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Gene: Kif2a MGI:108390

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Gene Summary

Name:
kinesin family member 2A
Synonyms:
Kif2,  Kns2,  M-kinesin

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
hyperactivity Kif2aem1(IMPC)Mbp HET Early adult 7.75×10-06
preweaning lethality, complete penetrance Kif2aem1(IMPC)Mbp HOM   Early adult 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

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Kif2a 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 Kif2a by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Cortical Dysplasia, Complex, With Other Brain Malformations 3
Subcortical band heterotopia, Gray matter heterotopia, Lissencephaly, Pachygyria, Agyria OMIM:615411

The table below shows human diseases predicted to be associated to Kif2a by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Schizophrenia 15
Hyperactivity OMIM:613950
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Attention Deficit-Hyperactivity Disorder 8
Attention deficit hyperactivity disorder OMIM:619957
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Autism, Susceptibility To, X-Linked 4
Motor tics, Attention deficit hyperactivity disorder, Impulsivity, Aggressive behavior OMIM:300830
Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7
Attention deficit hyperactivity disorder OMIM:613003
Gilles De La Tourette Syndrome
Aggressive behavior, Phonic tics, Attention deficit hyperactivity disorder, Compulsive behaviors,... OMIM:137580
Autism, Susceptibility To, 20
Attention deficit hyperactivity disorder, Compulsive behaviors OMIM:618830
Joubert Syndrome 13
Molar tooth sign on MRI, Pachygyria, Cerebellar vermis hypoplasia OMIM:614173
Lissencephaly 1
Subcortical band heterotopia, Gray matter heterotopia, Hypoplasia of the brainstem, Lissencephaly... OMIM:607432
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Cortical Dysplasia, Complex, With Other Brain Malformations 10
Hypoplasia of the pons, Hypoplasia of the brainstem, Lissencephaly, Cerebellar hypoplasia, Perive... OMIM:618677
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Lissencephaly 3
Cerebellar vermis hypoplasia, Agyria, Periventricular laminar heterotopia, Gray matter heterotopi... OMIM:611603
Chudley-Mccullough Syndrome
Dysplastic corpus callosum, Hydrocephalus, Partial agenesis of the corpus callosum, Gray matter h... OMIM:604213
Intellectual Developmental Disorder, Autosomal Recessive 2
Self-injurious behavior, Attention deficit hyperactivity disorder OMIM:607417
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Bruxism, Aggressive behavior OMIM:615493
Smith-Magenis syndrome
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation DECIPHER:8
Asperger Syndrome, Susceptibility To, 1
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:608631
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Occipital encephalocele, Type II lissencephaly, Hydrocephalus, Gray matter heterotopia, Hypoplasi... ORPHA:352682
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Septopreoptic Holoprosencephaly
Abnormal midbrain morphology, Impulsivity, Hypoplasia of the pons, Perisylvian polymicrogyria, Dy... ORPHA:280195
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect, Type II lissencephaly, Cerebellar dysplasia OMIM:615041
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Bruxism, Aggressive behavior ORPHA:356996
Polymicrogyria Due To Tubb2B Mutation
Cerebellar atrophy, Hypoplasia of the pons, Perisylvian polymicrogyria, Abnormal brainstem morpho... ORPHA:300573
Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity
Cerebellar atrophy, Hypoplasia of the brainstem, Lissencephaly, Pachygyria, Polymicrogyria, Ventr... OMIM:618730
Microlissencephaly
Cerebellar atrophy, Subcortical heterotopia, Periventricular heterotopia, Simplified gyral patter... ORPHA:1083
Cortical Dysplasia, Complex, With Other Brain Malformations 7
Cerebellar vermis hypoplasia, Unilateral polymicrogyria, Partial agenesis of the corpus callosum,... OMIM:610031
Joubert Syndrome 30
Cerebellar atrophy, Dandy-Walker malformation, Gray matter heterotopia, Molar tooth sign on MRI, ... OMIM:617622
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Ventriculomegaly, Agenesis of cerebellar vermis, Type II lissencephaly, Hypoplasia of the pons, H... OMIM:613153
Lissencephaly 5
Occipital encephalocele, Cerebellar vermis hypoplasia, Hydrocephalus, Subcortical band heterotopi... OMIM:615191
Orofaciodigital Syndrome Xv
Molar tooth sign on MRI, Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Ventriculomegaly OMIM:617127
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Abnormal repetitive mannerisms OMIM:300271
Pontocerebellar Hypoplasia, Type 15
Death in infancy, Hydrocephalus, Partial agenesis of the corpus callosum, Simplified gyral patter... OMIM:619302
Hydrolethalus Syndrome 2
Hydrocephalus, Anencephaly, Molar tooth sign on MRI, Agenesis of corpus callosum, Ventriculomegaly OMIM:614120
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... OMIM:309548
Joubert Syndrome 25
Molar tooth sign on MRI, Cerebellar hypoplasia OMIM:616781
Fraxe Intellectual Disability
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... ORPHA:100973
Meckel Syndrome 13
Molar tooth sign on MRI, Occipital encephalocele, Cerebellar hypoplasia OMIM:617562
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations
Cerebellar vermis hypoplasia, Periventricular heterotopia, Simplified gyral pattern, Hypoplasia o... OMIM:618273
Coach Syndrome 2
Molar tooth sign on MRI, Hydrocephalus, Cerebellar vermis hypoplasia, Agenesis of corpus callosum OMIM:619111
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Molar tooth sign on MRI, Agenesis of corpus callosum ORPHA:166024
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity OMIM:616311
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Hydrocephalus, Abnormality of neuronal migration, Attention deficit hyperactivity disorder, Abnor... OMIM:618709
Joubert Syndrome 36
Molar tooth sign on MRI OMIM:618763
Gómez-López-Hernández Syndrome
Abnormal cerebellum morphology, Hydrocephalus, Cerebellar vermis hypoplasia, Abnormal brainstem m... ORPHA:1532
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Hyperactivity, Aggressive behavior OMIM:619031
Periventricular Nodular Heterotopia 8
Periventricular nodular heterotopia, Cerebellar vermis atrophy OMIM:618185
Joubert Syndrome 10
Molar tooth sign on MRI, Cerebellar vermis hypoplasia OMIM:300804
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder OMIM:301008
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity
Periventricular nodular heterotopia, Cerebellar hypoplasia OMIM:618572
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Focal polymicrogyria, Partial agenesis of... OMIM:615771
Pontocerebellar Hypoplasia, Type 14
Death in infancy, Hypoplasia of the pons, Simplified gyral pattern, Hypoplasia of the brainstem, ... OMIM:619301
Isolated Lissencephaly Type 1 Without Known Genetic Defects
Enlarged sylvian cistern, Gray matter heterotopia, Pachygyria, Agyria, Ventriculomegaly ORPHA:1084
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Cerebellar atrophy, Periventricular heterotopia, Hypoplasia of the pons, Partial agenesis of the ... OMIM:616171
Joubert Syndrome 32
Molar tooth sign on MRI, Abnormal cerebellum morphology, Polymicrogyria OMIM:617757
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Cerebellar dysplasia, Hypoplasia of the pons, Hydrocephalus, Hypoplasia of the brainstem, Cerebel... OMIM:615181
Joubert Syndrome 3
Enlarged fossa interpeduncularis, Frontal polymicrogyria, Cerebellar vermis hypoplasia, Lateral v... OMIM:608629
Tubulinopathy-Associated Dysgyria
Cerebellar vermis hypoplasia, Hypoplasia of the pons, Abnormal brainstem morphology, Dysgyria, At... ORPHA:467166
Lissencephaly, X-Linked, 1
Death in infancy, Gray matter heterotopia, Lissencephaly, Pachygyria, Agenesis of corpus callosum... OMIM:300067
Joubert Syndrome 4
Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Cerebellar vermis hypoplasia, Th... OMIM:609583
Joubert Syndrome 16
Molar tooth sign on MRI, Encephalocele, Dandy-Walker malformation OMIM:614465
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Abnormal cerebellum morphology, Agenesis of corpus callosum, Abnormal brainstem morphology, Ventr... ORPHA:255182
Joubert Syndrome 31
Molar tooth sign on MRI, Ventriculomegaly OMIM:617761
Congenital Muscular Dystrophy With Cerebellar Involvement
Dilated fourth ventricle, Fusion of the cerebellar hemispheres, Occipital encephalocele, Type II ... ORPHA:370959
Cortical Dysplasia, Complex, With Other Brain Malformations 3
Subcortical band heterotopia, Gray matter heterotopia, Lissencephaly, Pachygyria, Agyria OMIM:615411
Joubert Syndrome 20
Molar tooth sign on MRI, Self-mutilation, Aggressive behavior OMIM:614970
Bilateral Frontoparietal Polymicrogyria
Cerebellar vermis hypoplasia, Hypoplasia of the pons, Abnormal cerebellum morphology, Hypoplasia ... ORPHA:101070
Joubert Syndrome 18
Molar tooth sign on MRI, Occipital encephalocele, Agenesis of cerebellar vermis, Agenesis of corp... OMIM:614815
Joubert Syndrome 6
Dilated fourth ventricle, Enlarged fossa interpeduncularis, Cerebellar vermis hypoplasia, Hypopla... OMIM:610688
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines OMIM:301076
Acalvaria
Spina bifida, Hydrocephalus, Abnormality of neuronal migration, Holoprosencephaly, Aplasia/Hypopl... ORPHA:945
Sub-Cortical Nodular Heterotopia
Polymicrogyria, Subcortical heterotopia, Agenesis of corpus callosum, Abnormality of neuronal mig... ORPHA:101029
Developmental And Epileptic Encephalopathy 104
Self-injurious behavior, Hyperactivity, Agitation OMIM:619970
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Hypoplasia of the brainstem, Pachygyria, Cerebellar hypoplasia, Abnormality of neuronal migration OMIM:608840
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Hyperactivity, Impulsivity, Aggressive behavior, Polymicrogyria, Simplified gyral pattern, Abnorm... OMIM:604317
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Encephalocele, Death in infancy, Ventriculomegaly, Subcortical heterotopia, Agyria, Type II lisse... OMIM:614643
Lissencephaly 8
Occipital encephalocele, Type II lissencephaly, Retrocerebellar cyst, Hypoplasia of the brainstem... OMIM:617255
Band Heterotopia
Hydrocephalus, Subcortical band heterotopia, Gray matter heterotopia, Lateral ventricle dilatatio... OMIM:600348
Joubert Syndrome 9
Molar tooth sign on MRI, Encephalocele, Ventriculomegaly OMIM:612285
Ravine Syndrome
Abnormal brainstem morphology, Anorexia, Atrophy/Degeneration affecting the brainstem ORPHA:99852
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Ventriculomegaly, Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Hydrocephalus, Abn... ORPHA:163961
Meckel Syndrome, Type 10
Dilated fourth ventricle, Occipital encephalocele, Anencephaly, Cerebellar hypoplasia, Molar toot... OMIM:614175
Meckel Syndrome, Type 4
Encephalocele, Agenesis of cerebellar vermis, Hydrocephalus, Meningocele, Anencephaly, Molar toot... OMIM:611134
Lissencephaly 6 With Microcephaly
Cerebellar atrophy, Periventricular heterotopia, Partial agenesis of the corpus callosum, Simplif... OMIM:616212
Joubert Syndrome 22
Molar tooth sign on MRI, Agenesis of cerebellar vermis OMIM:615665
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder OMIM:617113
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Hypoplasia of the brainstem, Colpocephaly, Polymicrogyria, Agenesis o... ORPHA:250972
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Cerebellar vermis hypoplasia, Perisylvian polymicrogyria, Cerebellar hypoplasia, Ventriculomegaly... OMIM:616531
Congenital Muscular Dystrophy Without Intellectual Disability
Cerebellar atrophy, Gray matter heterotopia, Pachygyria, Ventriculomegaly, Cerebellar cyst ORPHA:370980
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hypoplasia of the pons, Hydrocephalus, Agenesis of corpus callosum, Midline brainstem cleft OMIM:617542
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Cerebellar dysplasia, Dilated fourth ventricle, Elongated superior cerebellar peduncle, Abnormal ... ORPHA:370022
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy
Cerebellar vermis hypoplasia, Abnormal brainstem morphology, Abnormal pons morphology, Polymicrog... ORPHA:370997
Pyruvate Dehydrogenase E1-Beta Deficiency
Periventricular heterotopia, Hypoplasia of the brainstem, Cerebellar hypoplasia, Pachygyria, Agen... ORPHA:255138
Joubert Syndrome 15
Molar tooth sign on MRI, Exencephaly OMIM:614464
Microphthalmia-Brain Atrophy Syndrome
Tongue thrusting, Lateral ventricle dilatation, Abnormal pons morphology, Atrophy/Degeneration af... ORPHA:77299
Lissencephaly Due To Tuba1A Mutation
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Agyria, Dysplastic corpus callosum, Parti... ORPHA:171680
Pontocerebellar Hypoplasia Type 10
Abnormal brainstem morphology, Simplified gyral pattern ORPHA:411493
Joubert Syndrome With Renal Defect
Encephalocele, Cerebellar vermis hypoplasia, Hydrocephalus, Molar tooth sign on MRI, Polymicrogyr... ORPHA:220497
Joubert Syndrome 40
Molar tooth sign on MRI OMIM:619582
Lennox-Gastaut Syndrome
Hyperactivity, Abnormal brainstem morphology, Aggressive behavior ORPHA:2382
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Cerebellar vermis hypoplasia, Hydrocephalus, Hypoplasia of the brainstem, Cerebellar hypoplasia, ... OMIM:613155
Joubert Syndrome 33
Molar tooth sign on MRI OMIM:617767
Chiari Malformation Type Ii
Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Gray matter heterotopia, Chia... OMIM:207950
Joubert Syndrome 7
Molar tooth sign on MRI, Encephalocele, Hypoplasia of the brainstem, Brainstem dysplasia OMIM:611560
Intellectual Developmental Disorder, Autosomal Dominant 48
Dilated fourth ventricle, Hyperactivity, Cerebellar vermis hypoplasia, Hypoplasia of the brainste... OMIM:617751
Joubert Syndrome 35
Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Cerebellar vermis hypoplasia OMIM:618161
Periventricular Heterotopia With Microcephaly, Autosomal Recessive
Periventricular nodular heterotopia, Periventricular heterotopia OMIM:608097
Joubert Syndrome 28
Molar tooth sign on MRI OMIM:617121
Intellectual Developmental Disorder, Autosomal Dominant 67
Motor tics, Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder OMIM:619927
Hartnup Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:234500
Joubert Syndrome With Ocular Defect
Encephalocele, Cerebellar vermis hypoplasia, Hydrocephalus, Molar tooth sign on MRI, Polymicrogyr... ORPHA:220493
Spinocerebellar Ataxia Type 2
Abnormal substantia nigra morphology, Abnormal cortical gyration, Cerebellar Purkinje layer atrop... ORPHA:98756
Poretti-Boltshauser Syndrome
Dilated fourth ventricle, Cerebellar dysplasia, Cerebellar vermis hypoplasia, Gray matter heterot... OMIM:615960
Joubert Syndrome With Oculorenal Defect
Encephalocele, Cerebellar vermis hypoplasia, Hydrocephalus, Abnormality of neuronal migration, Mo... ORPHA:2318
Hyperprolinemia, Type I
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior OMIM:239500
Glycine Encephalopathy 1
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior OMIM:605899
Lissencephaly Syndrome, Norman-Roberts Type
Cerebellar atrophy, 4-layered lissencephaly, Abnormality of neuronal migration, Microlissencephal... ORPHA:89844
Slc35A2-Cdg
Cerebellar atrophy, Abnormal midbrain morphology, Lateral ventricle dilatation, Atrophy/Degenerat... ORPHA:356961
Intellectual Developmental Disorder, X-Linked 111
Hyperactivity, Phonic tics, Compulsive behaviors, Aggressive behavior OMIM:301107
Nodular Neuronal Heterotopia
Abnormality of neuronal migration ORPHA:2149
Joubert Syndrome 27
Molar tooth sign on MRI OMIM:617120
Joubert Syndrome 14
Encephalocele, Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Hydrocephalus, Mening... OMIM:614424
Joubert Syndrome 1
Enlarged fossa interpeduncularis, Hyperactivity, Cerebellar vermis hypoplasia, Agenesis of cerebe... OMIM:213300
Coach Syndrome 3
Molar tooth sign on MRI OMIM:619113
Orofaciodigital Syndrome Xvi
Molar tooth sign on MRI, Gray matter heterotopia, Ventriculomegaly OMIM:617563
Al-Gazali-Bakalinova Syndrome
Molar tooth sign on MRI, Agenesis of corpus callosum OMIM:607131
Joubert Syndrome 2
Encephalocele, Enlarged fossa interpeduncularis, Agenesis of cerebellar vermis, Brainstem dysplas... OMIM:608091
Neurocutaneous Melanocytosis
Death in infancy, Meningocele, Abnormality of neuronal migration, Chiari malformation, Aplasia/Hy... ORPHA:2481
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Cerebellar dysplasia, Encephalocele, Death in infancy, Type II lissencephaly, Partial absence of ... OMIM:613150
Bilateral Striopallidodentate Calcinosis
Abnormality of neuronal migration, Ventriculomegaly ORPHA:1980
Lissencephaly 9 With Complex Brainstem Malformation
Cerebellar vermis hypoplasia, Hypoplasia of the pons, Hypoplasia of the brainstem, Cerebellar hem... OMIM:618325
Mismatch Repair Cancer Syndrome 4
Gray matter heterotopia, Agenesis of corpus callosum OMIM:619101
Leber Congenital Amaurosis
Encephalocele, Abnormality of neuronal migration, Aplasia/Hypoplasia of the cerebellar vermis ORPHA:65
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Ventriculomegaly, Hydrocephalus, Hypoplasia of the brainstem, Cerebellar hypoplasia, Hydranenceph... OMIM:225790
Lissencephaly 7 With Cerebellar Hypoplasia
Death in infancy, Lissencephaly, Cerebellar hypoplasia, Neonatal death, Agenesis of corpus callos... OMIM:616342
Adult Krabbe Disease
Abnormal pons morphology, Abnormal medulla oblongata morphology, Abnormal midbrain morphology ORPHA:206448
Hemimegalencephaly
Abnormal neuron morphology, Gray matter heterotopia, Pachygyria, Polymicrogyria, Ventriculomegaly ORPHA:99802
Duplication Of The Pituitary Gland
Encephalocele, Abnormal midbrain morphology, Abnormal hypothalamus morphology, Agenesis of corpus... ORPHA:314621
Walker-Warburg Syndrome
Ventriculomegaly, Abnormal cortical gyration, Hydrocephalus, Polymicrogyria, Abnormality of neuro... ORPHA:899
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
47,Xyy Syndrome
Hyperactivity, Impulsivity, Hydrocephalus, Abnormal brainstem morphology, Attention deficit hyper... ORPHA:8
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Cerebellar vermis hypoplasia, Hydrocephalus, Anencephaly, Hypoplasia of the brainstem, Molar toot... OMIM:616546
Joubert Syndrome 37
Molar tooth sign on MRI, Cerebellar vermis hypoplasia OMIM:619185
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Aplasia/Hypoplasia of the cerebellum, Abnormality of neuronal migration, Ventriculomegaly ORPHA:2772
Alkuraya-Kucinskas Syndrome
Ventriculomegaly, Hydrocephalus, Gray matter heterotopia, Hypoplasia of the brainstem, Lissenceph... OMIM:617822
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Cerebellar h... OMIM:619306
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Occipital encephalocele, Ventriculomegaly, Cerebellar vermis hypoplasia, Abnormal cerebellum morp... ORPHA:397715
Joubert Syndrome 39
Molar tooth sign on MRI, Occipital encephalocele, Cerebellar vermis hypoplasia OMIM:619562
Vici Syndrome
Death in infancy, Hypoplasia of the pons, Gray matter heterotopia, Cerebellar hypoplasia, Agenesi... ORPHA:1493
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Self-injurious behavior, Inappropri... OMIM:619827
Holoprosencephaly 14
Cerebellar atrophy, Ventriculomegaly, Alobar holoprosencephaly, Aqueductal stenosis, Periventricu... OMIM:619895
Oculocerebrocutaneous Syndrome
Gray matter heterotopia, Orbital encephalocele, Agenesis of corpus callosum, Dandy-Walker malform... OMIM:164180
Subependymal Nodular Heterotopia
Occipital encephalocele, Myelomeningocele, Meningocele, Partial agenesis of the corpus callosum, ... ORPHA:101030
Spinocerebellar Ataxia Type 1
Cerebellar atrophy, Loss of Purkinje cells in the cerebellar vermis, Atrophy/Degeneration affecti... ORPHA:98755
Periventricular Nodular Heterotopia 1
Gray matter heterotopia, Cerebellar hypoplasia, Abnormality of neuronal migration OMIM:300049
Intellectual Developmental Disorder, X-Linked 12
Abnormal cerebellum morphology, Cerebellar vermis hypoplasia, Abnormality of neuronal migration, ... OMIM:300957
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors ORPHA:101039
Coach Syndrome 1
Encephalocele, Occipital encephalocele, Cerebellar vermis hypoplasia, Aplasia/Hypoplasia of the c... OMIM:216360
Arima Syndrome
Dilated fourth ventricle, Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Brainstem ... OMIM:243910
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Communicating hydrocephalus, Occipital encephalocele, Ventriculomegaly, Agenesis of cerebellar ve... OMIM:615287
Cntnap2-Related Developmental And Epileptic Encephalopathy
Hyperactivity, Aggressive behavior, Abnormal neuron morphology, Abnormality of neuronal migration... ORPHA:163681
Autosomal Recessive Primary Microcephaly
Gray matter heterotopia, Pachygyria, Agenesis of corpus callosum, Ventriculomegaly ORPHA:2512
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior OMIM:615541
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617182
Cerebellar-Facial-Dental Syndrome
Abnormal midbrain morphology, Hypoplasia of the pons, Hypoplasia of the brainstem, Cerebellar hyp... ORPHA:444072
Orofaciodigital Syndrome Vi
Cerebellar vermis hypoplasia, Hypothalamic hamartoma, Molar tooth sign on MRI, Occipital meningoc... OMIM:277170
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Hypoplasia of the brainstem, Cerebellar hypoplasia, Polymicrogyria, Abnormal repetitive mannerism... ORPHA:500159
Joubert Syndrome 8
Molar tooth sign on MRI, Occipital encephalocele OMIM:612291
Joubert Syndrome 17
Molar tooth sign on MRI OMIM:614615
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Aplasia/Hypoplasia of the cerebellum, Abnormal brainstem morphology ORPHA:79279
Aprosencephaly And Cerebellar Dysgenesis
Absent mesencephalon, Poorly formed metencephalon, Aprosencephaly, Cerebellar dysplasia OMIM:601374
Amoebiasis Due To Free-Living Amoebae
Restlessness, Abnormal medulla oblongata morphology, Abnormal midbrain morphology, Abnormal brain... ORPHA:68
Joubert Syndrome 5
Occipital encephalocele, Agenesis of cerebellar vermis, Aggressive behavior, Aplasia/Hypoplasia o... OMIM:610188
Congenital Disorder Of Deglycosylation 2
Cerebellar vermis hypoplasia, Partial agenesis of the corpus callosum, Gray matter heterotopia, H... OMIM:619775
Cerebellofaciodental Syndrome
Aggressive behavior, Hypoplasia of the pons, Cerebellar hypoplasia, Hypoplasia of the midbrain, V... OMIM:616202
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Occipital encephalocele, Ventriculomegaly, Agyria, Type II lissencephaly, Meningoencephalocele, H... OMIM:236670
Joubert Syndrome 23
Dysplastic corpus callosum, Cerebellar dysplasia OMIM:616490
Japanese Encephalitis
Abnormal substantia nigra morphology, Abnormal midbrain morphology, Anorexia, Paucity of anterior... ORPHA:79139
Maternal Hyperthermia-Induced Birth Defects
Abnormality of neuronal migration ORPHA:2216
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Recurrent hand flapping, Self-mutilation, Aggressive behavior OMIM:615516
Symmetrical Thalamic Calcifications
Abnormality of neuronal migration ORPHA:1314
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Molar tooth sign on MRI, Lateral ventricle dilatation, Dysgenesis of the cerebellar vermis, Ventr... OMIM:619479
Molybdenum Cofactor Deficiency, Complementation Group C
Hypoplasia of the pons, Polymicrogyria, Cerebellar hypoplasia, Neonatal death OMIM:615501
Joubert Syndrome 38
Molar tooth sign on MRI, Inferior cerebellar vermis hypoplasia, Cerebellar vermis hypoplasia OMIM:619476
Pseudo-Torch Syndrome 2
Gray matter heterotopia, Lateral ventricle dilatation, Cerebellar hypoplasia, Polymicrogyria, Ven... OMIM:617397
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Freque... OMIM:620141
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Ventriculomegaly, Periventricular heterotopia, Hydrocephalus, Chiari type I malformation, Inappro... OMIM:618476
Orofaciodigital Syndrome Type 6
Molar tooth sign on MRI, Cerebellar vermis hypoplasia, Abnormality of neuronal migration, Hypotha... ORPHA:2754
Galloway-Mowat Syndrome
Aqueductal stenosis, Pachygyria, Abnormality of neuronal migration ORPHA:2065
Histidinemia
Hyperactivity ORPHA:2157
Brain Small Vessel Disease 2
Subcortical heterotopia, Polymicrogyria, Ventriculomegaly OMIM:614483
Orofaciodigital Syndrome Xiv
Occipital encephalocele, Cerebellar vermis hypoplasia, Periventricular heterotopia, Partial agene... OMIM:615948
Oculocerebral Hypopigmentation Syndrome, Preus Type
Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Abnormal brainstem morphology ORPHA:2720
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Cerebellar atrophy, Olivopontocerebellar hypoplasia, Hypoplasia of the pons, Periventricular hete... ORPHA:468631
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Encephalocele, Stillbirth, Cerebellar hypoplasia, Molar tooth sign on MRI, Dandy-Walker malformation OMIM:616300
Carnitine Palmitoyltransferase Ii Deficiency
Cerebellar vermis hypoplasia, Hydrocephalus, Abnormality of neuronal migration, Pachygyria, Agene... ORPHA:157
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Attention deficit hyperactivity disorder, Aggressive behavior OMIM:301013
Thanatophoric Dysplasia Type 2
Encephalocele, Hydrocephalus, Abnormality of neuronal migration, Holoprosencephaly, Ventriculomegaly ORPHA:93274
Joubert Syndrome
Encephalocele, Cerebellar vermis hypoplasia, Hydrocephalus, Abnormality of neuronal migration, Po... ORPHA:475
3C Syndrome
Death in infancy, Hydrocephalus, Abnormality of neuronal migration, Aplasia/Hypoplasia of the cer... ORPHA:7
Neu-Laxova Syndrome
Abnormal cortical gyration, Spina bifida, Pachygyria, Polymicrogyria, Abnormality of neuronal mig... ORPHA:2671
3-Hydroxyisobutyric Aciduria
Abnormality of neuronal migration OMIM:236795
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Communicating hydrocephalus, Hydrocephalus, Simplified gyral pattern, Gray matter heterotopia, Co... OMIM:615219
Glutathionuria
Gray matter heterotopia, Agenesis of corpus callosum OMIM:231950
Gangliocytoma
Abnormal cerebellum morphology, Abnormal brainstem morphology, Polyphagia ORPHA:251937
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Cerebellar vermis hypoplasia, Hydrocephalus, Abnormality of neuronal migration, Pachygyria, Agene... ORPHA:228308
Orofaciodigital Syndrome Type 14
Dilated fourth ventricle, Periventricular heterotopia, Partial agenesis of the corpus callosum, M... ORPHA:434179
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Aplasia/Hypoplasia of the cerebellum, Abnormality of neuronal migration ORPHA:2518
Desmosterolosis
Abnormal cortical gyration, Hydrocephalus, Abnormality of neuronal migration, Macrogyria, Lissenc... ORPHA:35107
Edinburgh Malformation Syndrome
Hydrocephalus, Abnormality of neuronal migration ORPHA:1895
Man1B1-Cdg
Polyphagia, Cerebellar hypoplasia, Periventricular heterotopia ORPHA:397941
Li-Ghorbani-Weisz-Hubshman Syndrome
Ventriculomegaly, Attention deficit hyperactivity disorder, Periventricular heterotopia OMIM:618974
Meckel Syndrome, Type 1
Dilated fourth ventricle, Occipital encephalocele, Ventriculomegaly, Hydrocephalus, Anencephaly, ... OMIM:249000
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Aggressive behavior, Periventricular heterotopia, Hydrocephalus, Self-injurious behavior, Colpoce... OMIM:619833
16P13.11 Microdeletion Syndrome
Abnormality of neuronal migration, Self-injurious behavior, Holoprosencephaly, Compulsive behavio... ORPHA:261236
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Abnormality of neuronal migration ORPHA:2204
Cerebrofacioarticular Syndrome
Cerebellar vermis hypoplasia, Dysplastic corpus callosum, Self-injurious behavior, Gray matter he... ORPHA:314679
Familial Acute Necrotizing Encephalopathy
Abnormal brainstem MRI signal intensity, Abnormal brainstem morphology ORPHA:88619
Familial Cerebral Saccular Aneurysm
Abnormal brainstem morphology ORPHA:231160
Coffin-Lowry Syndrome
Death in early adulthood, Abnormality of neuronal migration, Self-injurious behavior, Aplasia/Hyp... ORPHA:192
Thanatophoric Dysplasia
Gray matter heterotopia, Hydrocephalus, Ventriculomegaly ORPHA:2655
Cerebral Palsy, Spastic Quadriplegic, 3
Gray matter heterotopia, Dysphagia OMIM:617008
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Frontal polymicrogyria, Cerebellar vermis hypoplasia, Gray matter heterotopia, Neonatal death, Pa... OMIM:620024
Bohring-Opitz Syndrome
Gray matter heterotopia, Hypoplasia of the brainstem, Agenesis of corpus callosum, Dandy-Walker m... OMIM:605039
Periventricular Nodular Heterotopia 7
Gray matter heterotopia, Periventricular nodular heterotopia, Polymicrogyria OMIM:617201
Joubert Syndrome With Hepatic Defect
Occipital encephalocele, Cerebellar vermis hypoplasia, Hydrocephalus, Abnormality of neuronal mig... ORPHA:1454
Fragile X-Associated Tremor/Ataxia Syndrome
Diffuse cerebellar atrophy, Abnormal brainstem morphology, Compulsive behaviors, Dysphagia ORPHA:93256
Fragile X Syndrome
Hyperactivity, Recurrent hand flapping, Periventricular heterotopia, Self-biting OMIM:300624
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Abnormal midbrain morphology, Aggressive behavior, Self-injurious behavior, Compulsive behaviors,... ORPHA:293987
Radio-Tartaglia Syndrome
Impulsivity, Aggressive behavior, Agenesis of corpus callosum, Gray matter heterotopia, Attention... OMIM:619312
Aicardi Syndrome
Cerebellar vermis hypoplasia, Spina bifida, Pachygyria, Partial agenesis of the corpus callosum, ... OMIM:304050
Acromelic Frontonasal Dysostosis
Encephalocele, Retrocerebellar cyst, Gray matter heterotopia, Periventricular nodular heterotopia... OMIM:603671
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity, Aggressive behavior ORPHA:85327
Bilateral Perisylvian Polymicrogyria
Cerebellar vermis hypoplasia, Perisylvian predominant thick cortex pachygyria, Abnormality of neu... ORPHA:98889
Genitourinary And/Or Brain Malformation Syndrome
Dysplastic corpus callosum, Gray matter heterotopia, Colpocephaly, Chiari malformation, Holoprose... OMIM:618820
Hypomelanosis Of Ito
Gray matter heterotopia OMIM:300337
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Abnormal brainstem morphology, Abnormality of neuronal migration, Attention deficit hyperactivity... ORPHA:464311
6Q Terminal Deletion Syndrome
Periventricular heterotopia, Abnormality of neuronal migration, Gray matter heterotopia, Colpocep... ORPHA:75857
Developmental Delay With Variable Neurologic And Brain Abnormalities
Gray matter heterotopia OMIM:619694
Thanatophoric Dysplasia, Type I
Neonatal death, Gray matter heterotopia, Hydrocephalus OMIM:187600
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Impulsivity, Periventricular heterotopia, Interhypothalamic adhesion, Self-injurious behavior, At... OMIM:618929
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Cerebellar dysplasia, Type II lissencephaly, Hydrocephalus, Hypoplasia of the brainstem, Cerebell... OMIM:253280
Crome Syndrome
Cerebellar dysplasia OMIM:218900
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Encephalocele, Abnormal cortical gyration, Exencephaly, Abnormality of neuronal migration, Macrog... ORPHA:2211
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Death in infancy, Abnormality of neuronal migration, Polymicrogyria, Agenesis of corpus callosum,... OMIM:608836
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Lateral ventricle dilatation, Periventricular heterotopia OMIM:614105
Neonatal Adrenoleukodystrophy
Abnormality of neuronal migration ORPHA:44
Tetrasomy 18P
Abnormality of neuronal migration ORPHA:3307
Wilson Disease
Dysphagia, Face of the giant panda sign OMIM:277900
Thanatophoric Dysplasia Type 1
Gray matter heterotopia, Hydrocephalus, Ventriculomegaly ORPHA:1860
Orofaciodigital Syndrome I
Abnormal cortical gyration, Myelomeningocele, Hydrocephalus, Gray matter heterotopia, Hypothalami... OMIM:311200
Ventriculomegaly With Cystic Kidney Disease
Gray matter heterotopia, Hydrocephalus, Ventriculomegaly OMIM:219730
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Death in infancy, Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Abnormal cortical ... OMIM:210710
Holoprosencephaly
Encephalocele, Hydrocephalus, Abnormality of neuronal migration, Spinal dysraphism, Holoprosencep... ORPHA:2162
16Q24.3 Microdeletion Syndrome
Colpocephaly, Periventricular heterotopia, Ventriculomegaly, Dysphagia ORPHA:261250
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Ventriculomegaly, Attention deficit hyperactivity disorder, Periventricular heterotopia OMIM:618870
Peroxisome Biogenesis Disorder 13A (Zellweger)
Neonatal death, Gray matter heterotopia, Polymicrogyria OMIM:614887
Semilobar Holoprosencephaly
Hydrocephalus, Abnormal brainstem morphology, Neural tube defect, Attention deficit hyperactivity... ORPHA:220386
Alobar Holoprosencephaly
Hydrocephalus, Abnormal brainstem morphology, Neural tube defect, Attention deficit hyperactivity... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Hydrocephalus, Abnormal brainstem morphology, Neural tube defect, Attention deficit hyperactivity... ORPHA:93926
Lobar Holoprosencephaly
Hydrocephalus, Abnormal brainstem morphology, Neural tube defect, Attention deficit hyperactivity... ORPHA:93924
Vici Syndrome
Gray matter heterotopia, Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Dysphagia OMIM:242840
Van Maldergem Syndrome 1
Subcortical band heterotopia, Simplified gyral pattern, Gray matter heterotopia, Periventricular ... OMIM:601390
Hydrolethalus Syndrome 1
Abnormal cortical gyration, Anencephaly, Gray matter heterotopia, Stillbirth, Severe hydrocephalu... OMIM:236680
Opitz-Kaveggia Syndrome
Gray matter heterotopia, Hydrocephalus, Partial agenesis of the corpus callosum, Attention defici... OMIM:305450
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Abnormality of neuronal migration ORPHA:2063
Koolen-De Vries Syndrome
Gray matter heterotopia, Hyperactivity, Ventriculomegaly, Impulsivity OMIM:610443
Periventricular Nodular Heterotopia
Periventricular heterotopia ORPHA:98892
Smith-Lemli-Opitz Syndrome
Cerebellar atrophy, Death in infancy, Hyperactivity, Aggressive behavior, Periventricular heterot... OMIM:270400
Multiple Acyl-Coa Dehydrogenase Deficiency
Gray matter heterotopia, Dysphagia ORPHA:26791
Peroxisome Biogenesis Disorder 1A (Zellweger)
Death in childhood, Gray matter heterotopia, Polymicrogyria, Dysphagia OMIM:214100
Fontaine Progeroid Syndrome
Death in infancy, Cerebellar vermis hypoplasia, Periventricular heterotopia, Hydrocephalus, Gray ... OMIM:612289
Alg11-Cdg
Gray matter heterotopia ORPHA:280071
9Q21.13 Microdeletion Syndrome
Gray matter heterotopia ORPHA:531151
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Gray matter heterotopia OMIM:618797
Van Maldergem Syndrome 2
Gray matter heterotopia, Periventricular nodular heterotopia, Subcortical band heterotopia OMIM:615546
Miller-Dieker Lissencephaly Syndrome
Gray matter heterotopia, Pachygyria, Lissencephaly, Agyria OMIM:247200
Pagod Syndrome
Encephalocele, Death in infancy, Spina bifida, Meningocele, Abnormality of neuronal migration ORPHA:991
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Gray matter heterotopia OMIM:608624
Neuromuscular Oculoauditory Syndrome
Agenesis of corpus callosum, Periventricular heterotopia OMIM:618733
Periventricular Nodular Heterotopia 9
Gray matter heterotopia, Attention deficit hyperactivity disorder, Compulsive behaviors, Perivent... OMIM:618918
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Gray matter heterotopia, Bruxism ORPHA:453499
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Gray matter heterotopia, Agenesis of corpus callosum, Bruxism ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Gray matter heterotopia, Agenesis of corpus callosum, Bruxism ORPHA:352665
Mismatch Repair Cancer Syndrome 1
Gray matter heterotopia, Agenesis of corpus callosum OMIM:276300
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Holoprosencephaly, Abnormality of neuronal migration ORPHA:3186
Nijmegen Breakage Syndrome
Abnormality of neuronal migration, Attention deficit hyperactivity disorder ORPHA:647
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Periventricular heterotopia, Abnorma... ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Periventricular heterotopia, Abnorma... ORPHA:261552
Genitopatellar Syndrome
Periventricular heterotopia, Colpocephaly, Dysphagia, Pachygyria, Agenesis of corpus callosum OMIM:606170
Mowat-Wilson Syndrome
Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Periventricular heterotopia, Abnorma... ORPHA:2152
Proteus Syndrome
Gray matter heterotopia ORPHA:744

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 Kif2a

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 Kif2a.

No publications found that use IMPC mice or data for Kif2a.

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MGI Allele Allele Type Produced
Kif2atm1(NCOM)Cmhd Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Kif2aem1(IMPC)Mbp Exon Deletion Mice, Tissue
Kif2atm234568(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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