prenatal lethality prior to heart atrial septation Kif3btm1b(EUCOMM)Wtsi HOM   E15.5 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Blood vessel N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote 100% (2 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 100% (2 of 2)
Cerebral cortex N/A heterozygote 100% (2 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 100% (2 of 2)
Hypothalamus N/A heterozygote 100% (2 of 2)
Kidney N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 100% (2 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 100% (2 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle tissue N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 100% (2 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 100% (2 of 2)
Testis N/A heterozygote 50% (1 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
blood vessel
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
oesophagus
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyer's patch
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle tissue
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
uterus 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

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 Dorso Ventral

14 Images

View images
X-ray

XRay Images Forepaw

14 Images

View images
X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

View images
X-ray

XRay Images Whole Body Lateral Orientation

14 Images

View images
DSS Histology

Images

8 Images

View images
X-ray

XRay Images Skull Lateral Orientation

14 Images

View images
Anti-nuclear antibody assay

Images

6 Images

View images
Ear epidermis immunophenotyping

Images

12 Images

View images
Legacy Phenotype Associated Images
Kif3btm1b(EUCOMM)Wtsi
HET, Male, WTSI
Kif3btm1b(EUCOMM)Wtsi
HET, Female, WTSI
Kif3btm1b(EUCOMM)Wtsi
HET, Male, WTSI
Kif3btm1b(EUCOMM)Wtsi
HET, Male, WTSI
Kif3btm1b(EUCOMM)Wtsi
HET, Male, WTSI

View all 100 images

Kif3btm1b(EUCOMM)Wtsi
TS20 heart, HET, Male, WTSI
Kif3btm1b(EUCOMM)Wtsi
TS20 heart, HET, Male, WTSI
Kif3btm1b(EUCOMM)Wtsi
TS20 chorioallantoic placenta, HET, Male, WTSI

Human diseases caused by Kif3b mutations

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

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

The table below shows human diseases associated to Kif3b by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Retinitis Pigmentosa 89
Bicuspid aortic valve OMIM:618955

The table below shows human diseases predicted to be associated to Kif3b by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect OMIM:615041
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Short attention span, Mild malformation of cortical development, Dysplastic corpus callosum, Abno... ORPHA:500166
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
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Behavioral Variant Of Frontotemporal Dementia
Restrictive behavior, Collectionism, Restlessness, Aggressive behavior, Frontotemporal dementia, ... ORPHA:275864
Autism, Susceptibility To, 8
Restrictive behavior, Abnormal repetitive mannerisms, Impaired ability to form peer relationships... OMIM:607373
Autism
Restrictive behavior, Abnormal repetitive mannerisms, Impaired ability to form peer relationships... OMIM:209850
Craniofacial Conodysplasia
Spinal cord compression, Hydrocephalus ORPHA:85168
Ossification Of The Posterior Longitudinal Ligament Of Spine
Spinal cord compression, Myelopathy OMIM:602475
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Intellectual Developmental Disorder With Autism And Speech Delay
Pachygyria, Abnormal repetitive mannerisms, Impaired social interactions OMIM:606053
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
Emotional lability, Abnormal repetitive mannerisms, Agitation, Aggressive behavior OMIM:617171
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:617787
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Microcephaly, Cortical dysplasia, Attention deficit hyperactivity disorder, Abnormal repetitive m... OMIM:618709
Chromosome 15Q11-Q13 Duplication Syndrome
Restrictive behavior, Impaired ability to form peer relationships, Impaired social interactions, ... OMIM:608636
Pick Disease Of Brain
Abnormal repetitive mannerisms, Frontotemporal dementia, Irritability, Disinhibition, Inappropria... OMIM:172700
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Ventricular septal defect, Hypoplastic left heart, Anencephaly, Spina bifida ORPHA:2476
Glycosylphosphatidylinositol Biosynthesis Defect 17
Dysplastic corpus callosum, Primary microcephaly, Aggressive behavior, Overfriendliness OMIM:618010
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Frontotemporal dementia, Disinhibition, Dysphagia, Emotional labil... OMIM:612069
Childhood Disintegrative Disorder
Social and occupational deterioration, Dementia, Abnormal emotion, Progressive language deteriora... ORPHA:168782
Thoraco-Abdominal Enteric Duplication
Diastomatomyelia, Meningocele, Abnormal tricuspid valve morphology, Dextrocardia ORPHA:1759
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Microcephaly, Aggressive behavior, Abnormal fear-induced behavior, Cortical dysplasia, Pseudobulb... ORPHA:208441
Autism, Susceptibility To, X-Linked 3
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:300496
Autism, Susceptibility To, X-Linked 1
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:300425
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Foxg1 Syndrome
Agenesis of corpus callosum, Progressive microcephaly, Hypoplasia of the corpus callosum, Bruxism... ORPHA:561854
N-Acetylaspartate Deficiency
Short attention span, Microcephaly, Secondary microcephaly, Abnormal repetitive mannerisms, Self-... OMIM:614063
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Microcephaly, Cortical dysplasia, Self-injurious behavior, Secondary microcephaly, Hypoplasia of ... OMIM:615282
Frontal Encephalocele
Encephalocele, Hydrocephalus, Spina bifida ORPHA:1931
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Self-injurious behavior, Impaired social interactions, Hypoplasia of the corpus callosum, Abnorma... OMIM:617820
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity, Abnormal social behavior ORPHA:436151
Chudley-Mccullough Syndrome
Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Polymicrogyria, Hypoplasia o... OMIM:604213
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Hypoplasia of the corpus callosum, Dysphagia, Recurrent hand flapping, Abnormal repetitive manner... OMIM:617862
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Spina bifida, Mitral valve prolapse OMIM:211960
Pandas
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... ORPHA:66624
Smith-Magenis syndrome
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation DECIPHER:8
Joubert Syndrome 15
Exencephaly OMIM:614464
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Abnormal repetitive mannerisms OMIM:300271
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Restlessness, Aggressive behavior, Frontotemporal dementia, Inappropriate behavior, Disinhibition... OMIM:600795
Stxbp1-Related Encephalopathy
Dysplastic corpus callosum, Hyperactivity, Cerebral white matter atrophy ORPHA:599373
Developmental And Epileptic Encephalopathy 107
Abnormal repetitive mannerisms, Progressive microcephaly, Microcephaly OMIM:620033
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Aggressive behavior, Self-injurious behavior, Compulsive behaviors, Attention deficit hyperactivi... OMIM:613670
Acalvaria
Hydrocephalus, Holoprosencephaly, Spina bifida ORPHA:945
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities
Reduced cerebral white matter volume, Dysplastic corpus callosum, Leukoencephalopathy, Secondary ... OMIM:620317
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Microcephaly, Aggressive behavior, Inappropriate laughter, Bruxism, Abnormal repetitive mannerisms OMIM:619150
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Irritability, Secondary microcephaly, Abnormal repetitive mannerisms, Cerebral atrophy OMIM:617393
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Aggressive behavior, Microcephaly, Simplified gyral pattern, Periventricular white... OMIM:619470
Spastic Paraplegia 45, Autosomal Recessive
Dysplastic corpus callosum, Hypoplasia of the corpus callosum OMIM:613162
Developmental And Epileptic Encephalopathy 58
Abnormal repetitive mannerisms, Secondary microcephaly OMIM:617830
11Q22.2Q22.3 Microdeletion Syndrome
Short attention span, Attention deficit hyperactivity disorder, Hypoplasia of the corpus callosum... ORPHA:444002
Neural Tube Defects, Susceptibility To
Myelomeningocele, Spina bifida occulta, Anencephaly, Hydrocephalus OMIM:182940
Intellectual Developmental Disorder, Autosomal Recessive 58
Self-injurious behavior, Abnormal repetitive mannerisms, Pica, Aggressive behavior OMIM:617270
Caudal Duplication
Cryptorchidism, Myelomeningocele, Spinal cord lesion, Spina bifida ORPHA:1756
Hsd10 Disease
Short attention span, Microcephaly, Frontotemporal cerebral atrophy, Dysphagia, Abnormal social b... ORPHA:391417
Kleine-Levin Syndrome
Confusion, Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexualit... ORPHA:33543
Juvenile Neuronal Ceroid Lipofuscinosis
Cerebral atrophy, Depression, Abnormal cerebral white matter morphology, Dementia, Progressive la... ORPHA:79264
Brunet-Wagner Neurodevelopmental Syndrome
Self-injurious behavior, Abnormal repetitive mannerisms, Thin corpus callosum, Cerebral atrophy OMIM:619690
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Dysplastic corpus callosum, Microcephaly OMIM:618276
Pontocerebellar Hypoplasia, Type 11
Microcephaly, Abnormal repetitive mannerisms, Self-injurious behavior, Attention deficit hyperact... OMIM:617695
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:620065
Hemihyperplasia, Isolated
Myelomeningocele OMIM:235000
Aminopterin/Methotrexate Embryofetopathy
Encephalocele, Ventricular septal defect, Situs inversus totalis, Hydrocephalus, Meningocele, Ane... ORPHA:1908
Severe Intellectual Disability And Progressive Spastic Paraplegia
Microcephaly, Shyness, Hypoplasia of the corpus callosum, Abnormal periventricular white matter m... ORPHA:280763
Chiari Malformation Type Ii
Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Syringomyelia OMIM:207950
Meckel Syndrome, Type 4
Encephalocele, Ventricular septal defect, Hydrocephalus, Meningocele, Anencephaly, Atrial septal ... OMIM:611134
Craniorachischisis
Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism ORPHA:63260
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Neurofibrillary tangles, Repetitive compulsive behavior, Hypersexuality, Frontotemporal dementia,... OMIM:607485
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Short attention span, Hyperactivity, Aggressive behavior, Shyness, Depression, Irritability, Self... ORPHA:449291
Hyperprolinemia, Type I
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior OMIM:239500
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, Microcephaly, Self-injurious behavior, Bruxism, Abnormal repetitive mannerisms, Pa... OMIM:618718
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
Short attention span, Hyperactivity, Aggressive behavior, Dysphoria, Depression, Secondary microc... OMIM:620242
Chromosome 3Q29 Deletion Syndrome
Hyperactivity, Microcephaly, Abnormal repetitive mannerisms, Aggressive behavior OMIM:609425
Nevus Comedonicus Syndrome
Spina bifida occulta, Spina bifida ORPHA:64754
Schisis Association
Encephalocele, Anencephaly, Spina bifida ORPHA:63862
Subependymal Nodular Heterotopia
Occipital encephalocele, Myelomeningocele, Meningocele, Nasofrontal encephalocele ORPHA:101030
Mucolipidosis Iv
Dysplastic corpus callosum, Progressive neurologic deterioration, Cerebral dysmyelination, Microc... OMIM:252650
Hereditary Geniospasm
Abnormal social behavior ORPHA:53372
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Bicuspid aortic valve, Spina bifida, Patent ductus arteriosus, Anomalous pulmonary venous return,... ORPHA:1120
Autism, Susceptibility To, X-Linked 2
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:300495
Autism Spectrum Disorder Due To Auts2 Deficiency
Hyperactivity, Microcephaly, Repetitive compulsive behavior, Compulsive behaviors, Attention defi... ORPHA:352490
Isolated Klippel-Feil Syndrome
Ventricular septal defect, Spina bifida ORPHA:2345
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Aggressive behavior, Cortical dysplasia, Progressive language deterioration, Atten... OMIM:610042
Lissencephaly Due To Tuba1A Mutation
Agyria, Microcephaly, Hypoplastic anterior limbs of the internal capsule, Dysplastic corpus callo... ORPHA:171680
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Hyperactivity, Aggressive behavior, Microcephaly, Irritability, Abnormal cerebral white matter mo... ORPHA:391307
Xq28 (MECP2) duplication
Microcephaly, Depression, Hypoplasia of the corpus callosum, Dysphagia, Abnormal repetitive manne... DECIPHER:45
Isolated Posterior Meningocele
Tethered cord, Hydrocephalus, Meningocele, Lipomyelomeningocele, Neural tube defect, Hydromyelia,... ORPHA:268810
Early-Onset Autosomal Dominant Alzheimer Disease
Confusion, Neurofibrillary tangles, Dementia, Agitation, Disinhibition, Semantic dementia, Memory... ORPHA:1020
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Short attention span, Partial agenesis of the corpus callosum, Delayed early-childhood social mil... ORPHA:300570
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Short attention span, Impulsivity, Aggressive behavior, Microcephaly, Tongue thrusting, Thin corp... OMIM:619580
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Confusion, Microcephaly, Agitation, Cognitive impairment, Emotional lability, Abnormal repetitive... ORPHA:927
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Short attention span, Hyperactivity, Aggressive behavior, Microcephaly, Attention deficit hyperac... OMIM:618342
Developmental And Epileptic Encephalopathy 30
Abnormal repetitive mannerisms OMIM:616341
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Microcephaly, Abnormal repetitive mannerisms, Aggressive behavior OMIM:615541
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors, ... ORPHA:101039
Lopes-Maciel-Rodan Syndrome
Caudate atrophy, Bruxism, Cerebral atrophy, Agitation, Dysphagia, Abnormal repetitive mannerisms OMIM:617435
Late Infantile Neuronal Ceroid Lipofuscinosis
Hyperactivity, Aggressive behavior, Corpus callosum atrophy, Cerebral atrophy, Motor deterioratio... ORPHA:168491
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Microcephaly OMIM:618906
Christianson Syndrome
Microcephaly, Aplasia/Hypoplasia of the corpus callosum, Inappropriate laughter, Dysphagia, Abnor... ORPHA:85278
Bilateral Generalized Polymicrogyria
Oral-pharyngeal dysphagia, Microcephaly, Diffuse white matter abnormalities, Self-injurious behav... ORPHA:208447
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Abnormal cerebral white matter morphology, Abnormal periventricular white matter morphology, Abno... OMIM:613443
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Hyperactivity, Globus pallidus calcification, Aggressive behavior, Attention deficit hyperactivit... OMIM:620292
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Impulsivity, Aggressive behavior, Microcephaly, Attention deficit hyperactivity di... OMIM:620141
Acropectorovertebral Dysplasia
Spina bifida ORPHA:957
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Colpocephaly, Polymicrogyria, Agenesis of corpus callosum ORPHA:250972
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Cerebral atrophy, Inappropriate behavior, Cognitive impairment, P... ORPHA:309246
Sirenomelia
Spina bifida, Sirenomelia ORPHA:3169
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Cerebral atrophy, Self-injurious behavior, Progressive microcephaly, Compulsive behaviors, Abnorm... OMIM:618917
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, Irritability, Abnor... ORPHA:3077
Wildervanck Syndrome
Meningocele ORPHA:3456
Autism, Susceptibility To, 3
Restrictive behavior, Abnormal repetitive mannerisms, Impaired ability to form peer relationships... OMIM:608049
Intellectual Developmental Disorder, Autosomal Dominant 7
Hyperactivity, Microcephaly, Inappropriate laughter, Abnormal repetitive mannerisms, Cerebral cor... OMIM:614104
Meckel Syndrome, Type 2
Encephalocele, Intrauterine growth retardation, Meningocele, Anencephaly OMIM:603194
Combined Oxidative Phosphorylation Deficiency 54
Memory impairment, Dysplastic corpus callosum, Secondary microcephaly, Periventricular white matt... OMIM:619737
Humero-Radial Synostosis
Meningocele ORPHA:3265
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Microcephaly, Focal polymicrogyria, Dysplastic corpus callosum, Partial agenesis of the corpus ca... OMIM:619103
Baker-Gordon Syndrome
Self-injurious behavior, Abnormal repetitive mannerisms OMIM:618218
Sacral Defect With Anterior Meningocele
Myeloschisis, Tethered cord, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract, Hy... OMIM:600145
Primary Dystonia, Dyt13 Type
Abnormal repetitive mannerisms ORPHA:98807
Muscle-Eye-Brain Disease
Hydrocephalus, Meningocele, Holoprosencephaly ORPHA:588
Shukla-Vernon Syndrome
Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Impulsivity, Aggressive... OMIM:301029
2Q23.1 Microdeletion Syndrome
Hyperactivity, Microcephaly, Abnormal repetitive mannerisms, Self-injurious behavior, Polyphagia,... ORPHA:228402
Czeizel-Losonci Syndrome
Dextrocardia, Spina bifida, Myelomeningocele, Hydrocephalus, Spina bifida occulta ORPHA:2437
Pontocerebellar Hypoplasia Type 2
Abnormal cortical gyration, Oral-pharyngeal dysphagia, Dysplastic corpus callosum, Hypoplasia of ... ORPHA:2524
Coffin-Siris Syndrome 6
Abnormal repetitive mannerisms, Periventricular leukomalacia, Tics, Attention deficit hyperactivi... OMIM:617808
Choreoacanthocytosis
Caudate atrophy, Compulsive behaviors, Small basal ganglia, Self-mutilation of tongue and lips du... ORPHA:2388
Short Stature, Developmental Delay, And Congenital Heart Defects
Self-injurious behavior, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms... OMIM:617044
Triploidy
Cryptorchidism, Hydrocephalus, Meningocele, Abnormal cardiac septum morphology, Holoprosencephaly... ORPHA:3376
Rett Syndrome, Congenital Variant
Tongue thrusting, Simplified gyral pattern, Irritability, Hypoplasia of the corpus callosum, Brux... OMIM:613454
Lamb-Shaffer Syndrome
Hyperactivity, Microcephaly, Abnormal temper tantrums, Abnormal social behavior, Abnormal repetit... ORPHA:530983
Blepharophimosis-Impaired Intellectual Development Syndrome
Low frustration tolerance, Attention deficit hyperactivity disorder, Abnormal repetitive manneris... OMIM:619293
Intellectual Developmental Disorder, Autosomal Dominant 48
Hyperactivity, Microcephaly, Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Pol... OMIM:617751
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Obsessive-compulsive trait, Abnormal repetitive mannerisms, Attention deficit hyperactivity disor... OMIM:618825
X-Linked Intellectual Disability, Cantagrel Type
Abnormal repetitive mannerisms, Cerebral cortical atrophy, Hypoplasia of the corpus callosum ORPHA:85277
Lateral Meningocele Syndrome
Tethered cord, Bicuspid aortic valve, Ventricular septal defect, Cryptorchidism, Patent ductus ar... OMIM:130720
Galloway-Mowat Syndrome 6
Abnormal repetitive mannerisms, Paroxysmal bursts of laughter, Microcephaly OMIM:618347
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Microcephaly, Abnormal repetitive mannerisms, Self-mutilation, Depression ORPHA:457240
Neurocutaneous Melanocytosis
Meningocele, Syringomyelia ORPHA:2481
4Q21 Microdeletion Syndrome
Self-injurious behavior, Agenesis of corpus callosum, Abnormal repetitive mannerisms ORPHA:238750
Anophthalmia Plus Syndrome
Spina bifida ORPHA:1104
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Abnormal spinal cord morphology, Hydrocephalus ORPHA:99947
Childhood Absence Epilepsy
Abnormal social behavior, Punding, Attention deficit hyperactivity disorder, Depression ORPHA:64280
Cerebrocostomandibular Syndrome
Ventricular septal defect, Spina bifida, Myelomeningocele, Meningocele, Hydranencephaly, Intraute... ORPHA:1393
Camptodactyly Syndrome, Guadalajara Type 1
Intrauterine growth retardation, Spina bifida ORPHA:1327
Obesity, Hyperphagia, And Developmental Delay
Abnormal repetitive mannerisms, Polyphagia OMIM:613886
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Microcephaly, Repetitive compulsive behavior, Dysphagia, Depression, Hostility, Bruxism, Abnormal... OMIM:300260
Dentici-Novelli Neurodevelopmental Syndrome
Thin corpus callosum, Abnormal repetitive mannerisms, Simplified gyral pattern, Microcephaly OMIM:619877
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities
Dysplastic corpus callosum, Microcephaly, Simplified gyral pattern, Dysphagia OMIM:620001
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3
Dysplastic corpus callosum, Cerebral atrophy, Hypoplasia of the corpus callosum, Abnormal periven... OMIM:616900
Developmental And Speech Delay Due To Sox5 Deficiency
Self-injurious behavior, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder... ORPHA:313892
Autosomal Recessive Spondylocostal Dysostosis
Cryptorchidism, Meningocele, Anomalous pulmonary venous return, Umbilical hernia, Spina bifida oc... ORPHA:2311
Cri-Du-Chat Syndrome
Short attention span, Hyperactivity, Aggressive behavior, Microcephaly, Abnormal repetitive manne... OMIM:123450
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Impulsivity, Aggressive behavior, Self-injurious behavior, Lateral ventricle dilatation, Hypoplas... OMIM:618914
Intellectual Developmental Disorder, Autosomal Recessive 41
Self-injurious behavior, Abnormal repetitive mannerisms OMIM:615637
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Microcephaly, Attention deficit hyperactivity disorder, Abnormal periventricular white matter mor... OMIM:619725
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Multifocal hyperintensity of cerebral white matter on MRI, Aggressive behavior, Dysplastic corpus... ORPHA:488627
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Cognitive impairment, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, D... ORPHA:98784
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Occipital cortical atrophy, Abnormal repetitive mannerisms, Hypoplasia of the corpus callosum ORPHA:411986
Lateral Meningocele Syndrome
Ventricular septal defect, Cryptorchidism, Meningocele, Dural ectasia, Syringomyelia, Umbilical h... ORPHA:2789
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Abnormal repetitive mannerisms, Secondary microcephaly, Hypoplasia of the corpus callosum, Attent... OMIM:620073
Potocki-Lupski Syndrome
Hyperactivity, Microcephaly, Oral-pharyngeal dysphagia, Hypoplasia of the corpus callosum, Abnorm... OMIM:610883
Smith-Magenis Syndrome
Hyperactivity, Self hugging, Head-banging, Onychotillomania, Abnormal repetitive mannerisms, Self... OMIM:182290
Houge-Janssens Syndrome 3
Microcephaly, Self-injurious behavior, Hypoplasia of the corpus callosum, Attention deficit hyper... OMIM:618354
5Q14.3 Microdeletion Syndrome
Frontal cortical atrophy, Abnormal repetitive mannerisms, Hypoplasia of the corpus callosum ORPHA:228384
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Encephalocele, Exencephaly ORPHA:2211
Chromosome 2Q37 Deletion Syndrome
Hyperactivity, Aggressive behavior, Self-injurious behavior, Skin-picking, Abnormal repetitive ma... OMIM:600430
Intellectual Developmental Disorder, Autosomal Dominant 52
Hyperactivity, Microcephaly, Pica, Irritability, Obsessive-compulsive trait, Abnormal repetitive ... OMIM:617796
Radio-Tartaglia Syndrome
Impulsivity, Aggressive behavior, Microcephaly, Agenesis of corpus callosum, Attention deficit hy... OMIM:619312
Developmental And Epileptic Encephalopathy 64
Microcephaly, Self-injurious behavior, Hypoplasia of the corpus callosum, Bruxism, Abnormal repet... OMIM:618004
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Aggressive behavior, Abnormal cerebral white matter morphology, Lateral ventricle dilatation, Low... ORPHA:457279
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Aggressive behavior, Self-injurious behavior, Secondary microcephaly, Attention deficit hyperacti... OMIM:300986
Chromosome 5P13 Duplication Syndrome
Self-injurious behavior, Agenesis of corpus callosum, Abnormal repetitive mannerisms, Compulsive ... OMIM:613174
Porphyria Due To Ala Dehydratase Deficiency
Restlessness, Confusion, Abnormal fear-induced behavior, Depression, Agitation, Delirium ORPHA:100924
48,Xxyy Syndrome
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Depression ORPHA:10
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome
Abnormality of the anterior commissure, Dysphagia, Pachygyria, Abnormal repetitive mannerisms, Th... ORPHA:572013
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Microcephaly, Abnormal repetitive mannerisms, Cerebral atrophy, Inappropriate laughter, Hypoplasi... OMIM:615802
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hyperactivity, Hair-pulling, Irritability, Secondary microcephaly, Hypoplasia of the corpus callo... ORPHA:447997
Inverted Duplicated Chromosome 15 Syndrome
Hyperactivity, Microcephaly, Aggressive behavior, Self-biting, Abnormal repetitive mannerisms ORPHA:3306
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Microcephaly, Cerebral atrophy, Hypoplasia of the corpus callosum, Dysphagia, Abnormal repetitive... OMIM:617802
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Recurrent hand flapping, Abnormal repetitive mannerisms, Attention deficit hyperac... OMIM:617600
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Microcephaly, Dysplastic corpus callosum, Lissencephaly, Polymicrogyria, Agenesis of corpus callosum OMIM:614833
Intellectual Developmental Disorder, X-Linked 98
Hyperactivity, Aggressive behavior, Bulimia, Self-biting, Stereotypical body rocking, Secondary m... OMIM:300912
Dworschak-Punetha Neurodevelopmental Syndrome
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum, Microcephaly OMIM:619955
Iniencephaly
Encephalocele, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Spinal dysraphism, Syr... ORPHA:63259
Blepharocheilodontic Syndrome 1
Neural tube defect OMIM:119580
White-Sutton Syndrome
Hyperactivity, Aggressive behavior, Microcephaly, Cerebral atrophy, Self-injurious behavior, Irri... OMIM:616364
Limb Body Wall Complex
Encephalocele, Ventricular septal defect, Spina bifida, Myelomeningocele, Hydrocephalus, Anenceph... ORPHA:2369
Joubert Syndrome 14
Encephalocele, Hydrocephalus, Meningocele, Ventricular septal defect OMIM:614424
Microcephaly 26, Primary, Autosomal Dominant
Microcephaly, Dysplastic corpus callosum, Simplified gyral pattern, Hypoplasia of the corpus call... OMIM:619179
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Microcephaly, Aggressive behavior, Perisylvian polymicrogyria, Hypoplasia of the corpus callosum,... OMIM:619121
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Abnormal repetitive mannerisms, Thin corpus callosum, Reduced cerebral white matter volume, Micro... OMIM:617807
Even-Plus Syndrome
Dysplastic corpus callosum, Agenesis of corpus callosum OMIM:616854
Joubert Syndrome 23
Dysplastic corpus callosum OMIM:616490
Metachromatic Leukodystrophy, Adult Form
Short attention span, Progressive psychomotor deterioration, Emotional lability, Depression, Deme... ORPHA:309271
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Abnormal repetitive mannerisms, Microcephaly OMIM:619092
Waardenburg Syndrome Type 1
Meningocele, Spina bifida ORPHA:894
Snijders Blok-Campeau Syndrome
Abnormal repetitive mannerisms, Thin corpus callosum, Attention deficit hyperactivity disorder OMIM:618205
Ritscher-Schinzel Syndrome 4
Impulsivity, Aggressive behavior, Abnormal repetitive mannerisms, Dysphagia, Agenesis of corpus c... OMIM:619435
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Aggressive behavior, Microcephaly, Self-injurious behavior, Compulsive behaviors, Dysphagia, Atte... OMIM:617061
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Aggressive behavior, Dysplastic corpus callosum, Periventricular cysts, Thick corpus callosum, Se... ORPHA:544488
Chromosome 15Q11.2 Deletion Syndrome
Diminished ability to concentrate, Attention deficit hyperactivity disorder, Compulsive behaviors... OMIM:615656
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Microcephaly, Hypoplasia of the corpus callosum, Abnormal periventricular white matter morphology... ORPHA:500159
Cerebral Creatine Deficiency Syndrome 1
Microcephaly, Aggressive behavior, Hypoplasia of the corpus callosum, Attention deficit hyperacti... OMIM:300352
Developmental And Epileptic Encephalopathy 6B
Abnormal repetitive mannerisms OMIM:619317
Metachromatic Leukodystrophy, Juvenile Form
Short attention span, Progressive psychomotor deterioration, Emotional lability, Abnormal social ... ORPHA:309263
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Abnormal spinal cord morphology ORPHA:139578
Fountain Syndrome
Spina bifida occulta, Spina bifida ORPHA:3219
Intellectual Developmental Disorder, Autosomal Dominant 38
Aggressive behavior, Microcephaly, Hair-pulling, Cerebral atrophy, Self-injurious behavior, Bruxi... OMIM:616393
Foxg1 Syndrome Due To 14Q12 Microdeletion
Agenesis of corpus callosum, Abnormal repetitive mannerisms, Microcephaly ORPHA:261144
Mosaic Trisomy 9
Ventricular septal defect, Dextrocardia, Spina bifida, Abnormal heart valve morphology, Cryptorch... ORPHA:99776
Intellectual Developmental Disorder, Autosomal Recessive 71
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:618504
Mitochondrial Complex I Deficiency, Nuclear Type 39
Dysplastic corpus callosum OMIM:620135
Smith-Magenis Syndrome
Microcephaly, Aplasia/Hypoplasia of the corpus callosum, Self-injurious behavior, Attention defic... ORPHA:819
22Q11.2 Duplication Syndrome
Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Compulsive behaviors, M... ORPHA:1727
Keratoderma Hereditarium Mutilans
Abnormal spinal cord morphology ORPHA:494
Alazami Syndrome
Abnormal repetitive mannerisms, Self-mutilation, Stereotypical hand wringing, Abnormal eating beh... ORPHA:319671
Amish Lethal Microcephaly
Spina bifida ORPHA:99742
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Hyperactivity, Abnormal repetitive mannerisms, Compulsive behaviors, Aggressive behavior OMIM:618430
Coffin-Siris Syndrome 7
Abnormal repetitive mannerisms, Hyperactivity, Severe temper tantrums, Compulsive behaviors OMIM:618027
Developmental And Epileptic Encephalopathy 66
Abnormal repetitive mannerisms OMIM:618067
Den Hoed-De Boer-Voisin Syndrome
Short attention span, Microcephaly, Lateral ventricle dilatation, Agitation, Secondary microcepha... OMIM:619229
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Hyperactivity, Self-mutilation, Abnormal repetitive mannerisms, Low frustration tolerance OMIM:300486
48,Xxxy Syndrome
Irritability, Abnormal social behavior, Attention deficit hyperactivity disorder, Abnormal aggres... ORPHA:96263
Prader-Willi Syndrome Due To Translocation
Microcephaly, Head-banging, Lateral ventricle dilatation, Abnormal temper tantrums, Skin-picking,... ORPHA:177907
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome
Meningocele ORPHA:2003
Pagod Syndrome
Encephalocele, Spina bifida, Situs inversus totalis, Meningocele, Hypoplastic left heart, Abnorma... ORPHA:991
Heterotaxy, Visceral, 1, X-Linked
Cardiomegaly, Aqueductal stenosis, Dextrotransposition of the great arteries, Atrial septal defec... OMIM:306955
Pelvis-Shoulder Dysplasia
Hydranencephaly, Hydrocephalus, Spina bifida ORPHA:2839
Intellectual Developmental Disorder, Autosomal Dominant 34
Abnormal repetitive mannerisms, Secondary microcephaly, Bruxism OMIM:616351
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Abnormal repetitive mannerisms, Cerebral cortical atrophy, Microcephaly OMIM:619428
Wiedemann-Steiner Syndrome
Psychomotor deterioration, Short attention span, Hyperactivity, Aggressive behavior, Microcephaly... ORPHA:319182
Autosomal Recessive Cutis Laxa Type 2A
Thick cerebral cortex, Dysplastic corpus callosum, Secondary microcephaly, Primary microcephaly, ... ORPHA:357058
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features
Microcephaly, Abnormal repetitive mannerisms, Overfriendliness OMIM:616579
Phelan-Mcdermid Syndrome
Aggressive behavior, Microcephaly, Tongue thrusting, Impaired social interactions, Bruxism, Abnor... OMIM:606232
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Short attention span, Head-banging, Self-injurious behavior, Lateral ventricle dilatation, Attent... OMIM:619575
Hijazi-Reis Syndrome
Abnormal repetitive mannerisms OMIM:301094
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Dysplastic corpus callosum, Microcephaly OMIM:604273
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Meningocele ORPHA:2031
Oculoskeletodental Syndrome
Dysplastic corpus callosum, Focal white matter lesions ORPHA:557003
Neu-Laxova Syndrome 2
Intrauterine growth retardation, Spina bifida OMIM:616038
3P25.3 Microdeletion Syndrome
Cerebral white matter atrophy, Abnormal repetitive mannerisms, Attention deficit hyperactivity di... ORPHA:435638
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Aggressive behavior, Secondary microcephaly, Attention deficit hyperactivity disorder, Compulsive... ORPHA:476126
Developmental And Epileptic Encephalopathy 49
Hyperactivity, Cerebral calcification, Microcephaly, Basal ganglia calcification, Dysplastic corp... OMIM:617281
Acromelic Frontonasal Dysplasia
Encephalocele, Cryptorchidism, Meningocele ORPHA:1827
Lumbar Syndrome
Cryptorchidism, Myelomeningocele, Spina bifida ORPHA:83628
Proximal 16P11.2 Microdeletion Syndrome
Abnormal repetitive mannerisms, Impaired social interactions, Attention deficit hyperactivity dis... ORPHA:261197
Trisomy 18
Ventricular septal defect, Spina bifida, Cryptorchidism, Anencephaly, Holoprosencephaly, Atrial s... ORPHA:3380
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Dysplastic corpus callosum, Hypoplasia of the corpus callosum, Head-banging, Microcephaly OMIM:618569
Kleefstra Syndrome
Aggressive behavior, Microcephaly, Abnormal repetitive mannerisms, Self-injurious behavior, Cereb... ORPHA:261494
Spinal Arteriovenous Metameric Syndrome
Abnormal spinal cord morphology, Spinal arteriovenous malformation ORPHA:53721
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Microcephaly, Abnormal repetitive mannerisms, Cortical dysplasia, Simplified gyral pattern, Cereb... ORPHA:468631
Metachromatic Leukodystrophy, Late Infantile Form
Emotional lability, Abnormal social behavior, Punctate periventricular T2 hyperintense foci ORPHA:309256
Trichotillomania
Hair-pulling, Compulsive behaviors OMIM:613229
2Q37 Microdeletion Syndrome
Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Compulsive behaviors, M... ORPHA:1001
X-Linked Cerebral Adrenoleukodystrophy
Myelopathy, Abnormal spinal cord morphology ORPHA:139396
Fg Syndrome Type 1
Attention deficit hyperactivity disorder, Abnormal social behavior, Compulsive behaviors, Aplasia... ORPHA:93932
Cerebrofacioarticular Syndrome
Microcephaly, Dysplastic corpus callosum, Self-injurious behavior, Hypoplasia of the corpus callo... ORPHA:314679
Niemann-Pick Disease Type C
Progressive neurologic deterioration, Aggressive behavior, Mental deterioration, Cerebral atrophy... ORPHA:646
Bainbridge-Ropers Syndrome
Microcephaly, Self-injurious behavior, Lateral ventricle dilatation, Hypoplasia of the corpus cal... OMIM:615485
Macrocephaly-Developmental Delay Syndrome
Self-injurious behavior, Abnormal repetitive mannerisms ORPHA:397612
Fibular Hemimelia
Spina bifida, Abnormal heart morphology ORPHA:93323
Vacterl With Hydrocephalus
Spina bifida, Aqueductal stenosis, Cryptorchidism, Hydrocephalus, Intrauterine growth retardation ORPHA:3412
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Microcephaly, Self-injurious behavior, Hypoplasia of the corpus callosum, Primary microcephaly, A... ORPHA:457351
White-Sutton Syndrome
Hyperactivity, Aggressive behavior, Microcephaly, Self-injurious behavior, Subcortical cerebral a... ORPHA:468678
Chromosome 17P13.1 Deletion Syndrome
Hydrocele testis, Umbilical hernia, Hydrocephalus, Spina bifida OMIM:613776
Transketolase Deficiency
Self-injurious behavior, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms... ORPHA:488618
Split Cord Malformation
Tethered cord, Cervical spina bifida, Myelomeningocele, Lipomyelomeningocele, Meningocele, Hydroc... ORPHA:573278
Trisomy 20P
Macroorchidism, Umbilical hernia, Spina bifida, Cryptorchidism ORPHA:261318
Solitary Bone Cyst
Abnormal spinal cord morphology ORPHA:83468
Focal Dermal Hypoplasia
Ventricular septal defect, Spina bifida, Patent ductus arteriosus, Abnormal cardiac septum morpho... ORPHA:2092
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Restrictive behavior, Hyperactivity, Short attention span, Impulsivity, Aggressive behavior, Micr... OMIM:619475
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Hyperactivity, Microcephaly, Partial agenesis of the corpus callosum, Self-injurious behavior, Ag... OMIM:619512
Phakomatosis Pigmentokeratotica
Cryptorchidism, Spina bifida ORPHA:2874
Combined Oxidative Phosphorylation Deficiency 12
Dysplastic corpus callosum, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Leuko... OMIM:614924
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Nail-biting, Aggressive behavior, Microcephaly, Hair-pulling, Polyphagia, Self-injurious behavior... OMIM:620330
Rett Syndrome
Stereotypical hand wringing, Agitation, Primary microcephaly, Abnormal repetitive mannerisms, Pro... ORPHA:778
Combined Oxidative Phosphorylation Deficiency 53
Dysplastic corpus callosum, Secondary microcephaly OMIM:619423
Kleefstra Syndrome 1
Microcephaly, Abnormal repetitive mannerisms, Compulsive behaviors, Aggressive behavior OMIM:610253
Vater/Vacterl Association
Occipital encephalocele, Tethered cord, Ventricular septal defect, Spina bifida, Patent ductus ar... OMIM:192350
Niemann-Pick Disease, Type C2
Neurofibrillary tangles, Dementia, Abnormal repetitive mannerisms, Dysphagia OMIM:607625
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Atrial septal defect, Occipital meningocele, Hydrocephalus, Anencephaly OMIM:616546
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Patent ductus arteriosus, Atrioventricular canal defect, Tethered cord, Spina bifida OMIM:619480
Basal Cell Nevus Syndrome 1
Cardiac rhabdomyoma, Hydrocephalus, Cardiac fibroma, Spina bifida OMIM:109400
Helsmoortel-Van Der Aa Syndrome
Hyperactivity, Abnormal repetitive mannerisms, Bruxism, Irritability, Lateral ventricle dilatatio... OMIM:615873
Kapur-Toriello Syndrome
Dysplastic corpus callosum, Pachygyria, Polymicrogyria ORPHA:2328
Congenital Disorder Of Glycosylation, Type Iia
Microcephaly, Aggressive behavior, Abnormal repetitive mannerisms, Self-mutilation, Stereotypical... OMIM:212066
Waardenburg Syndrome, Type 1
Myelomeningocele, Spina bifida OMIM:193500
Tuberous Sclerosis Complex
Hyperactivity, Impulsivity, Aggressive behavior, Repetitive compulsive behavior, Cortical dysplas... ORPHA:805
Rauch-Steindl Syndrome
Hyperactivity, Microcephaly, Abnormal repetitive mannerisms, Aggressive behavior OMIM:619695
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Dysphagia, Secondary microcephaly, Hypoplasia of the corpus callosum, Primary microcephaly, Abnor... ORPHA:496641
Dihydropyrimidine Dehydrogenase Deficiency
Microcephaly, Cerebral atrophy, Irritability, Hyperintensity of cerebral white matter on MRI, Abn... ORPHA:1675
Neu-Laxova Syndrome 1
Ventricular septal defect, Spina bifida, Cryptorchidism, Patent ductus arteriosus, Stillbirth, Sh... OMIM:256520
Van Esch-O'Driscoll Syndrome
Impulsivity, Microcephaly, Shyness, Cerebral atrophy, Attention deficit hyperactivity disorder, A... OMIM:301030
Cloacal Exstrophy
Myelomeningocele, Spina bifida ORPHA:93929
Cystinosis
Polydipsia, Abnormal repetitive mannerisms ORPHA:213
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Dysplastic corpus callosum OMIM:618810
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome
Abnormal repetitive mannerisms ORPHA:529965
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Bicuspid aortic valve, Truncus arteriosus, Spina bifida, Ventricular septal defect, Perimembranou... ORPHA:508498
22Q11.2 Deletion Syndrome
Ventricular septal defect, Abnormal pulmonary valve morphology, Spina bifida, Cryptorchidism, Hyd... ORPHA:567
Monosomy 22Q13.3
Hair-pulling, Hyperactivity, Agenesis of corpus callosum, Bruxism ORPHA:48652
Pilarowski-Bjornsson Syndrome
Abnormal repetitive mannerisms OMIM:617682
Nmda Receptor Encephalitis
Short attention span, Confusion, Hypersexuality, Depression, Agitation, Memory impairment, Mania,... ORPHA:217253
Pitt-Hopkins Syndrome
Microcephaly, Self-injurious behavior, Secondary microcephaly, Hypoplasia of the corpus callosum,... OMIM:610954
Thrombocytopenia-Absent Radius Syndrome
Ventricular septal defect, Spina bifida, Patent ductus arteriosus, Syringomyelia, Atrial septal d... OMIM:274000
Nail-Patella Syndrome
Spina bifida OMIM:161200
7Q11.23 Microduplication Syndrome
Hyperactivity, Collectionism, Aggressive behavior, Polyphagia, Simplified gyral pattern, Self-inj... ORPHA:96121
Fanconi Anemia
Spina bifida, Cryptorchidism, Hydrocephalus, Patent ductus arteriosus, Azoospermia, Abnormal card... ORPHA:84
Neu-Laxova Syndrome
Intrauterine growth retardation, Spina bifida ORPHA:2671
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Social and occup... ORPHA:353281
Megalocornea-Intellectual Disability Syndrome
Abnormal repetitive mannerisms, Microcephaly ORPHA:2479
Koolen-De Vries Syndrome Due To A Point Mutation
Bicuspid aortic valve, Ventricular septal defect, Spina bifida, Testicular neoplasm, Cryptorchidi... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Bicuspid aortic valve, Ventricular septal defect, Spina bifida, Testicular neoplasm, Cryptorchidi... ORPHA:363958
Genitourinary And/Or Brain Malformation Syndrome
Absent septum pellucidum, Dysplastic corpus callosum, Colpocephaly, Secondary microcephaly, Atten... OMIM:618820
Lathosterolosis
Intrauterine growth retardation, Meningocele ORPHA:46059
Hydroxykynureninuria
Abnormal repetitive mannerisms ORPHA:79155
Jacobsen Syndrome
Ventricular septal defect, Spina bifida, Cryptorchidism, Hypoplastic left heart, Intrauterine gro... ORPHA:2308
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Occipital encephalocele, Meningocele ORPHA:397715
Curry-Jones Syndrome
Occipital meningocele, Lipomyelomeningocele OMIM:601707
Mosaic Trisomy 20
Ventricular septal defect, Cryptorchidism, Abnormal spinal cord morphology, Dysplastic tricuspid ... ORPHA:1724
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Dysplastic corpus callosum ORPHA:363444
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Repetitive compulsive behavior, Self-biting, Hemiballismus, Abnormal repetitive mannerisms, Self-... ORPHA:522077
Mucopolysaccharidosis Type 2
Short attention span, Hyperactivity, Impulsivity, Aggressive behavior, Progressive neurologic det... ORPHA:580
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Hyperactivity, Abnormal lateral ventricle morphology, Impulsivity, Aggressive behavior, Abnormal ... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Hyperactivity, Abnormal lateral ventricle morphology, Impulsivity, Aggressive behavior, Abnormal ... ORPHA:353277
Orofaciodigital Syndrome Vi
Occipital meningocele, Hypoplastic left heart OMIM:277170
Hallermann-Streiff Syndrome
Cryptorchidism, Spina bifida OMIM:234100
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Abnormal cortical gyration, Aggressive behavior, Memory impairment, Abnormal social behavior, Cer... ORPHA:314647
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Abnormal spinal cord morphology ORPHA:88628
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Microcephaly, Hypoplasia of the corpus callosum, Attention deficit hyperactivity disorder, Abnorm... ORPHA:464311
Developmental And Epileptic Encephalopathy 100
Cerebral atrophy, Thin corpus callosum, Dysphagia, Pachygyria, Abnormal repetitive mannerisms, Po... OMIM:619777
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Abnormal repetitive mannerisms, Self-mutilation, Attention deficit hyperactivity disorder OMIM:619005
Phocomelia, Schinzel Type
Intrauterine growth retardation, Meningocele, Cryptorchidism ORPHA:2879
Developmental And Epileptic Encephalopathy 2
Abnormal repetitive mannerisms, Progressive microcephaly OMIM:300672
Neurofibromatosis, Type I
Aqueductal stenosis, Hydrocephalus, Spina bifida OMIM:162200
White-Kernohan Syndrome
Dysplastic corpus callosum, Attention deficit hyperactivity disorder OMIM:619426
Marfan Syndrome
Mitral valve calcification, Meningocele, Dural ectasia, Mitral valve prolapse ORPHA:558
Joubert Syndrome 6
Abnormal repetitive mannerisms OMIM:610688
Acute Disseminated Encephalomyelitis
Abnormal spinal cord morphology, Myelitis ORPHA:83597
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Abnormal repetitive mannerisms, Hypoplasia of the corpus callosum, Microcephaly ORPHA:508533
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Abnormal repetitive mannerisms, Cerebral atrophy, Microcephaly OMIM:301040
Campomelic Dysplasia
Hydrocephalus, Abnormal heart morphology, Spina bifida, Spinal dysraphism OMIM:114290
Adrenomyeloneuropathy
Dorsal column degeneration, Atrophy of the spinal cord, Abnormal spinal cord morphology ORPHA:139399
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Short attention span, Abnormal repetitive mannerisms, Aggressive behavior OMIM:301066
Tetrasomy 9P
Pericarditis, Dextrocardia, Cryptorchidism, Hydrocephalus, Abnormal spinal cord morphology, Oligo... ORPHA:3310
Rubinstein-Taybi Syndrome 1
Ventricular septal defect, Spina bifida, Bilateral cryptorchidism, Cryptorchidism, Patent ductus ... OMIM:180849
Dyrk1A-Related Intellectual Disability Syndrome
Hyperactivity, Microcephaly, Hypoplasia of the corpus callosum, Primary microcephaly, Abnormal re... ORPHA:464306
Kinsship Syndrome
Primary microcephaly, Microcephaly, Abnormal repetitive mannerisms, Bruxism OMIM:619297
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Meningocele ORPHA:1010
Mend Syndrome
Hyperactivity, Abnormal social behavior, Hypoplasia of the corpus callosum, Aggressive behavior ORPHA:401973
Knobloch Syndrome 1
Occipital meningocele, Occipital encephalocele, Patent ductus arteriosus, Spina bifida occulta OMIM:267750
Holoprosencephaly 7
Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Holoprosencephaly, Occipital me... OMIM:610828
Aicardi Syndrome
Spina bifida OMIM:304050
Exstrophy-Epispadias Complex
Cryptorchidism, Hydrocephalus, Spina bifida, Abnormal heart morphology ORPHA:322
Lenz-Majewski Hyperostotic Dwarfism
Dysplastic corpus callosum, Agenesis of corpus callosum, Cerebral cortical atrophy, Microcephaly OMIM:151050
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Shyness, Aggressive behavior, Dysplastic corpus callosum, Pseudobulbar paralysis, Hypoplasia of t... ORPHA:466791
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Abnormal repetitive mannerisms, Hypoplasia of the corpus callosum, Microcephaly OMIM:618653
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Dysplastic corpus callosum, Thick corpus callosum, Impulsivity, Aggressive behavior OMIM:300967
Oculocerebrorenal Syndrome Of Lowe
Depression, Self-injurious behavior, Compulsive behaviors, Attention deficit hyperactivity disord... ORPHA:534
Ogden Syndrome
Microcephaly, Cerebral atrophy, Irritability, Dysphagia, Abnormal repetitive mannerisms OMIM:300855
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Microcephaly, Repetitive compulsive behavior, Stereotypical body rocking, Hypoplasia of the corpu... ORPHA:513456
1P36 Deletion Syndrome
Microcephaly, Polyphagia, Self-injurious behavior, Agenesis of corpus callosum, Dysphagia, Abnorm... ORPHA:1606
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Hyperactivity, Microcephaly, Cerebral atrophy, Hypoplasia of the corpus callosum, Abnormal repeti... OMIM:309590
Otopalatodigital Syndrome, Type Ii
Spina bifida, Cryptorchidism, Hydrocephalus, Stillbirth, Atrial septal defect, Umbilical hernia OMIM:304120
Zttk Syndrome
Abnormal cerebral white matter morphology, Periventricular leukomalacia, Dysplastic corpus callos... OMIM:617140
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Dysplastic corpus callosum, Simplified gyral pattern, Dysphagia, Abnormal cerebral white matter m... ORPHA:500150
Superficial Siderosis
Atrophy of the spinal cord, Abnormal spinal cord morphology ORPHA:247245
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Hyperactivity, Aggressive behavior, Hippocampal atrophy, Attention deficit hyperactivity disorder... OMIM:614756
Amoebiasis Due To Free-Living Amoebae
Myocardial necrosis, Abnormal spinal cord morphology ORPHA:68
Hypotonia, Ataxia, And Delayed Development Syndrome
Microcephaly, Abnormal repetitive mannerisms, Dysphagia OMIM:617330
Wolf-Hirschhorn Syndrome
Absent septum pellucidum, Microcephaly, Abnormal repetitive mannerisms, Periventricular cysts, Ca... OMIM:194190
Witteveen-Kolk Syndrome
Hyperactivity, Aggressive behavior, Microcephaly, Dysplastic corpus callosum, Cortical dysplasia,... OMIM:613406
Arboleda-Tham Syndrome
Primary microcephaly, Microcephaly, Abnormal repetitive mannerisms, Dysphagia OMIM:616268
Arima Syndrome
Occipital meningocele OMIM:243910
Norrie Disease
Microcephaly, Irritability, Self-injurious behavior, Attention deficit hyperactivity disorder, Ab... ORPHA:649
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Abnormal repetitive mannerisms, Hypoplasia of the corpus callosum, Microcephaly OMIM:301044
Williams Syndrome
Atrophy/Degeneration involving the corticospinal tracts, Microcephaly, Depression, Compulsive beh... ORPHA:904
Primrose Syndrome
Restlessness, Cerebral calcification, Aggressive behavior, Self-injurious behavior, Tics, Attenti... OMIM:259050
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Focal hypointensity of cerebral white matter on MRI, Bruxism, Large basal ganglia, Agenesis of co... ORPHA:261537
Mowat-Wilson Syndrome
Focal cortical dysplasia, Microcephaly, Abnormal repetitive mannerisms, Bruxism, Large basal gang... ORPHA:2152
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Self-injurious behavior, Abnormal repetitive mannerisms, Microcephaly OMIM:612474
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Focal hypointensity of cerebral white matter on MRI, Bruxism, Large basal ganglia, Hypoplastic an... ORPHA:261552
Coffin-Siris Syndrome 12
Hippocampal atrophy, Abnormal repetitive mannerisms, Microcephaly OMIM:619325
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Microcephaly, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Dysphagia OMIM:619522
Lowe Oculocerebrorenal Syndrome
Abnormal repetitive mannerisms, Periventricular cysts, Aggressive behavior OMIM:309000
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Abnormal repetitive mannerisms, Microcephaly OMIM:616682
Primary Sjögren Syndrome
Abnormal spinal cord morphology ORPHA:289390
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Occipital meningocele, Cryptorchidism OMIM:276820
Retinitis Pigmentosa 89
Bicuspid aortic valve OMIM:618955

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 Kif3b

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 Kif3b.

There are 5 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Kif3btm1b(EUCOMM)Wtsi PMC7263671
High-throughput phenotyping reveals expansive genetic and structural underpinnings of immune variation. Nature immunology (December 2019) Kif3btm1b(EUCOMM)Wtsi PMC7338221
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Kif3btm1b(EUCOMM)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Kif3btm1b(EUCOMM)Wtsi PMC6459510
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation. Scientific data (September 2017) Kif3btm1b(EUCOMM)Wtsi PMC5827107

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Kif3btm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Kif3btm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Kif3btm1b(EUCOMM)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice

The IMPC Newsletter

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

Subscribe to newsletter