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Gene: Kif3b MGI:107688

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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
prenatal lethality prior to heart atrial septation Kif3btm1b(EUCOMM)Wtsi HOM   E15.5 0.00
increased grip strength Kif3btm1b(EUCOMM)Wtsi HET Early adult 6.62×10-09
preweaning lethality, complete penetrance Kif3btm1b(EUCOMM)Wtsi HOM   Early adult 0.00

Download data as:  TSV  XLS

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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 0.68% (4 of 587)
aorta 0.17% (1 of 592)
blood vessel 0.0%
bone 0.0%
brain 0.85% (5 of 586)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 591)
cerebellum 0.51% (3 of 591)
cerebral cortex 0.34% (2 of 587)
eye 0.0%
gall bladder 0.0%
heart 0.34% (2 of 588)
hippocampus 0.51% (3 of 591)
hypothalamus 0.34% (2 of 590)
kidney 4.57% (27 of 591)
large intestine 5.25% (31 of 591)
liver 0.0%
lower urinary tract 0.17% (1 of 590)
lung 0.34% (2 of 587)
lymph node 0.17% (1 of 590)
mammary gland 0.0%
oesophagus 0.0%
olfactory lobe 0.34% (2 of 586)
ovary 0.17% (1 of 589)
oviduct 0.0%
pancreas 0.85% (5 of 587)
parathyroid gland 0.18% (1 of 570)
peripheral nervous system 0.34% (2 of 588)
peyer's patch 0.57% (1 of 175)
pituitary gland 0.17% (1 of 594)
prostate gland 2.19% (13 of 593)
skeletal muscle tissue 0.0%
skin 0.17% (1 of 585)
small intestine 5.26% (31 of 589)
spinal cord 0.51% (3 of 589)
spleen 0.51% (3 of 591)
stomach 3.74% (22 of 589)
striatum 0.51% (3 of 584)
testis 1.02% (6 of 590)
thymus 0.17% (1 of 586)
thyroid gland 2.89% (17 of 589)
trachea 0.51% (3 of 591)
uterus 0.34% (2 of 589)
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 Skull Dorso Ventral Orientation

14 Images

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X-ray

XRay Images Whole Body Lateral Orientation

14 Images

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X-ray

XRay Images Forepaw

14 Images

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X-ray

XRay Images Skull Lateral Orientation

14 Images

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Anti-nuclear antibody assay

Images

6 Images

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X-ray

XRay Images Whole Body Dorso Ventral

14 Images

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DSS Histology

Images

8 Images

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FCS thumbnail FCS
Ear epidermis immunophenotyping

Images

12 Images

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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
Behavioral Variant Of Frontotemporal Dementia
Motor stereotypy, Apathy, Upper motor neuron dysfunction, Frontotemporal cerebral atrophy, Mental... ORPHA:275864
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Motor stereotypy, Cerebral cortical atrophy, Self-injurious behavior, Poor eye contact, Hypoplasi... OMIM:617820
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Motor stereotypy, Hypertonia, Self-injurious behavior, Microcephaly, Cortical dysplasia, Hypoplas... OMIM:615282
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Motor stereotypy, Amyotrophic lateral sclerosis, Apathy, Babinski sign, Disinhibition, Spasticity... OMIM:612069
Craniofacial Conodysplasia
Hydrocephalus, Spinal cord compression ORPHA:85168
Foxg1 Syndrome
Motor stereotypy, Poor eye contact, Cognitive impairment, Inappropriate crying, Myoclonus, Hyperk... ORPHA:561854
Ossification Of The Posterior Longitudinal Ligament Of Spine
Myelopathy, Spinal cord compression OMIM:602475
Glycosylphosphatidylinositol Biosynthesis Defect 17
Overfriendliness, Dysplastic corpus callosum, Primary microcephaly, Aggressive behavior OMIM:618010
Pick Disease Of Brain
Motor stereotypy, Apathy, Frontotemporal dementia, Emotional blunting, Disinhibition, Inappropria... OMIM:172700
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Motor stereotypy, Cerebral atrophy, Microcephaly, Spasticity, Irritability OMIM:617393
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Motor stereotypy, Apathy, Cerebral cortical atrophy, Myoclonus, Babinski sign, Rigidity, Inapprop... OMIM:600795
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Ventricular septal defect, Spina bifida, Anencephaly, Hypoplastic left heart ORPHA:2476
Spastic Paraplegia 45, Autosomal Recessive
Dysplastic corpus callosum, Babinski sign, Hypoplasia of the corpus callosum, Spastic paraplegia,... OMIM:613162
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Self-injurious behavior, Inappropriate crying, Hyperkinetic movements, Stereotypical hand wringin... ORPHA:397933
Asperger Syndrome, X-Linked, Susceptibility To, 2
Motor stereotypy, Impaired ability to form peer relationships, Abnormal nonverbal communicative b... OMIM:300497
Asperger Syndrome, X-Linked, Susceptibility To, 1
Motor stereotypy, Impaired ability to form peer relationships, Abnormal nonverbal communicative b... OMIM:300494
Asperger Syndrome, Susceptibility To, 1
Motor stereotypy, Impaired ability to form peer relationships, Abnormal nonverbal communicative b... OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Motor stereotypy, Impaired ability to form peer relationships, Abnormal nonverbal communicative b... OMIM:608631
Childhood Disintegrative Disorder
Motor stereotypy, Social and occupational deterioration, Progressive language deterioration, Abno... ORPHA:168782
Anencephaly 1
Spina bifida, Anencephaly OMIM:206500
Neural Tube Defects, X-Linked
Spina bifida, Anencephaly OMIM:301410
Autism, Susceptibility To, X-Linked 3
Lack of peer relationships, Motor stereotypy, Abnormal nonverbal communicative behavior OMIM:300496
Autism, Susceptibility To, 8
Motor stereotypy, Impaired ability to form peer relationships, Abnormal nonverbal communicative b... OMIM:607373
Autism, Susceptibility To, X-Linked 1
Lack of peer relationships, Motor stereotypy, Abnormal nonverbal communicative behavior OMIM:300425
Autism
Motor stereotypy, Impaired ability to form peer relationships, Abnormal nonverbal communicative b... OMIM:209850
Chromosome 15Q11-Q13 Duplication Syndrome
Motor stereotypy, Impaired ability to form peer relationships, Abnormal nonverbal communicative b... OMIM:608636
Intellectual Developmental Disorder With Autism And Speech Delay
Motor stereotypy, Pachygyria, Impaired social interactions OMIM:606053
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Motor stereotypy, Ataxia, Poor coordination, Microcephaly, Chorea, Aggressive behavior, Inappropr... OMIM:619150
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Ataxia, Dysplastic corpus callosum, Poor eye contact, Microcephaly, Tetraparesis, Spasticity, Ton... OMIM:618276
Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract
Cerebral atrophy, Microcephaly, Stereotypical hand wringing, Spasticity, Cerebral white matter hy... ORPHA:500545
N-Acetylaspartate Deficiency
Motor stereotypy, Microcephaly, Truncal ataxia, Self-mutilation OMIM:614063
Smith-Magenis syndrome
Motor stereotypy, Self-mutilation DECIPHER:8
Intellectual Developmental Disorder, Autosomal Recessive 58
Motor stereotypy, Self-injurious behavior, Spastic diplegia, Choreoathetosis, Aggressive behavior OMIM:617270
Intellectual Developmental Disorder, X-Linked 109
Recurrent hand flapping, Impulsivity, Stereotypical body rocking, Poor coordination, Microcephaly... OMIM:309548
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Motor stereotypy, Microcephaly, Tremor, Aggressive behavior, Spastic tetraparesis, Simplified gyr... OMIM:619470
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Motor stereotypy, Ataxia, Cerebral cortical atrophy, Hypoplasia of the corpus callosum, Tremor, P... OMIM:617862
Autosomal Recessive Non-Syndromic Intellectual Disability
Motor stereotypy, Impulsivity, Cerebral atrophy, Large basal ganglia, Depression, Microcephaly, C... ORPHA:88616
Frontal Encephalocele
Encephalocele, Spina bifida, Hydrocephalus ORPHA:1931
Dopa-Responsive Dystonia
Agoraphobia, Abnormal social behavior, Depression, Poor coordination, Fatigable weakness, Anxiety... ORPHA:255
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Motor stereotypy, Ataxia, Microcephaly, Cortical dysplasia, Abnormal corpus callosum morphology OMIM:618709
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Chudley-Mccullough Syndrome
Partial agenesis of the corpus callosum, Polymicrogyria, Dysplastic corpus callosum, Hypoplasia o... OMIM:604213
Atypical Rett Syndrome
Poor eye contact, Inappropriate crying, Hand apraxia, Pill-rolling tremor, Panic attack, Stereoty... ORPHA:3095
Fraxe Intellectual Disability
Clumsiness, Impulsivity, Recurrent hand flapping, Stereotypical body rocking, Aggressive behavior ORPHA:100973
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Abnormal cerebral white matter morphology, Dysplastic corpus callosum, Mild malformation of corti... ORPHA:500166
Juvenile Neuronal Ceroid Lipofuscinosis
Motor stereotypy, Clumsiness, Poor fine motor coordination, Progressive language deterioration, C... ORPHA:79264
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Mitral valve prolapse, Spina bifida OMIM:211960
Brunet-Wagner Neurodevelopmental Syndrome
Motor stereotypy, Cerebral atrophy, Self-injurious behavior, Thin corpus callosum OMIM:619690
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Self-injurious behavior, Stereotypical hand wringing, Chorea, Hypoplasia of the corpus callosum OMIM:618760
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Motor stereotypy, Self-injurious behavior, Anxiety, Speech apraxia, Aggressive behavior OMIM:613670
Acalvaria
Hydrocephalus, Spina bifida, Holoprosencephaly ORPHA:945
Chromosome 3Q29 Deletion Syndrome
Motor stereotypy, Microcephaly, Anxiety, Gait ataxia, Aggressive behavior OMIM:609425
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Motor stereotypy, Ataxia, Bradykinesia, Resting tremor, Intention tremor, Myoclonus, Anxiety, Pan... OMIM:619725
Pontocerebellar Hypoplasia, Type 11
Motor stereotypy, Happy demeanor, Ataxia, Poor eye contact, Limb ataxia, Poor coordination, Micro... OMIM:617695
Baker-Gordon Syndrome
Motor stereotypy, Ataxia, Self-injurious behavior, Hyperkinetic movements, Choreoathetosis, Invol... OMIM:618218
Severe Intellectual Disability And Progressive Spastic Paraplegia
Motor stereotypy, Cerebral cortical atrophy, Microcephaly, Babinski sign, Spastic dysarthria, Hyp... ORPHA:280763
Hyperprolinemia, Type I
Motor stereotypy, Ataxia, Aggressive behavior OMIM:239500
Developmental And Epileptic Encephalopathy 107
Motor stereotypy, Microcephaly, Progressive microcephaly OMIM:620033
Intellectual Developmental Disorder, Autosomal Recessive 73
Recurrent hand flapping, Impulsivity, Poor coordination, Gait ataxia, Irritability OMIM:619717
Developmental And Epileptic Encephalopathy 58
Motor stereotypy, Spastic diplegia, Secondary microcephaly OMIM:617830
Cntnap2-Related Developmental And Epileptic Encephalopathy
Ataxia, Poor eye contact, Progressive language deterioration, Self-mutilation, Mental deteriorati... ORPHA:163681
Hereditary Geniospasm
Chin myoclonus, Abnormal social behavior ORPHA:53372
Mucolipidosis Iv
Cerebral dysmyelination, Dysplastic corpus callosum, Microcephaly, Babinski sign, Progressive neu... OMIM:252650
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Motor stereotypy OMIM:617787
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Motor stereotypy, Self-injurious behavior, Cerebral atrophy, Stereotypical hand wringing, Chorea,... OMIM:618917
Hsd10 Disease
Ataxia, Focal white matter lesions, Spastic paraparesis, Abnormal social behavior, Myoclonus, Mic... ORPHA:391417
Pitt-Hopkins-Like Syndrome 1
Motor stereotypy, Ataxia, Progressive language deterioration, Cortical dysplasia, Spasticity, Agg... OMIM:610042
Early-Onset Autosomal Dominant Alzheimer Disease
Hypertonia, Ataxia, Cerebral cortical atrophy, Semantic dementia, Abnormal social behavior, Myocl... ORPHA:1020
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Motor stereotypy, Self-injurious behavior, Microcephaly, Tremor, Spasticity, Paroxysmal bursts of... OMIM:618718
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Apathy, Cerebral cortical atrophy, Progressive language deterioration, Parkinsonism, Memory impai... OMIM:607485
Intellectual Developmental Disorder, X-Linked 72
Motor stereotypy OMIM:300271
Intellectual Developmental Disorder With Autism And Macrocephaly
Reduced use of typical gestures, Clumsiness, Recurrent hand flapping, Anxiety, Pronoun reversal OMIM:615032
Primary Dystonia, Dyt13 Type
Torticollis, Motor stereotypy, Action tremor, Involuntary movements, Postural tremor ORPHA:98807
11Q22.2Q22.3 Microdeletion Syndrome
Anxiety, Poor eye contact, Hypoplasia of the corpus callosum, Abnormal social behavior ORPHA:444002
Caudal Duplication
Myelomeningocele, Spina bifida, Spinal cord lesion ORPHA:1756
Xq28 (MECP2) duplication
Motor stereotypy, Depression, Microcephaly, Anxiety, Hypoplasia of the corpus callosum, Progressi... DECIPHER:45
Early-Onset Schizophrenia
Impairment in personality functioning, Cognitive impairment, Abnormal emotion/affect behavior, De... ORPHA:96369
Late Infantile Neuronal Ceroid Lipofuscinosis
Motor stereotypy, Ataxia, Cortical myoclonus, Cerebral atrophy, Mental deterioration, Myoclonus, ... ORPHA:168491
Christianson Syndrome
Conspicuously happy disposition, Motor stereotypy, Cerebral cortical atrophy, Microcephaly, Trunc... ORPHA:85278
Craniorachischisis
Myelomeningocele, Cervical spina bifida, Anencephaly, Sirenomelia, Spinal dysraphism ORPHA:63260
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Abnormal social behavior ORPHA:436151
Chiari Malformation Type Ii
Myelomeningocele, Hydrocephalus, Syringomyelia, Spina bifida, Cervical myelopathy OMIM:207950
Autism, Susceptibility To, X-Linked 2
Lack of peer relationships, Motor stereotypy, Abnormal nonverbal communicative behavior OMIM:300495
Autosomal Dominant Non-Syndromic Intellectual Disability
Motor stereotypy, Leukoencephalopathy, Self-injurious behavior, Cerebral atrophy, Microcephaly, C... ORPHA:178469
Developmental And Epileptic Encephalopathy 97
Tremor, Stereotypical hand wringing OMIM:619561
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Motor stereotypy, Happy demeanor, Ataxia, Impulsivity, Recurrent hand flapping, Opisthotonus, Lim... OMIM:619580
Intellectual Developmental Disorder, Autosomal Recessive 39
Motor stereotypy, Microcephaly, Aggressive behavior OMIM:615541
Bilateral Generalized Polymicrogyria
Motor stereotypy, Self-injurious behavior, Microcephaly, Hypoplasia of the corpus callosum, Later... ORPHA:208447
Schisis Association
Encephalocele, Spina bifida, Anencephaly ORPHA:63862
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Motor stereotypy, Microcephaly, Anxiety, Spastic ataxia OMIM:618906
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities
Cerebral cortical atrophy, Recurrent hand flapping, Hypoplasia of the corpus callosum, Spasticity... OMIM:618859
Nevus Comedonicus Syndrome
Spina bifida, Spina bifida occulta ORPHA:64754
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Large basal ganglia, Hypoplasia of the corpus callosum, Polymicrogyria, Primary microcephaly, Spa... ORPHA:300570
Combined Oxidative Phosphorylation Deficiency 54
Hypertonia, Dysplastic corpus callosum, Hemiparesis, Memory impairment, Tremor, Secondary microce... OMIM:619737
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Motor stereotypy, Self-mutilation, Depression, Microcephaly, Anxiety, Hyperkinetic movements, Tre... ORPHA:457240
Rett Syndrome, Congenital Variant
Motor stereotypy, Progressive microcephaly, Poor eye contact, Inappropriate crying, Chorea, Athet... OMIM:613454
Intellectual Developmental Disorder, Autosomal Dominant 7
Motor stereotypy, Happy demeanor, Ataxia, Cerebral cortical atrophy, Microcephaly, Stereotypical ... OMIM:614104
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Bicuspid aortic valve, Anomalous pulmonary venous return, Atrial septal defect, Atrioventricular ... ORPHA:1120
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Motor stereotypy, Self-injurious behavior, Poor eye contact, Recurrent hand flapping, Depression,... ORPHA:449291
Metachromatic Leukodystrophy, Adult Form
Clumsiness, Progressive psychomotor deterioration, Abnormal social behavior, Depression, Intentio... ORPHA:309271
4Q21 Microdeletion Syndrome
Motor stereotypy, Tremor, Self-injurious behavior, Agenesis of corpus callosum ORPHA:238750
Isolated Klippel-Feil Syndrome
Ventricular septal defect, Spina bifida ORPHA:2345
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Motor stereotypy, Happy demeanor, Poor eye contact, Microcephaly, Gait ataxia, Spasticity OMIM:617807
Cdkl5-Deficiency Disorder
Inappropriate laughter, Poor eye contact, Stereotypical hand wringing ORPHA:505652
Intellectual Developmental Disorder, Autosomal Recessive 41
Motor stereotypy, Anxiety, Self-injurious behavior OMIM:615637
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Motor stereotypy, Ataxia, Cognitive impairment, Microcephaly, Anxiety, Paraplegia, Emotional labi... ORPHA:927
Microphthalmia-Brain Atrophy Syndrome
Inappropriate crying, Microcephaly, Corpus callosum atrophy, Tongue thrusting, Lateral ventricle ... ORPHA:77299
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Motor stereotypy, Ataxia, Poor eye contact, Depression, Microcephaly, Anxiety, Rigidity, Chorea, ... OMIM:300260
Combined Oxidative Phosphorylation Deficiency 12
Leukoencephalopathy, Dysplastic corpus callosum, Bradykinesia, Hypoplasia of the corpus callosum,... OMIM:614924
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language
Self-injurious behavior, Cerebral atrophy, Recurrent hand flapping OMIM:617268
Acropectorovertebral Dysplasia
Spina bifida ORPHA:957
Metachromatic Leukodystrophy, Juvenile Form
Clumsiness, Progressive psychomotor deterioration, Abnormal social behavior, Intention tremor, De... ORPHA:309263
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Motor stereotypy, Microcephaly, Hypoplasia of the corpus callosum, Abnormal cerebral white matter... ORPHA:391307
Sirenomelia
Spina bifida, Sirenomelia ORPHA:3169
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Motor stereotypy, Cognitive impairment, Depression, Anxiety, Suicidal ideation, Involuntary movem... ORPHA:98784
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum, Polymicrogyria ORPHA:250972
Autism Spectrum Disorder Due To Auts2 Deficiency
Motor stereotypy, Hypertonia, Cerebral palsy, Microcephaly, Spasticity, Repetitive compulsive beh... ORPHA:352490
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Motor stereotypy, Poor eye contact, Myoclonus, Hypoplasia of the corpus callosum, Occipital corti... ORPHA:411986
Obesity, Hyperphagia, And Developmental Delay
Motor stereotypy, Poor eye contact OMIM:613886
Developmental And Epileptic Encephalopathy 30
Motor stereotypy OMIM:616341
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Motor stereotypy, Hypertonia, Ataxia, Myoclonus, Microcephaly, Tremor, Gait ataxia OMIM:619092
Coffin-Siris Syndrome 6
Motor stereotypy, Periventricular leukomalacia, Anxiety, Tics OMIM:617808
Female Restricted Epilepsy With Intellectual Disability
Anxiety, Impulsivity, Aggressive behavior, Abnormal social behavior ORPHA:101039
Pontocerebellar Hypoplasia Type 2
Dysplastic corpus callosum, Babinski sign, Hypoplasia of the corpus callosum, Abnormal cortical g... ORPHA:2524
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Motor stereotypy, Tremor, Microcephaly, Aggressive behavior OMIM:618342
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Motor stereotypy, Perisylvian polymicrogyria, Dysmetria, Microcephaly, Babinski sign, Truncal ata... OMIM:619121
Choreoacanthocytosis
Frontal cortical atrophy, Mental deterioration, Chorea, Emotional lability, Slurred speech, Brady... ORPHA:2388
Intellectual Developmental Disorder, Autosomal Dominant 45
Motor stereotypy, Recurrent hand flapping, Cerebral palsy, Anxiety, Myoclonus, Chorea OMIM:617600
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Conspicuously happy disposition, Hypertonia, Ataxia, Motor stereotypy, Self-injurious behavior, R... OMIM:300986
Ritscher-Schinzel Syndrome 4
Motor stereotypy, Ataxia, Impulsivity, Chorea, Athetosis, Aggressive behavior, Agenesis of corpus... OMIM:619435
Syngap1-Related Developmental And Epileptic Encephalopathy
Ataxia, Recurrent hand flapping, Poor coordination, Microcephaly, Tremor, Impaired social interac... ORPHA:544254
Radio-Tartaglia Syndrome
Motor stereotypy, Ataxia, Impulsivity, Poor eye contact, Microcephaly, Tremor, Aggressive behavio... OMIM:619312
2Q23.1 Microdeletion Syndrome
Motor stereotypy, Ataxia, Self-injurious behavior, Microcephaly, Paroxysmal bursts of laughter ORPHA:228402
Developmental And Epileptic Encephalopathy 6B
Motor stereotypy, Ataxia, Myoclonus, Hyperkinetic movements, Chorea, Choreoathetosis OMIM:619317
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Dysplastic corpus callosum, Microcephaly, Abnormal pyramidal sign, Polymicrogyria, Lissencephaly,... OMIM:614833
Fragile X Syndrome
Poor eye contact, Recurrent hand flapping, Self-biting OMIM:300624
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Motor stereotypy, Hypertonia, Impulsivity, Self-injurious behavior, Cerebral palsy, Hypoplasia of... OMIM:618914
Cri-Du-Chat Syndrome
Conspicuously happy disposition, Overfriendliness, Hypertonia, Motor stereotypy, Self-mutilation,... OMIM:123450
Distal Xq28 Microduplication Syndrome
Impulsivity, Poor eye contact, Stereotypical body rocking, Depression, Microcephaly, Anxiety, Sel... ORPHA:293939
Intellectual Developmental Disorder, X-Linked 98
Motor stereotypy, Ataxia, Poor eye contact, Recurrent hand flapping, Stereotypical body rocking, ... OMIM:300912
Developmental And Speech Delay Due To Sox5 Deficiency
Motor stereotypy, Anxiety, Self-injurious behavior, Aggressive behavior ORPHA:313892
Intellectual Developmental Disorder, Autosomal Dominant 51
Hand-leading gestures, Tics, Aggressive behavior, Recurrent hand flapping OMIM:617788
Czeizel-Losonci Syndrome
Myelomeningocele, Hydrocephalus, Spina bifida occulta, Dextrocardia, Spina bifida ORPHA:2437
Intellectual Developmental Disorder, Autosomal Recessive 38
Recurrent hand flapping, Aggressive behavior, Self-mutilation OMIM:615516
Niemann-Pick Disease Type C
Ataxia, Cataplexy, Frontal cortical atrophy, Abnormal social behavior, Mental deterioration, Chor... ORPHA:646
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Motor stereotypy, Head-banging, Dysplastic corpus callosum, Microcephaly, Partial agenesis of the... OMIM:619103
Childhood Absence Epilepsy
Abnormal social behavior, Depression, Anxiety, Low self esteem, Limb myoclonus, Punding ORPHA:64280
Posterior Meningocele
Occipital meningocele, Hydrocephalus, Tethered cord, Neural tube defect, Meningocele, Lipomyelome... ORPHA:268810
48,Xxyy Syndrome
Motor stereotypy, Ataxia, Depression, Anxiety, Tremor ORPHA:10
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Motor stereotypy, Ataxia, Cerebral cortical atrophy, Poor eye contact, Microcephaly, No social in... OMIM:619428
Inverted Duplicated Chromosome 15 Syndrome
Motor stereotypy, Microcephaly, Aggressive behavior, Self-biting ORPHA:3306
X-Linked Intellectual Disability, Cantagrel Type
Motor stereotypy, Cerebral cortical atrophy, Hypoplasia of the corpus callosum, Tetraparesis ORPHA:85277
Metachromatic Leukodystrophy, Late Infantile Form
Clumsiness, Abnormal social behavior, Decerebrate rigidity, Babinski sign, Frequent falls, Puncta... ORPHA:309256
Amish Lethal Microcephaly
Spina bifida ORPHA:99742
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Hypertonia, Myoclonus, Stereotypical hand wringing, Hypoplasia of the corpus callosum, Diffuse ce... ORPHA:289266
Anophthalmia Plus Syndrome
Spina bifida ORPHA:1104
Dentici-Novelli Neurodevelopmental Syndrome
Motor stereotypy, Hypertonia, Microcephaly, Thin corpus callosum, Simplified gyral pattern OMIM:619877
Alazami Syndrome
Motor stereotypy, Anxiety, Stereotypical hand wringing, Self-mutilation ORPHA:319671
Camptodactyly Syndrome, Guadalajara Type 1
Spina bifida, Intrauterine growth retardation ORPHA:1327
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Multifocal cerebral white matter abnormalities, Dysplastic corpus callosum, Cerebral cortical atr... ORPHA:488627
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Happy demeanor, Ataxia, Recurrent hand flapping, Cessation of head growth, Myoclonus, Tongue thru... ORPHA:98794
Blepharophimosis-Impaired Intellectual Development Syndrome
Overfriendliness, Motor stereotypy, Thin corpus callosum, Low frustration tolerance OMIM:619293
Cerebral Creatine Deficiency Syndrome 1
Motor stereotypy, Hypertonia, Microcephaly, Hypoplasia of the corpus callosum, Speech apraxia, Ag... OMIM:300352
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities
Dysplastic corpus callosum, Cerebral palsy, Appendicular spasticity, Microcephaly, Simplified gyr... OMIM:620001
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Hydrocephalus, Abnormality of the spinal cord ORPHA:99947
Lamb-Shaffer Syndrome
Motor stereotypy, Ataxia, Abnormal social behavior, Microcephaly, Upper motor neuron dysfunction ORPHA:530983
Short Stature, Developmental Delay, And Congenital Heart Defects
Motor stereotypy, Self-injurious behavior OMIM:617044
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Motor stereotypy, Ataxia, Cavum septum pellucidum, Lateral ventricle dilatation, Abnormal cerebra... ORPHA:457279
Intellectual Developmental Disorder, Autosomal Recessive 13
Abnormal cerebral white matter morphology, Secondary microcephaly, Recurrent hand flapping, Hypop... OMIM:613192
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type
Cervical spina bifida OMIM:600122
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Motor stereotypy, Aggressive behavior OMIM:618825
Macrocephaly-Developmental Delay Syndrome
Motor stereotypy, Anxiety, Self-injurious behavior ORPHA:397612
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3
Small basal ganglia, Dysplastic corpus callosum, Cerebral atrophy, Hypoplasia of the corpus callo... OMIM:616900
Midline Malformations, Multiple, With Limb Abnormalities And Hypopituitarism
Dysplastic corpus callosum OMIM:601016
Cerebrocostomandibular Syndrome
Myelomeningocele, Hydranencephaly, Ventricular septal defect, Meningocele, Spina bifida, Intraute... ORPHA:1393
Angelman Syndrome
Happy demeanor, Ataxia, Cerebral dysmyelination, Self-injurious behavior, Poor eye contact, Recur... ORPHA:72
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Motor stereotypy, Hypertonia, Cerebral atrophy, Microcephaly, Babinski sign, Hypoplasia of the co... OMIM:615802
Autism, Susceptibility To, 3
Motor stereotypy, Impaired ability to form peer relationships, Abnormal nonverbal communicative b... OMIM:608049
Galloway-Mowat Syndrome 6
Motor stereotypy, Microcephaly, Paroxysmal bursts of laughter OMIM:618347
White-Sutton Syndrome
Overfriendliness, Motor stereotypy, Self-injurious behavior, Cerebral atrophy, Microcephaly, Anxi... OMIM:616364
Potocki-Lupski Syndrome
Motor stereotypy, Microcephaly, Poor eye contact, Hypoplasia of the corpus callosum OMIM:610883
Angelman Syndrome Due To A Point Mutation
Happy demeanor, Ataxia, Recurrent hand flapping, Cessation of head growth, Tongue thrusting, Inap... ORPHA:411511
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Exencephaly, Encephalocele ORPHA:2211
Blepharocheilodontic Syndrome 1
Neural tube defect OMIM:119580
Smith-Magenis Syndrome
Motor stereotypy, Head-banging, Self-mutilation OMIM:182290
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Motor stereotypy, Cerebral cortical atrophy, Self-injurious behavior, Poor eye contact, Limb hype... ORPHA:457351
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Anxiety, Oromotor apraxia, Spasticity, Repetitive compulsive behavior ORPHA:391372
Developmental And Epileptic Encephalopathy 26
Stereotypical hand wringing OMIM:616056
Joubert Syndrome 23
Dysplastic corpus callosum OMIM:616490
Microcephaly 26, Primary, Autosomal Dominant
Dysplastic corpus callosum, Microcephaly, Stereotypical hand wringing, Hypoplasia of the corpus c... OMIM:619179
Autosomal Recessive Cutis Laxa Type 2A
Ataxia, Dysplastic corpus callosum, Athetosis, Thick cerebral cortex, Primary microcephaly, Spast... ORPHA:357058
Iniencephaly
Myelomeningocele, Hydrocephalus, Holoprosencephaly, Anencephaly, Spinal dysraphism, Encephalocele... ORPHA:63259
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Blepharospasm, Exaggerated startle response, Limb hypertonia, Babinski sign, Myoclon... OMIM:608643
Dworschak-Punetha Neurodevelopmental Syndrome
Microcephaly, Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum OMIM:619955
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Motor stereotypy, Ataxia, Poor eye contact, Self-mutilation, Hyperkinetic movements, Chorea, Self... ORPHA:522077
Developmental And Epileptic Encephalopathy 87
Hypertonia, Recurrent hand flapping, Cerebral atrophy OMIM:618916
Snijders Blok-Campeau Syndrome
Motor stereotypy, Speech apraxia OMIM:618205
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Motor stereotypy, Hypertonia, Cerebral hypoplasia, Self-injurious behavior, Cerebral atrophy, Hyp... ORPHA:468631
Intellectual Developmental Disorder, Autosomal Dominant 52
Motor stereotypy, Microcephaly, Anxiety, Irritability OMIM:617796
5Q14.3 Microdeletion Syndrome
Motor stereotypy, Frontal cortical atrophy, Hypoplasia of the corpus callosum ORPHA:228384
Marbach-Schaaf Neurodevelopmental Syndrome
Torticollis, Happy demeanor, Recurrent hand flapping, Microcephaly, Tremor, Speech apraxia, Aggre... OMIM:619680
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Motor stereotypy, Hypertonia, Hair-pulling, Myoclonic spasms, Hypoplasia of the corpus callosum, ... ORPHA:447997
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Thick corpus callosum, Dysplastic corpus callosum, Self-injurious behavior, Lateral ventricle dil... ORPHA:544488
Chromosome 5P13 Duplication Syndrome
Motor stereotypy, Agenesis of corpus callosum OMIM:613174
Limb Body Wall Complex
Myelomeningocele, Hydrocephalus, Atrial septal defect, Short umbilical cord, Anencephaly, Spina b... ORPHA:2369
Even-Plus Syndrome
Dysplastic corpus callosum, Agenesis of corpus callosum OMIM:616854
Smith-Magenis Syndrome
Motor stereotypy, Self-injurious behavior, Microcephaly, Anxiety, Corticospinal tract hypoplasia,... ORPHA:819
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Motor stereotypy, Self-injurious behavior, Microcephaly, Tremor, Aggressive behavior OMIM:617061
Rett Syndrome
Cerebral cortical atrophy, Gait apraxia, Stereotypical hand wringing, Truncal ataxia, Motor deter... OMIM:312750
Intellectual Developmental Disorder, Autosomal Dominant 38
Motor stereotypy, Ataxia, Self-injurious behavior, Cerebral atrophy, Microcephaly, Aggressive beh... OMIM:616393
Intellectual Developmental Disorder, Autosomal Dominant 1
Ataxia, Self-injurious behavior, Poor eye contact, Recurrent hand flapping, Hypoplasia of the fro... OMIM:156200
Waardenburg Syndrome Type 1
Spina bifida, Meningocele ORPHA:894
Phelan-Mcdermid Syndrome
Motor stereotypy, Poor eye contact, Microcephaly, Tongue thrusting, Abnormal periventricular whit... OMIM:606232
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Hypertonia, Microcephaly, Dysplastic corpus callosum OMIM:604273
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Motor stereotypy, Microcephaly, Polymicrogyria, Hypoplasia of the corpus callosum, Abnormal periv... ORPHA:500159
Fountain Syndrome
Spina bifida, Spina bifida occulta ORPHA:3219
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Motor stereotypy, Self-mutilation, Gait ataxia, Spasticity, Low frustration tolerance OMIM:300486
Pyruvate Carboxylase Deficiency
Apathy, Ataxia, Poor eye contact, Recurrent hand flapping, Abnormal pyramidal sign, Basal ganglia... ORPHA:3008
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Head-banging, Dysplastic corpus callosum, Microcephaly, Hypoplasia of the corpus callosum, Spasti... OMIM:618569
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Abnormality of the spinal cord ORPHA:139578
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Motor stereotypy, Cerebral cortical atrophy, Cerebral atrophy, Microcephaly, Hypoplasia of the co... OMIM:617802
22Q11.2 Duplication Syndrome
Motor stereotypy, Microcephaly, Anxiety ORPHA:1727
Intellectual Developmental Disorder, Autosomal Dominant 48
Motor stereotypy, Microcephaly, Polymicrogyria, Hypoplasia of the corpus callosum OMIM:617751
Foxg1 Syndrome Due To 14Q12 Microdeletion
Motor stereotypy, Microcephaly, Agenesis of corpus callosum ORPHA:261144
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features
Overfriendliness, Motor stereotypy, Microcephaly, Gait ataxia, Incoordination OMIM:616579
Mosaic Trisomy 9
Atrial septal defect, Endocardial fibroelastosis, Ventricular septal defect, Dextrocardia, Patent... ORPHA:99776
Kleefstra Syndrome
Motor stereotypy, Cerebral cortical atrophy, Self-injurious behavior, Self-mutilation, Microcepha... ORPHA:261494
Cerebrofacioarticular Syndrome
Ataxia, Dysplastic corpus callosum, Self-injurious behavior, Microcephaly, Hypoplasia of the corp... ORPHA:314679
Keratoderma Hereditarium Mutilans
Abnormality of the spinal cord ORPHA:494
Leber Congenital Amaurosis 2
Eye poking OMIM:204100
Nmda Receptor Encephalitis
Motor stereotypy, Opisthotonus, Depression, Myoclonus, Anxiety, No social interaction, Rigidity, ... ORPHA:217253
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Motor stereotypy, Self-mutilation, Tremor, Gait ataxia, Primary microcephaly, Aggressive behavior... ORPHA:476126
Prader-Willi Syndrome Due To Translocation
Motor stereotypy, Happy demeanor, Head-banging, Cerebral cortical atrophy, Abnormal social behavi... ORPHA:177907
Leber Congenital Amaurosis 1
Eye poking OMIM:204000
Intellectual Developmental Disorder With Autism And Dysmorphic Facies
Recurrent hand flapping OMIM:620021
Pelvis-Shoulder Dysplasia
Hydrocephalus, Spina bifida, Hydranencephaly ORPHA:2839
21Q22.11Q22.12 Microdeletion Syndrome
Self-injurious behavior, Stereotypical body rocking, Inappropriate crying, Microcephaly, Tongue t... ORPHA:261323
48,Xxxy Syndrome
Abnormal social behavior, Anxiety, Tremor, Abnormal aggressive, impulsive or violent behavior, Ir... ORPHA:96263
Kleefstra Syndrome 1
Motor stereotypy, Microcephaly, Apathy, Aggressive behavior OMIM:610253
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Ataxia, Cerebral cortical atrophy, Dysmetria, Abnormal social behavior, Intention tremor, Abnorma... ORPHA:314647
Rauch-Steindl Syndrome
Motor stereotypy, Microcephaly, Anxiety, Aggressive behavior OMIM:619695
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Isometric tremor, Ataxia, Tics, Spasticity, Emotional lability, Impaired social interactions, Hyp... OMIM:619475
Oculocerebrodental Syndrome
Dysplastic corpus callosum, Focal white matter lesions ORPHA:557003
Wiedemann-Steiner Syndrome
Motor stereotypy, Microcephaly, Anxiety, Abnormal corpus callosum morphology, Psychomotor deterio... ORPHA:319182
Combined Oxidative Phosphorylation Deficiency 53
Dysplastic corpus callosum, Secondary microcephaly, Spasticity OMIM:619423
Congenital Disorder Of Glycosylation, Type Iia
Motor stereotypy, Hypertonia, Self-mutilation, Microcephaly, Aggressive behavior OMIM:212066
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Motor stereotypy, Ataxia, Cataplexy, Cerebral cortical atrophy, Hypoplasia of the corpus callosum... ORPHA:496641
Pagod Syndrome
Hypoplastic left heart, Situs inversus totalis, Meningocele, Encephalocele, Spina bifida ORPHA:991
Pitt-Hopkins Syndrome
Motor stereotypy, Self-injurious behavior, Microcephaly, Hypoplasia of the corpus callosum, Gait ... OMIM:610954
White-Sutton Syndrome
Motor stereotypy, Cerebral cortical atrophy, Self-injurious behavior, Microcephaly, Hypoplasia of... ORPHA:468678
Neu-Laxova Syndrome 2
Spina bifida, Intrauterine growth retardation OMIM:616038
Bainbridge-Ropers Syndrome
Motor stereotypy, Hypertonia, Self-injurious behavior, Recurrent hand flapping, Microcephaly, Hyp... OMIM:615485
Shukla-Vernon Syndrome
Motor stereotypy OMIM:301029
Vacterl With Hydrocephalus
Hydrocephalus, Aqueductal stenosis, Arrhinencephaly, Spina bifida, Intrauterine growth retardation ORPHA:3412
Trisomy 18
Atrial septal defect, Holoprosencephaly, Anencephaly, Ventricular septal defect, Spina bifida, In... ORPHA:3380
Intellectual Developmental Disorder, Autosomal Dominant 22
Stereotypical hand wringing, Microcephaly, Agenesis of corpus callosum OMIM:612337
Kohlschutter-Tonz Syndrome-Like
Motor stereotypy, Ataxia, Myoclonus, Microcephaly, Stereotypical hand wringing, Tremor, Spasticit... OMIM:619229
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Motor stereotypy, Self-injurious behavior, Microcephaly, Anxiety, Partial agenesis of the corpus ... OMIM:619512
Spinal Arteriovenous Metameric Syndrome
Abnormality of the spinal cord, Spinal arteriovenous malformation ORPHA:53721
Proximal 16P11.2 Microdeletion Syndrome
Motor stereotypy, Speech apraxia, Choreoathetosis, Paroxysmal dyskinesia, Impaired social interac... ORPHA:261197
D-Glyceric Aciduria
Cerebral cortical atrophy, Opisthotonus, Myoclonus, Microcephaly, Tongue thrusting, Spasticity, S... OMIM:220120
Niemann-Pick Disease, Type C2
Motor stereotypy, Ataxia, Cataplexy, Neurofibrillary tangles, Spasticity, Dementia OMIM:607625
Coffin-Siris Syndrome 7
Motor stereotypy OMIM:618027
Lumbar Syndrome
Myelomeningocele, Spina bifida ORPHA:83628
Fibular Hemimelia
Spina bifida, Abnormal heart morphology ORPHA:93323
Intellectual Developmental Disorder, Autosomal Dominant 34
Motor stereotypy, Secondary microcephaly OMIM:616351
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Hypertonia, Stereotypical hand wringing OMIM:619854
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Dysplastic corpus callosum, Spasticity OMIM:618810
3P25.3 Microdeletion Syndrome
Motor stereotypy, Ataxia, Cerebral white matter atrophy ORPHA:435638
7Q11.23 Microduplication Syndrome
Motor stereotypy, Self-injurious behavior, Dysmetria, Anxiety, Aggressive behavior, Simplified gy... ORPHA:96121
Rett Syndrome
Motor stereotypy, Bradykinesia, Stereotypical hand wringing, Primary microcephaly, Limb apraxia, ... ORPHA:778
Optic Atrophy-Intellectual Disability Syndrome
Spasticity, Repetitive compulsive behavior, Hypoplasia of the corpus callosum ORPHA:401777
X-Linked Cerebral Adrenoleukodystrophy
Myelopathy, Abnormality of the spinal cord ORPHA:139396
Developmental And Epileptic Encephalopathy 2
Motor stereotypy, Myoclonus, Progressive microcephaly, Poor eye contact OMIM:300672
Focal Dermal Hypoplasia
Abnormal cardiac septum morphology, Ventricular septal defect, Patent ductus arteriosus, Umbilica... ORPHA:2092
Neu-Laxova Syndrome 1
Intrauterine growth retardation, Short umbilical cord, Hydranencephaly, Small placenta, Ventricul... OMIM:256520
Kapur-Toriello Syndrome
Pachygyria, Dysplastic corpus callosum, Polymicrogyria ORPHA:2328
Trisomy 20P
Spina bifida, Umbilical hernia ORPHA:261318
Van Esch-O'Driscoll Syndrome
Motor stereotypy, Impulsivity, Poor eye contact, Cerebral atrophy, Unilateral vocal cord paralysi... OMIM:301030
Dihydropyrimidine Dehydrogenase Deficiency
Hypertonia, Cerebral atrophy, Abnormal social behavior, Microcephaly, Hyperintensity of cerebral ... ORPHA:1675
Basal Cell Nevus Syndrome
Hydrocephalus, Spina bifida, Cardiac rhabdomyoma, Cardiac fibroma OMIM:109400
Solitary Bone Cyst
Abnormality of the spinal cord ORPHA:83468
Leber Congenital Amaurosis 8
Eye poking OMIM:613835
Transketolase Deficiency
Motor stereotypy, Self-injurious behavior ORPHA:488618
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Patent ductus arteriosus, Spina bifida, Tethered cord, Atrioventricular canal defect OMIM:619480
Waardenburg Syndrome, Type 1
Myelomeningocele, Spina bifida OMIM:193500
Bainbridge-Ropers Syndrome
Hypertonia, Microcephaly, Recurrent hand flapping, Abnormal cerebral white matter morphology ORPHA:352577
Intellectual Developmental Disorder, Autosomal Recessive 71
Motor stereotypy OMIM:618504
Vater/Vacterl Association
Intrauterine growth retardation, Tethered cord, Tetralogy of Fallot, Ventricular septal defect, P... OMIM:192350
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Bicuspid aortic valve, Atrioventricular canal defect, Tetralogy of Fallot, Ventricular septal def... ORPHA:508498
22Q11.2 Deletion Syndrome
Tricuspid atresia, Abnormal pulmonary valve morphology, Hydrocephalus, Atrial septal defect, Abno... ORPHA:567
Megalocornea-Intellectual Disability Syndrome
Motor stereotypy, Microcephaly, Ataxia ORPHA:2479
Developmental And Epileptic Encephalopathy 100
Motor stereotypy, Cerebral atrophy, Myoclonus, Chorea, Polymicrogyria, Choreoathetosis, Gait atax... OMIM:619777
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Ataxia, Dysplastic corpus callosum, Pseudobulbar paralysis, Intention tremor, Anxiety, Hypoplasia... ORPHA:466791
Cystinosis
Motor stereotypy, Abnormal pyramidal sign ORPHA:213
Leber Congenital Amaurosis 9
Eye poking OMIM:608553
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Thick corpus callosum, Ataxia, Dysplastic corpus callosum, Impulsivity, Tremor, Speech apraxia, A... OMIM:300967
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome
Motor stereotypy, Speech apraxia ORPHA:529965
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Motor stereotypy, Hypertonia, Opisthotonus, Microcephaly, No social interaction, Hypoplasia of th... ORPHA:508533
Cloacal Exstrophy
Myelomeningocele, Spina bifida ORPHA:93929
Thrombocytopenia-Absent Radius Syndrome
Atrial septal defect, Atrioventricular canal defect, Tetralogy of Fallot, Ventricular septal defe... OMIM:274000
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Motor stereotypy, Agoraphobia, Abnormal fear/anxiety-related behavior, Social and occupational de... ORPHA:353281
Nail-Patella Syndrome
Spina bifida OMIM:161200
Neu-Laxova Syndrome
Spina bifida, Intrauterine growth retardation ORPHA:2671
Dilated Cardiomyopathy With Ataxia
Ataxia, Action tremor, Repetitive compulsive behavior, Lower limb spasticity, Bilateral basal gan... ORPHA:66634
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Motor stereotypy, Cerebral cortical atrophy, Microcephaly, Anxiety, Hypoplasia of the corpus call... ORPHA:464311
Tuberous Sclerosis Complex
Impulsivity, Self-injurious behavior, Cortical tubers, Abnormal social behavior, Depression, Anxi... ORPHA:805
Helsmoortel-Van Der Aa Syndrome
Motor stereotypy OMIM:615873
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Secondary microcephaly, Tongue thrusting, Cessation of head growth ORPHA:98795
Dyrk1A-Related Intellectual Disability Syndrome
Motor stereotypy, Cerebral cortical atrophy, Microcephaly, Anxiety, Hypoplasia of the corpus call... ORPHA:464306
Fanconi Anemia
Abnormal cardiac septum morphology, Hydrocephalus, Atrial septal defect, Hypertrophic cardiomyopa... ORPHA:84
2Q37 Microdeletion Syndrome
Motor stereotypy, Microcephaly ORPHA:1001
Hydroxykynureninuria
Motor stereotypy, Hypertonia ORPHA:79155
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Dysplastic corpus callosum ORPHA:363444
Jacobsen Syndrome
Aortic valve stenosis, Hypoplastic left heart, Ventricular septal defect, Spina bifida, Intrauter... ORPHA:2308
Joubert Syndrome 6
Motor stereotypy, Oculomotor apraxia, Ataxia OMIM:610688
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Motor stereotypy, Agoraphobia, Abnormal fear/anxiety-related behavior, Social and occupational de... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Motor stereotypy, Agoraphobia, Abnormal fear/anxiety-related behavior, Social and occupational de... ORPHA:353277
Koolen-De Vries Syndrome Due To A Point Mutation
Hydrocephalus, Bicuspid aortic valve, Atrial septal defect, Pulmonic stenosis, Ventricular septal... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hydrocephalus, Bicuspid aortic valve, Atrial septal defect, Pulmonic stenosis, Ventricular septal... ORPHA:363958
Split Cord Malformation
Myelomeningocele, Hydrocephalus, Cervical spina bifida, Tethered cord, Spinal cord tumor, Meningo... ORPHA:573278
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Motor stereotypy, Head-banging, Self-injurious behavior OMIM:619575
Trichotillomania
Hair-pulling OMIM:613229
Dpagt1-Cdg
Hypertonia, Head-banging, Ataxia, Cerebral cortical atrophy, Stereotypical body rocking, Microcep... ORPHA:86309
Mucopolysaccharidosis Type 2
Motor stereotypy, Impulsivity, Cognitive impairment, Mental deterioration, Progressive neurologic... ORPHA:580
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Motor stereotypy, Microcephaly, Cerebral atrophy, Spasticity OMIM:301040
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Motor stereotypy, Self-mutilation OMIM:619005
White-Kernohan Syndrome
Dysplastic corpus callosum, Anxiety OMIM:619426
Cardiofaciocutaneous Syndrome 1
Hypertonia, Cerebral cortical atrophy, Hypoplasia of the frontal lobes, Tongue thrusting, Oculomo... OMIM:115150
Hallermann-Streiff Syndrome
Spina bifida OMIM:234100
Neurofibromatosis, Type I
Hydrocephalus, Spina bifida, Aqueductal stenosis OMIM:162200
Mosaic Trisomy 20
Abnormal mitral valve morphology, Ventricular septal defect, Dysplastic tricuspid valve, Intraute... ORPHA:1724
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Abnormality of the spinal cord ORPHA:88628
Fg Syndrome Type 1
Aplasia/Hypoplasia of the corpus callosum, Abnormal social behavior ORPHA:93932
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Motor stereotypy, Aggressive behavior OMIM:301066
Campomelic Dysplasia
Spinal dysraphism, Spina bifida, Hydrocephalus, Abnormal heart morphology OMIM:114290
Mend Syndrome
Limb hypertonia, Aggressive behavior, Hypoplasia of the corpus callosum, Abnormal social behavior ORPHA:401973
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
Hypoplasia of the corpus callosum, Aggressive behavior, Tongue thrusting, Hemiparesis ORPHA:369950
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Motor stereotypy, Ataxia, Poor gross motor coordination, Cerebral cortical atrophy, Hand tremor, ... OMIM:614756
Tessadori-Van Haaften Neurodevelopmental Syndrome 3
Ataxia, Impulsivity, Self-mutilation, Spastic diplegia, Limb hypertonia, Cerebral palsy, Microcep... OMIM:619950
Adrenomyeloneuropathy
Dorsal column degeneration, Atrophy of the spinal cord, Abnormality of the spinal cord ORPHA:139399
Rubinstein-Taybi Syndrome 1
Atrial septal defect, Hypoplastic left heart, Spina bifida occulta, Ventricular septal defect, Mi... OMIM:180849
Kinsship Syndrome
Motor stereotypy, Microcephaly, Myoclonus, Primary microcephaly, Spastic tetraparesis OMIM:619297
Acute Disseminated Encephalomyelitis
Myelitis, Abnormality of the spinal cord ORPHA:83597
1P36 Deletion Syndrome
Motor stereotypy, Cerebral cortical atrophy, Hemiplegia/hemiparesis, Self-injurious behavior, Mic... ORPHA:1606
Tetrasomy 9P
Abnormal cardiac septum morphology, Abnormal mitral valve morphology, Hydrocephalus, Oligospermia... ORPHA:3310
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Motor stereotypy, Hypertonia, Poor eye contact, Microcephaly, Hypoplasia of the corpus callosum, ... OMIM:301044
Hypotonia, Ataxia, And Delayed Development Syndrome
Motor stereotypy, Ataxia, Dysmetria, Microcephaly, Truncal ataxia, Speech apraxia, Gait ataxia OMIM:617330
Aicardi Syndrome
Spina bifida OMIM:304050
Ogden Syndrome
Torticollis, Hypertonia, Motor stereotypy, Cerebral atrophy, Microcephaly, Irritability OMIM:300855
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Motor stereotypy, Stereotypical body rocking, Microcephaly, Hypoplasia of the corpus callosum, Ga... ORPHA:513456
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Hypertonia, Ataxia, Cerebral cortical atrophy, Microcephaly, Anxiety, Stereotypical hand wringing... ORPHA:268261
Genitourinary And/Or Brain Malformation Syndrome
Dysplastic corpus callosum, Absent septum pellucidum, Polymicrogyria, Secondary microcephaly, Col... OMIM:618820
Zttk Syndrome
Dysplastic corpus callosum, Hypoplasia of the corpus callosum, Abnormal cerebral white matter mor... OMIM:617140
Exstrophy-Epispadias Complex
Hydrocephalus, Spina bifida, Abnormal heart morphology ORPHA:322
Oculocerebrorenal Syndrome Of Lowe
Motor stereotypy, Self-injurious behavior, Depression, Anxiety, Clonus ORPHA:534
Monosomy 22Q13.3
Agenesis of corpus callosum, Hair-pulling ORPHA:48652
Witteveen-Kolk Syndrome
Conspicuously happy disposition, Dysplastic corpus callosum, Microcephaly, Anxiety, Cortical dysp... OMIM:613406
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Motor stereotypy, Cerebral atrophy, Poor coordination, Spastic diplegia, Microcephaly, Hypoplasia... OMIM:309590
Norrie Disease
Motor stereotypy, Hypertonia, Cerebral cortical atrophy, Self-injurious behavior, Microcephaly, A... ORPHA:649
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Motor stereotypy, Microcephaly, Hypoplasia of the corpus callosum OMIM:618653
Mgat2-Cdg
Progressive microcephaly, Stereotypical hand wringing ORPHA:79329
Lowe Oculocerebrorenal Syndrome
Motor stereotypy, Periventricular cysts, Aggressive behavior OMIM:309000
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Dysplastic corpus callosum, Hypoplasia of the corpus callosum, Polymicrogyria, Lateral ventricle ... ORPHA:500150
Arboleda-Tham Syndrome
Motor stereotypy, Microcephaly, Primary microcephaly, Lower limb hypertonia OMIM:616268
Mowat-Wilson Syndrome
Motor stereotypy, Happy demeanor, Ataxia, Focal white matter lesions, Large basal ganglia, Microc... ORPHA:2152
Wolf-Hirschhorn Syndrome
Motor stereotypy, Absent septum pellucidum, Cavum septum pellucidum, Microcephaly, Periventricula... OMIM:194190
Amoebiasis Due To Free-Living Amoebae
Myocardial necrosis, Abnormality of the spinal cord ORPHA:68
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Motor stereotypy, Happy demeanor, Poor fine motor coordination, Large basal ganglia, Focal hypoin... ORPHA:261537
Primrose Syndrome
Motor stereotypy, Ataxia, Self-injurious behavior, Cerebral calcification, Anxiety, Hypoplasia of... OMIM:259050
Williams Syndrome
Overfriendliness, Ataxia, Cerebral cortical atrophy, Dysmetria, Abnormal social behavior, Depress... ORPHA:904
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Motor stereotypy, Happy demeanor, Poor fine motor coordination, Large basal ganglia, Focal hypoin... ORPHA:261552
Superficial Siderosis
Atrophy of the spinal cord, Abnormality of the spinal cord ORPHA:247245
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Motor stereotypy, Microcephaly OMIM:616682
Coffin-Siris Syndrome 12
Motor stereotypy, Microcephaly, Hippocampal atrophy OMIM:619325
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Exaggerated startle response, Myoclonus, Stereotypical hand wringing, Hypoplasia of the corpus ca... ORPHA:438213
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Impulsivity, Stereotypical body rocking, Ischemic stroke, Periventricular white matter hyperinten... OMIM:619503
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Motor stereotypy, Microcephaly, Exaggerated startle response OMIM:619522
Primary Sjögren Syndrome
Abnormality of the spinal cord ORPHA:289390
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