banner
Genes Phenotypes Help, News, Blog

Gene: Tuba1a MGI:98869

Log in to follow

Gene Summary

Name:
tubulin, alpha 1A
Synonyms:
Tuba-1,  Tuba1,  Talpha1 alpha-tubulin

Order Alleles

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
abnormal facial morphology Tuba1aem1(IMPC)Bay HOM E18.5 0.00
preweaning lethality, incomplete penetrance Tuba1aem1(IMPC)Bay HOM   Early adult 0.00
edema Tuba1aem1(IMPC)Bay HOM E18.5 0.00
hemorrhage Tuba1aem1(IMPC)Bay HOM E18.5 0.00
abnormal embryo size Tuba1aem1(IMPC)Bay HOM E18.5 0.00

Download data as:  TSV  XLS

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

lacZ Expression

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.

Download thumbnail Download
MicroCT E18.5

Embryo reconstruction

5 Images

View images

Human diseases caused by Tuba1a 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 Tuba1a by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Lissencephaly 3
Periventricular laminar heterotopia, Pachygyria, Gray matter heterotopia, Lissencephaly, Polymicr... OMIM:611603
Lissencephaly Due To Tuba1A Mutation
Dilated fourth ventricle, Agyria, Dysplastic corpus callosum, Partial agenesis of the corpus call... ORPHA:171680
Tubulinopathy-Associated Dysgyria
Dysgyria, Pachygyria, Abnormal thalamus morphology, Agyria, Ventriculomegaly ORPHA:467166
Fetal Akinesia Deformation Sequence
Intestinal hypoplasia, Polyhydramnios, Cleft palate, Scoliosis, Dandy-Walker malformation ORPHA:994
Congenital Fibrosis Of Extraocular Muscles
Polymicrogyria ORPHA:45358

The table below shows human diseases predicted to be associated to Tuba1a by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Lissencephaly 1
Subcortical band heterotopia, Gray matter heterotopia, Lissencephaly, Pachygyria, Agyria, Ventric... OMIM:607432
Cortical Dysplasia, Complex, With Other Brain Malformations 14B (Bilateral Perisylvian)
Enlarged sylvian cistern, Perisylvian polymicrogyria OMIM:615752
Isolated Lissencephaly Type 1 Without Known Genetic Defects
Enlarged sylvian cistern, Gray matter heterotopia, Pachygyria, Agyria, Ventriculomegaly ORPHA:1084
Chudley-Mccullough Syndrome
Dysplastic corpus callosum, Hydrocephalus, Partial agenesis of the corpus callosum, Gray matter h... OMIM:604213
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Hydrocephalus, Abnormal vertebral morphology, Abnormality of neuronal migration, Ventriculomegaly OMIM:618709
Microcephalic Primordial Dwarfism Due To Znf335 Deficiency
Ventriculomegaly, Simplified gyral pattern, Abnormal neuron morphology ORPHA:329228
Cortical Dysplasia, Complex, With Other Brain Malformations 3
Subcortical band heterotopia, Gray matter heterotopia, Lissencephaly, Pachygyria, Agyria OMIM:615411
Lissencephaly 3
Periventricular laminar heterotopia, Pachygyria, Gray matter heterotopia, Lissencephaly, Polymicr... OMIM:611603
Nodular Neuronal Heterotopia
Abnormality of neuronal migration ORPHA:2149
Microlissencephaly
Subcortical heterotopia, Periventricular heterotopia, Simplified gyral pattern, Lissencephaly, Pa... ORPHA:1083
Sub-Cortical Nodular Heterotopia
Polymicrogyria, Subcortical heterotopia, Agenesis of corpus callosum, Abnormality of neuronal mig... ORPHA:101029
Lissencephaly 4
Agenesis of corpus callosum, Colpocephaly, Lissencephaly, Simplified gyral pattern OMIM:614019
Lissencephaly, X-Linked, 1
Gray matter heterotopia, Lissencephaly, Pachygyria, Agenesis of corpus callosum, Agyria OMIM:300067
Band Heterotopia
Hydrocephalus, Subcortical band heterotopia, Gray matter heterotopia, Lateral ventricle dilatatio... OMIM:600348
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Cortical Dysplasia, Complex, With Other Brain Malformations 10
Lissencephaly, Ventriculomegaly, Periventricular ribbonlike heterotopia OMIM:618677
Lipedema
Edema OMIM:614103
Periventricular Heterotopia With Microcephaly, Autosomal Recessive
Periventricular nodular heterotopia, Periventricular heterotopia OMIM:608097
Mismatch Repair Cancer Syndrome 4
Gray matter heterotopia, Agenesis of corpus callosum OMIM:619101
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Hydrocephalus, Polymicrogyria, Ventriculomegaly OMIM:615938
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Polymicrogyria, Agenesis of corpus callosum, Ventriculomegaly ORPHA:171703
Bilateral Striopallidodentate Calcinosis
Abnormality of neuronal migration, Ventriculomegaly ORPHA:1980
Polymicrogyria Due To Tubb2B Mutation
Perisylvian polymicrogyria, Gray matter heterotopia, Lateral ventricle dilatation, Lissencephaly,... ORPHA:300573
Periventricular Nodular Heterotopia 8
Periventricular nodular heterotopia OMIM:618185
Pandas
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... ORPHA:66624
Glycine Encephalopathy 1
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Irritability, Agenesis of corpus c... OMIM:605899
Periventricular Nodular Heterotopia 6
Periventricular nodular heterotopia OMIM:615544
Leukoencephalopathy With Vanishing White Matter 5
Lateral ventricle dilatation, Dilated third ventricle OMIM:620315
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Colpocephaly, Polymicrogyria, Agenesis of corpus callosum ORPHA:250972
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Gray matter heterotopia, Hydrocephalus, Type II lissencephaly, Dysgyria ORPHA:352682
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Hyperactivity, Failure to thrive, Impulsivity, Aggressive behavior, Pachygyria, Simplified gyral ... OMIM:604317
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity
Periventricular nodular heterotopia OMIM:618572
Intellectual Developmental Disorder, X-Linked 103
Lateral ventricle dilatation, Polymicrogyria OMIM:300982
Autosomal Recessive Primary Microcephaly
Gray matter heterotopia, Pachygyria, Agenesis of corpus callosum, Ventriculomegaly ORPHA:2512
Cerebrooculofacioskeletal Syndrome 3
Ventriculomegaly, Agenesis of corpus callosum, Cleft palate, Edema OMIM:616570
Alg13-Cdg
Abnormal lateral ventricle morphology, Long philtrum ORPHA:324422
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Short attention span, Hyperactivity DECIPHER:19
Polyrrhinia
Lateral ventricle dilatation, Abnormal third ventricle morphology, Orofacial cleft ORPHA:141091
Congenital Hydrocephalus
Abnormal cortical gyration, Hydrocephalus, Colpocephaly, Lissencephaly, Ventriculomegaly ORPHA:2185
Peroxisome Biogenesis Disorder 6A (Zellweger)
Colpocephaly, Pachygyria OMIM:614870
Holoprosencephaly 5
Syntelencephaly, Alobar holoprosencephaly, Deep philtrum, Hydrocephalus, Orofacial cleft, Lobar h... OMIM:609637
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Thin upper lip vermilion, Tented upper lip vermilion, Kyphosis, Simplified gyral pattern, Lateral... OMIM:619244
Brain Small Vessel Disease 2
Subcortical heterotopia, Polymicrogyria, Ventriculomegaly OMIM:614483
Dihydropyrimidine Dehydrogenase Deficiency
Hyperactivity, Failure to thrive, Agenesis of corpus callosum OMIM:274270
Preeclampsia/Eclampsia 1
Hypertension, Edema, Intrauterine growth retardation OMIM:189800
Congenital Muscular Dystrophy Without Intellectual Disability
Gray matter heterotopia, Kyphoscoliosis, Pachygyria, Ventriculomegaly ORPHA:370980
Omphalocele-Cleft Palate Syndrome, Lethal
Hydrocephalus, Bifid uvula, Cleft palate OMIM:258320
Hemimegalencephaly
Abnormal neuron morphology, Gray matter heterotopia, Pachygyria, Polymicrogyria, Ventriculomegaly ORPHA:99802
Stxbp1-Related Encephalopathy
Dysplastic corpus callosum, Hyperactivity ORPHA:599373
Lissencephaly 6 With Microcephaly
Periventricular heterotopia, Pachygyria, Partial agenesis of the corpus callosum, Simplified gyra... OMIM:616212
Symmetrical Thalamic Calcifications
Abnormality of neuronal migration ORPHA:1314
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Thoracic scoliosis, Periventricular heterotopia, Partial agenesis of the corpus callosum, Simplif... OMIM:616171
Acalvaria
Spina bifida, Hydrocephalus, Abnormality of neuronal migration, Cleft palate, Holoprosencephaly ORPHA:945
Pulmonary Edema Of Mountaineers, Susceptibility To
Elevated pulmonary artery pressure, Edema, Pulmonary edema OMIM:178400
Lissencephaly 5
Gray matter heterotopia, Hydrocephalus, Subcortical band heterotopia, Type II lissencephaly OMIM:615191
X-Linked Parkinsonism-Spasticity Syndrome
Lateral ventricle dilatation, Dilated third ventricle ORPHA:363654
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Cervical platyspondyly, Macrodontia, Downturned corners of mouth, Tooth agenesis, Colpocephaly, S... OMIM:618731
3-Hydroxyisobutyric Aciduria
Abnormality of neuronal migration OMIM:236795
Maternal Hyperthermia-Induced Birth Defects
Abnormality of neuronal migration ORPHA:2216
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations
Simplified gyral pattern, Ventriculomegaly, Periventricular heterotopia OMIM:618273
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Hyperactivity, Failure to thrive, Agenesis of corpus callosum, Aggressive behavior OMIM:615286
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Abnormal fear-induced behavior, Pseudobulbar paralysis, Aggressive behavior ORPHA:208441
Lissencephaly Syndrome, Norman-Roberts Type
4-layered lissencephaly, Abnormality of neuronal migration, Microlissencephaly, Dysphagia, Agenes... ORPHA:89844
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy
Lateral ventricle dilatation, Tented upper lip vermilion, Long philtrum OMIM:619972
Glutathionuria
Gray matter heterotopia, Agenesis of corpus callosum OMIM:231950
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Broad-based gait, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, I... ORPHA:3077
Pontocerebellar Hypoplasia, Type 12
Lateral ventricle dilatation, Polyhydramnios OMIM:618266
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders
Overweight, Periventricular nodular heterotopia, Abnormal repetitive mannerisms, Attention defici... OMIM:620065
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Thin upper lip vermilion, Abnormal lateral ventricle morphology ORPHA:488635
Subependymal Nodular Heterotopia
Gray matter heterotopia, Partial agenesis of the corpus callosum, Polymicrogyria, Abnormality of ... ORPHA:101030
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Dental crowding, Polyhydramnios, Partial agenesis of the corpus callosum, Lateral ventricle dilat... OMIM:617296
Hypotonia, Infantile, With Psychomotor Retardation
Open mouth, Lateral ventricle dilatation OMIM:616816
Hydrolethalus Syndrome 2
Hydrocephalus, Anencephaly, Cleft palate, Agenesis of corpus callosum, Ventriculomegaly OMIM:614120
Joubert Syndrome 30
Gray matter heterotopia, Dandy-Walker malformation, Ventriculomegaly OMIM:617622
Lymphatic Malformation 11
Pedal edema, Lymphedema OMIM:619401
Cortical Dysplasia, Complex, With Other Brain Malformations 11
Ventriculomegaly, High, narrow palate, Hydrocephalus, Ileus, Colpocephaly, High palate, Short phi... OMIM:620156
Hemiparkinsonism-Hemiatrophy Syndrome
Lateral ventricle dilatation, Scoliosis ORPHA:306669
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
Microphthalmia, Syndromic 11
Agenesis of pineal gland, Agenesis of corpus callosum, Cleft palate, Cleft upper lip OMIM:614402
Unilateral Hemispheric Polymicrogyria
Lateral ventricle dilatation ORPHA:101071
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Dilated fourth ventricle, Thin upper lip vermilion, Downturned corners of mouth, Lobulated tongue... OMIM:613443
Central Neurocytoma
Abnormal lateral ventricle morphology, Hydrocephalus ORPHA:73256
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Ventriculomegaly, Type II lissencephaly, Hydrocephalus, Lateral ventricle dilatation, Dilated thi... OMIM:613154
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities
Lateral ventricle dilatation, Simplified gyral pattern OMIM:617668
Hypomelanosis Of Ito
Gray matter heterotopia, Kyphosis, Scoliosis OMIM:300337
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Abnormality of neuronal migration, Ventriculomegaly ORPHA:2772
Pontocerebellar Hypoplasia, Type 13
Thin upper lip vermilion, Macrodontia, Edema, Pleural effusion, Lateral ventricle dilatation, Hig... OMIM:618606
Oculocerebrocutaneous Syndrome
Gray matter heterotopia, Agenesis of corpus callosum, Dandy-Walker malformation OMIM:164180
Tetrasomy 18P
Abnormality of neuronal migration, Scoliosis ORPHA:3307
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Abnormality of neuronal migration ORPHA:2204
Thanatophoric Dysplasia Type 2
Kyphosis, Hydrocephalus, Patent ductus arteriosus, Abnormality of neuronal migration, Platyspondy... ORPHA:93274
Autosomal Recessive Spastic Paraplegia Type 66
Colpocephaly ORPHA:401815
Poretti-Boltshauser Syndrome
Dilated fourth ventricle, Gray matter heterotopia OMIM:615960
Focal Facial Dermal Dysplasia Type Iv
Intracranial hemorrhage, Hydrocephalus, Cleft palate, Cleft upper lip ORPHA:398189
Periventricular Nodular Heterotopia 1
Gray matter heterotopia, Patent ductus arteriosus, Abnormality of neuronal migration OMIM:300049
Lissencephaly Due To Tuba1A Mutation
Dilated fourth ventricle, Agyria, Dysplastic corpus callosum, Partial agenesis of the corpus call... ORPHA:171680
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Polyhydramnios, Kyphosis, Perisylvian polymicrogyria, Subdural hemorrhage, Lateral ventricle dila... OMIM:618291
Isolated Dandy-Walker Malformation
Encephalocele, Dandy-Walker malformation, Cleft palate ORPHA:217
Congenital Disorder Of Deglycosylation 2
Partial agenesis of the corpus callosum, Gray matter heterotopia, Hypothalamic hamartoma, Dysphag... OMIM:619775
Basel-Vanagaite-Smirin-Yosef Syndrome
Tented upper lip vermilion, Exaggerated cupid's bow, High, narrow palate, Kyphosis, Cleft palate,... ORPHA:464738
Metatropic Dysplasia
Kyphosis, Hydrocephalus, Cleft palate, Abnormal form of the vertebral bodies, Scoliosis, Hypoplas... ORPHA:2635
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Communicating hydrocephalus, Hydrocephalus, Simplified gyral pattern, Gray matter heterotopia, Co... OMIM:615219
Aicardi Syndrome
Butterfly vertebrae, Block vertebrae, Spina bifida, Hiatus hernia, Cleft upper lip, Pachygyria, P... OMIM:304050
Combined Oxidative Phosphorylation Deficiency 54
Memory impairment, Dysplastic corpus callosum, Periventricular nodular heterotopia, Obesity OMIM:619737
Congenital Muscular Dystrophy With Cerebellar Involvement
Dilated fourth ventricle, Ventriculomegaly, Lumbar hyperlordosis, Hydrocephalus, Decreased thalam... ORPHA:370959
Pyruvate Dehydrogenase E1-Beta Deficiency
Decreased body weight, Pachygyria, Agenesis of corpus callosum, Periventricular heterotopia ORPHA:255138
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Tented upper lip vermilion, Exaggerated cupid's bow, Polyhydramnios, Periventricular heterotopia,... OMIM:619833
Global Developmental Delay With Or Without Impaired Intellectual Development
Thin upper lip vermilion, Oligodontia, Lateral ventricle dilatation OMIM:618330
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Lateral ventricle dilatation, Scoliosis, Spina bifida occulta, Agenesis of corpus callosum, Dandy... OMIM:618736
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Ventriculomegaly, Polyhydramnios, Hydrocephalus, Cleft palate, Hydranencephaly, Polymicrogyria, A... OMIM:225790
Li-Ghorbani-Weisz-Hubshman Syndrome
Patent ductus arteriosus, Ventriculomegaly, Periventricular heterotopia OMIM:618974
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Pachygyria, Abnormality of neuronal migration OMIM:608840
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Impulsivity, Periventricular heterotopia, Interhypothalamic adhesion, Self-injurious behavior, At... OMIM:618929
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Thin upper lip vermilion, Lateral ventricle dilatation, Tented upper lip vermilion, Cleft palate OMIM:615716
Fg Syndrome 3
Hyperactivity, Agenesis of corpus callosum OMIM:300406
Cntnap2-Related Developmental And Epileptic Encephalopathy
Hyperactivity, Aggressive behavior, Abnormal neuron morphology, Mental deterioration, Abnormality... ORPHA:163681
Leber Congenital Amaurosis
Abnormality of neuronal migration ORPHA:65
Holoprosencephaly 11
Cleft lip, Agenesis of corpus callosum, Holoprosencephaly, Cleft palate OMIM:614226
Thanatophoric Dysplasia
Kyphosis, Patent ductus arteriosus, Hydrocephalus, Gray matter heterotopia, Platyspondyly, Ventri... ORPHA:2655
16Q24.3 Microdeletion Syndrome
Ventriculomegaly, Periventricular heterotopia, Kyphosis, Dilated cardiomyopathy, Wide mouth, Colp... ORPHA:261250
Pseudo-Torch Syndrome 2
Cerebral hemorrhage, Gray matter heterotopia, Lateral ventricle dilatation, Ascites, Bradycardia,... OMIM:617397
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Dandy-Walker malformation, Subcortical heterotopia, Agyria, Ventriculomegaly, Hydrocephalus, Part... OMIM:614643
Chiari Malformation Type Ii
Gray matter heterotopia, Agenesis of corpus callosum, Dysphagia OMIM:207950
Walker-Warburg Syndrome
Ventriculomegaly, Abnormal cortical gyration, Pachygyria, Hydrocephalus, Abnormality of neuronal ... ORPHA:899
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Thin upper lip vermilion, Partial agenesis of the corpus callosum, Tented upper lip vermilion, La... OMIM:619517
Martsolf Syndrome 2
Lateral ventricle dilatation OMIM:619420
Periventricular Nodular Heterotopia
Patent ductus arteriosus, Scoliosis, Periventricular heterotopia ORPHA:98892
Edinburgh Malformation Syndrome
Hydrocephalus, Abnormality of neuronal migration ORPHA:1895
Dworschak-Punetha Neurodevelopmental Syndrome
Microdontia, Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum OMIM:619955
Leukoencephalopathy, Progressive, With Ovarian Failure
Lateral ventricle dilatation OMIM:615889
Intellectual Developmental Disorder, X-Linked 12
Abnormality of neuronal migration, Ventriculomegaly OMIM:300957
Craniosynostosis 6
Lateral ventricle dilatation, Scoliosis, Spina bifida occulta, Agenesis of corpus callosum, Dandy... OMIM:616602
Glutamine Deficiency, Congenital
Subependymal cysts, Lateral ventricle dilatation, Thin vermilion border, Bradycardia, Neonatal death OMIM:610015
Cerebral Palsy, Spastic Quadriplegic, 3
Gray matter heterotopia OMIM:617008
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Kyphosis, Hydrocephalus, Scoliosis, Dilated third ventricle, Ventriculomegaly ORPHA:500055
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Thin upper lip vermilion, Tented upper lip vermilion, Kyphoscoliosis, Thick lower lip vermilion, ... OMIM:620075
Malan Overgrowth Syndrome
Lateral ventricle dilatation, High palate, Scoliosis, Narrow mouth, Ventriculomegaly ORPHA:420179
Aase-Smith Syndrome I
Open mouth, Dandy-Walker malformation, Hydrocephalus, Cleft palate OMIM:147800
Neu-Laxova Syndrome 2
Spina bifida, Edema, Polyhydramnios, Cleft palate, High palate, Lissencephaly, Scoliosis, Ventric... OMIM:616038
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Polyhydramnios, Celiac disease, Dysplastic corpus callosum, Increased nuchal translucency, Latera... ORPHA:544488
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Lateral ventricle dilatation, Lissencephaly, Simplified gyral pattern ORPHA:284417
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Pleural effusion, Generalized edema OMIM:618773
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Tented upper lip vermilion, Periventricular heterotopia, Lateral ventricle dilatation, High palat... OMIM:614105
Neurocutaneous Melanocytosis
Ventriculomegaly, Abnormality of neuronal migration, Dandy-Walker malformation ORPHA:2481
Intellectual Developmental Disorder, Autosomal Dominant 48
Dilated fourth ventricle, Patent ductus arteriosus, Lateral ventricle dilatation, Scoliosis, Poly... OMIM:617751
X-Linked Intellectual Disability, Wilson Type
Wide mouth, Lateral ventricle dilatation, Thick vermilion border ORPHA:85290
Tubulinopathy-Associated Dysgyria
Dysgyria, Pachygyria, Abnormal thalamus morphology, Agyria, Ventriculomegaly ORPHA:467166
Hydrolethalus
Polyhydramnios, Hydrocephalus, Submucous cleft hard palate, Anencephaly, Cleft palate, Gingival c... ORPHA:2189
Holoprosencephaly 13, X-Linked
Median cleft lip, Alobar holoprosencephaly, Submucous cleft hard palate, Vertebral clefting, Clef... OMIM:301043
Ventriculomegaly With Cystic Kidney Disease
Gray matter heterotopia, Hydrocephalus, Ventriculomegaly OMIM:219730
Radio-Tartaglia Syndrome
Impulsivity, Aggressive behavior, Obesity, Gray matter heterotopia, Agenesis of corpus callosum, ... OMIM:619312
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Protruding tongue, Hydrocephalus, Alveolar ridge overgrowth, Cleft palate, Thin vermilion border,... OMIM:612938
Lymphatic Malformation 7
Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha... OMIM:617300
Joubert Syndrome 3
Enlarged fossa interpeduncularis, Open mouth, Frontal polymicrogyria, Lateral ventricle dilatation OMIM:608629
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Lateral ventricle dilatation OMIM:618890
Adams-Oliver Syndrome 2
Hydrocephalus, Polymicrogyria, Lateral ventricle dilatation, Oligohydramnios OMIM:614219
Joubert Syndrome
Hydrocephalus, Abnormality of neuronal migration, Abnormal form of the vertebral bodies, Scoliosi... ORPHA:475
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
High, narrow palate, Hydrocephalus, Hematochezia, Lateral ventricle dilatation, Short philtrum, D... OMIM:619575
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Partial agenesis of the corpus callosum, Cleft palate, Short philtrum, Retinal neovascularization... OMIM:619074
Periventricular Nodular Heterotopia 7
Gray matter heterotopia, Periventricular nodular heterotopia, Polymicrogyria, Choroid plexus cyst OMIM:617201
Lissencephaly Type 1 Due To Doublecortin Gene Mutation
Lateral ventricle dilatation, Pachygyria, Agyria, Scoliosis ORPHA:2148
Paganini-Miozzo Syndrome
Downturned corners of mouth, Lateral ventricle dilatation, Thin vermilion border OMIM:301025
Microphthalmia-Brain Atrophy Syndrome
Lateral ventricle dilatation ORPHA:77299
Desmosterolosis
Abnormal cortical gyration, Pachygyria, Patent ductus arteriosus, Hydrocephalus, Abnormality of n... ORPHA:35107
Lethal Omphalocele-Cleft Palate Syndrome
Cleft soft palate, Hydrocephalus, Cleft palate, Unilateral cleft lip, Bifid uvula ORPHA:2736
Alg2-Cdg
Lateral ventricle dilatation ORPHA:79326
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Periventricular heterotopia, Inappropriate laughter, Cognitive impairment, Mental deterioration, ... OMIM:618476
Fragile X Syndrome
Scoliosis, Periventricular heterotopia OMIM:300624
Van Der Woude Syndrome 1
Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Bifid uvula OMIM:119300
2,4-Dienoyl-Coa Reductase Deficiency
Hydrocephalus, Ventriculomegaly, Colpocephaly OMIM:616034
Chromosome 6Q24-Q25 Deletion Syndrome
Persistent fetal circulation, Thin upper lip vermilion, Tricuspid regurgitation, High, narrow pal... OMIM:612863
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Abnormality of neuronal migration, Scoliosis ORPHA:2518
Pontocerebellar Hypoplasia, Type 1A
Lateral ventricle dilatation, Tongue fasciculations OMIM:607596
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Lateral ventricle dilatation, High palate, Scoliosis OMIM:619995
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors, ... ORPHA:101039
Isotretinoin Embryopathy-Like Syndrome
Hydrocephalus, Cleft palate OMIM:243440
Cleft Lip/Palate
Agenesis of lateral incisor, Bilateral cleft palate, Velopharyngeal insufficiency, Abnormality of... ORPHA:199306
D-2-Hydroxyglutaric Aciduria 1
Aortic regurgitation, Cardiomyopathy, Lateral ventricle dilatation, Subependymal cysts OMIM:600721
Orofaciodigital Syndrome Type 14
Dilated fourth ventricle, Accessory oral frenulum, Hamartoma of tongue, Dilated third ventricle, ... ORPHA:434179
Giant Axonal Neuropathy 1, Autosomal Recessive
Lateral ventricle dilatation, Scoliosis OMIM:256850
Triploidy
Intestinal malrotation, Polyhydramnios, Non-midline cleft lip, Hydrocephalus, Meningocele, Cleft ... ORPHA:3376
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Hyperlordosis, Periventricular heterotopia, Patent ductus arteriosus, Coronal cleft vertebrae, Sc... OMIM:618870
Neonatal Adrenoleukodystrophy
Abnormality of neuronal migration ORPHA:44
Thanatophoric Dysplasia Type 1
Kyphosis, Patent ductus arteriosus, Hydrocephalus, Gray matter heterotopia, Platyspondyly, Ventri... ORPHA:1860
Intellectual Developmental Disorder, Autosomal Dominant 56
Thin upper lip vermilion, Lateral ventricle dilatation, High palate, Long philtrum, Open mouth OMIM:617854
Meckel Syndrome, Type 3
Occipital encephalocele, Hydrocephalus, Dandy-Walker malformation, Cleft palate OMIM:607361
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Occipital encephalocele, Ventriculomegaly, Small cervical vertebral bodies, Meningocele, Lateral ... ORPHA:397715
Weiss-Kruszka Syndrome
Exaggerated cupid's bow, Broad philtrum, Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly OMIM:618619
Pyruvate Dehydrogenase E1-Alpha Deficiency
Partial agenesis of the corpus callosum, Lateral ventricle dilatation, Polymicrogyria, Agenesis o... ORPHA:79243
Developmental Delay With Variable Neurologic And Brain Abnormalities
Gray matter heterotopia OMIM:619694
Cach Syndrome
T2 hypointense thalamus, Lateral ventricle dilatation, Dysgyria, Oligohydramnios ORPHA:135
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Lateral ventricle dilatation OMIM:619278
Ventriculomegaly With Defects Of The Radius And Kidney
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation OMIM:602200
9Q21.13 Microdeletion Syndrome
Gray matter heterotopia, Vertebral segmentation defect, Scoliosis ORPHA:531151
Holoprosencephaly 14
Ventriculomegaly, Median cleft lip, Alobar holoprosencephaly, Aqueductal stenosis, Cleft lip, Par... OMIM:619895
Noonan Syndrome 14
Aortic regurgitation, Polyhydramnios, High, narrow palate, Kyphosis, Wide mouth, Lateral ventricl... OMIM:619745
Orofaciodigital Syndrome Xvi
Gray matter heterotopia, Ventriculomegaly OMIM:617563
3C Syndrome
Ventriculomegaly, Kyphosis, Hydrocephalus, Hemivertebrae, Abnormality of neuronal migration, Scol... ORPHA:7
16P13.11 Microdeletion Syndrome
Self-injurious behavior, Agenesis of corpus callosum, Abnormality of neuronal migration, Compulsi... ORPHA:261236
Agnathia-Otocephaly Complex
Polyhydramnios, Aglossia, Cleft palate, Holoprosencephaly, Narrow mouth, Microglossia, Agenesis o... OMIM:202650
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Spina bifida, Non-midline cleft lip, Anencephaly, Cleft palate, Ectopic anus ORPHA:2476
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Hyperactivity, Aggressive behavior, Low frustration tolerance, Compulsive behaviors, Impaired soc... OMIM:309520
Spondyloenchondrodysplasia
Delayed eruption of teeth, Abnormal lateral ventricle morphology, Decreased response to growth ho... ORPHA:1855
Joubert Syndrome With Oculorenal Defect
Hydrocephalus, Abnormality of neuronal migration, Scoliosis ORPHA:2318
Genitopalatocardiac Syndrome
Kyphosis, Non-midline cleft lip, Hydrocephalus, Cleft palate, Downturned corners of mouth, Scoliosis ORPHA:2075
Carnitine Palmitoyltransferase Ii Deficiency
Pachygyria, Hydrocephalus, Abnormality of neuronal migration, Renal tubular epithelial necrosis, ... ORPHA:157
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Encephalocele, Type II lissencephaly, Cleft upper lip, Hydrocephalus, Cleft palate, Macroglossia,... OMIM:613150
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Short attention span, Hyperactivity, Aggressive behavior, Shyness, Depression, Irritability, Self... ORPHA:449291
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Partial agenesis of the corpus callosum, Colpocephaly, Thick vermilion border, High palate, Agene... OMIM:620113
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Cleft soft palate, Choroid plexus cyst, Lateral ventricle dilatation, Short philtrum, Smooth phil... ORPHA:293725
Developmental And Epileptic Encephalopathy 31B
Protruding tongue, Gingival overgrowth, Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly OMIM:620352
Duplication Of The Pituitary Gland
Encephalocele, Thoracic scoliosis, Polyhydramnios, Supernumerary tooth, Abnormal pituitary gland ... ORPHA:314621
Galloway-Mowat Syndrome
Aqueductal stenosis, Pachygyria, Abnormality of neuronal migration ORPHA:2065
Thanatophoric Dysplasia, Type I
Gray matter heterotopia, Hydrocephalus, Severe platyspondyly, Platyspondyly OMIM:187600
Vici Syndrome
Gray matter heterotopia, Agenesis of corpus callosum ORPHA:1493
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
Short attention span, Hyperactivity, Aggressive behavior, Dysphoria, Depression, Attention defici... OMIM:620242
Meckel Syndrome, Type 4
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Cleft palate, Dandy-Walker malformation OMIM:611134
Neu-Laxova Syndrome
Ventriculomegaly, Abnormal cortical gyration, Pachygyria, Abnormality of neuronal migration, Macr... ORPHA:2671
Mosaic Trisomy 1
Thoracic scoliosis, Polyhydramnios, Increased nuchal translucency, Thick lower lip vermilion, Cle... ORPHA:1692
Linear Skin Defects With Multiple Congenital Anomalies 3
Cardiac arrest, Delayed eruption of primary teeth, Dilated cardiomyopathy, Ventricular tachycardi... OMIM:300952
Halperin-Birk Syndrome
Colpocephaly, Thick vermilion border, High palate, Agenesis of corpus callosum, Ventriculomegaly,... OMIM:618651
Congenital Disorder Of Glycosylation, Type Iig
Thin upper lip vermilion, Thoracic scoliosis, Kyphoscoliosis, Pierre-Robin sequence, Cleft palate... OMIM:611209
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Dilated third ventricle OMIM:619725
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Pachygyria, Hydrocephalus, Abnormality of neuronal migration, Renal tubular epithelial necrosis, ... ORPHA:228308
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Lateral ventricle dilatation OMIM:221770
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Ventriculomegaly, Decreased response to growth hormone stimulation test, Deep philtrum, Wide mout... OMIM:617260
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Thoracic scoliosis, Kyphoscoliosis, Partial agenesis of the corpus callosum, Simplified gyral pat... ORPHA:300570
Van Der Woude Syndrome 2
Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia OMIM:606713
Holoprosencephaly 3
Cleft lip, Cleft palate, Holoprosencephaly, Solitary median maxillary central incisor, Bifid uvul... OMIM:142945
Cerebrofacioarticular Syndrome
Gray matter heterotopia, Dysplastic corpus callosum, Agenesis of corpus callosum, Self-injurious ... ORPHA:314679
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Median cleft lip, Tricuspid regurgitation, Intestinal malrotation, Hamartoma of tongue, Hydrops f... OMIM:263520
6Q Terminal Deletion Syndrome
Failure to thrive, Periventricular heterotopia, Abnormality of neuronal migration, Obesity, Gray ... ORPHA:75857
Lymphangiectasia, Pulmonary, Congenital
Palpebral edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Chylous ascites,... OMIM:265300
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Hamartoma of tongue, Accessory oral frenulum, Polyhydramnios, Hydrocephalus, Anencephaly, Hydrops... OMIM:616546
Alkuraya-Kucinskas Syndrome
Hydrocephalus, Gray matter heterotopia, Lissencephaly, Dandy-Walker malformation, Ventriculomegaly OMIM:617822
Van Der Woude Syndrome
Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho... ORPHA:888
Combined Oxidative Phosphorylation Defect Type 39
Open mouth, Scoliosis, Bradycardia, Lateral ventricle dilatation ORPHA:565624
Early-Onset Autosomal Dominant Alzheimer Disease
Confusion, Dementia, Agitation, Disinhibition, Semantic dementia, Memory impairment, Abnormal soc... ORPHA:1020
Bilateral Generalized Polymicrogyria
Lateral ventricle dilatation ORPHA:208447
Porphyria Due To Ala Dehydratase Deficiency
Restlessness, Abnormal fear-induced behavior, Depression, Agitation, Difficulty walking ORPHA:100924
Holoprosencephaly 7
Bilateral cleft palate, Median cleft lip, Bilateral cleft lip, Alobar holoprosencephaly, Partial ... OMIM:610828
Asparagine Synthetase Deficiency
Dilated fourth ventricle, Dilated third ventricle, Simplified gyral pattern, Ventriculomegaly OMIM:615574
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Abnormal cortical gyration, Pachygyria, Abnormality of neuronal migration, Macrogyria, Lissenceph... ORPHA:2211
Pentalogy Of Cantrell
Encephalocele, Non-midline cleft lip, Hydrocephalus, Anencephaly, Cleft palate, Orofacial cleft, ... ORPHA:1335
Coffin-Lowry Syndrome
Kyphosis, Abnormality of neuronal migration, Abnormal form of the vertebral bodies, Scoliosis, Ve... ORPHA:192
Fanconi Anemia, Complementation Group I
Fused cervical vertebrae, Colpocephaly, Agenesis of corpus callosum, Decreased response to growth... OMIM:609053
Keppen-Lubinsky Syndrome
Tented upper lip vermilion, Polyhydramnios, Gingival overgrowth, Lateral ventricle dilatation, Hi... OMIM:614098
Holoprosencephaly 9
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Cleft upper... OMIM:610829
Severe X-Linked Intellectual Disability, Gustavson Type
Dilated fourth ventricle, Lateral ventricle dilatation, Dandy-Walker malformation ORPHA:3078
Linear Skin Defects With Multiple Congenital Anomalies 1
Junctional ectopic tachycardia, Hydrocephalus, Cleft palate, Anteriorly placed anus, Colpocephaly... OMIM:309801
Aicardi-Goutieres Syndrome 9
Pericarditis, Portal hypertension, Edema, Pericardial effusion, Hypertension, Lateral ventricle d... OMIM:619487
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Aggressive behavior, Progressive language deterioration, Impaired social interacti... OMIM:610042
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Thin upper lip vermilion, Pyloric stenosis, Submucous cleft hard palate, Lateral ventricle dilata... ORPHA:457279
Alg11-Cdg
Gray matter heterotopia, Scoliosis ORPHA:280071
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Abnormality of neuronal migration ORPHA:2063
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Inappropriate behavior ORPHA:309246
Den Hoed-De Boer-Voisin Syndrome
Delayed eruption of teeth, Lactose intolerance, Ventriculomegaly, Carious teeth, Oligohydramnios,... OMIM:619229
Autosomal Recessive Spastic Paraplegia Type 11
Orthostatic hypotension, Lymphedema, Lateral ventricle dilatation, Scoliosis, Hypothalamic atrophy ORPHA:2822
Prader-Willi Syndrome Due To Translocation
Thin upper lip vermilion, Decreased response to growth hormone stimulation test, Anterior pituita... ORPHA:177907
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Polymicrogyria, Agenesis of corpus callosum, Abnormality of neuronal migration, Ventriculomegaly OMIM:608836
Cleft Palate With Or Without Ankyloglossia, X-Linked
Ankyloglossia, Bifid uvula, Cleft palate OMIM:303400
Peroxisome Biogenesis Disorder 5A (Zellweger)
Aortic regurgitation, Tricuspid regurgitation, Palpebral edema, Cleft palate, Macrogyria, Heart m... OMIM:614866
Van Maldergem Syndrome 1
Subcortical band heterotopia, Simplified gyral pattern, Gray matter heterotopia, Scoliosis, Periv... OMIM:601390
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Frontal polymicrogyria, Patent ductus arteriosus, Gray matter heterotopia, Pachygyria, Ventriculo... OMIM:620024
Acromelic Frontonasal Dysostosis
Hypopituitarism, Choroid plexus cyst, Gray matter heterotopia, Periventricular nodular heterotopi... OMIM:603671
Wars2-Related Combined Oxidative Phosphorylation Defect
Dilated fourth ventricle, Thin upper lip vermilion, Cardiomyopathy, Lateral ventricle dilatation,... ORPHA:572798
Joubert Syndrome With Hepatic Defect
Hydrocephalus, Abnormality of neuronal migration, Scoliosis ORPHA:1454
Genitourinary And/Or Brain Malformation Syndrome
Dysplastic corpus callosum, Gray matter heterotopia, Colpocephaly, Attention deficit hyperactivit... OMIM:618820
Brain-Lung-Thyroid Syndrome
Short attention span, Hyperactivity, Abnormal eating behavior, Abnormal drinking behavior, Compul... ORPHA:209905
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Lateral ventricle dilatation, Polyhydramnios OMIM:619847
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Periventricular heterotopia, Pachygyria, Abnormal repetitive mannerisms, Simplified gyral pattern... ORPHA:468631
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Lateral ventricle dilatation, Pulmonic stenosis OMIM:618914
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Dilated third ventricle, Predominantly lower limb lymphedema ORPHA:314404
Cog5-Cdg
Lateral ventricle dilatation, High palate, Oligohydramnios ORPHA:263487
Choreoacanthocytosis
Bradyphrenia, Short attention span, Self-mutilation of tongue and lips due to involuntary movemen... ORPHA:2388
Glutaric Acidemia I
Hydrocephalus, Lateral ventricle dilatation OMIM:231670
Bainbridge-Ropers Syndrome
Thin upper lip vermilion, Dental crowding, Intestinal malrotation, Polyhydramnios, Gingival overg... OMIM:615485
Bohring-Opitz Syndrome
Gray matter heterotopia, Failure to thrive, Agenesis of corpus callosum OMIM:605039
Neuromuscular Oculoauditory Syndrome
Agenesis of corpus callosum, Periventricular heterotopia OMIM:618733
Peroxisome Biogenesis Disorder 13A (Zellweger)
Gray matter heterotopia, Polymicrogyria OMIM:614887
Distal Deletion 10Q
Thin upper lip vermilion, Lumbar hyperlordosis, Cleft palate, Lateral ventricle dilatation, High ... ORPHA:96148
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Communicating hydrocephalus, Ventriculomegaly, Type II lissencephaly, Hydrocephalus, Gray matter ... OMIM:615287
Slc35A2-Cdg
Lateral ventricle dilatation, Scoliosis, Dandy-Walker malformation ORPHA:356961
Man1B1-Cdg
Periventricular heterotopia ORPHA:397941
Koolen-De Vries Syndrome
Vertebral fusion, Kyphosis, Patent ductus arteriosus, Gray matter heterotopia, Scoliosis, Ventric... OMIM:610443
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Short lingual frenulum, Lateral ventricle dilatation, Widely spaced teeth, Small pituitary gland,... OMIM:619479
Mismatch Repair Cancer Syndrome 1
Gray matter heterotopia, Agenesis of corpus callosum OMIM:276300
Meckel Syndrome, Type 6
Occipital encephalocele, Cleft upper lip, Hydrocephalus, Anencephaly, Cleft palate OMIM:612284
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Dysplastic corpus callosum, Lateral ventricle dilatation, Ventriculomegaly ORPHA:488627
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Kyphosis, Patent ductus arteriosus, Abnormality of neuronal migration, Posterior pituitary hypopl... ORPHA:464311
Khan-Khan-Katsanis Syndrome
Tricuspid regurgitation, Tented upper lip vermilion, Colpocephaly, Scoliosis, Triangular mouth, V... OMIM:618460
Fetal Akinesia Deformation Sequence
Intestinal hypoplasia, Polyhydramnios, Cleft palate, Scoliosis, Dandy-Walker malformation ORPHA:994
Thoracoabdominal Syndrome
Hydrocephalus, Anencephaly, Cleft palate, Cleft upper lip OMIM:313850
Congenital Disorder Of Glycosylation, Type Iim
Exaggerated cupid's bow, Hypertension, Lateral ventricle dilatation, Fused teeth, High palate, Sh... OMIM:300896
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Gray matter heterotopia OMIM:618797
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Gray matter heterotopia OMIM:608624
Opitz-Kaveggia Syndrome
Gray matter heterotopia, Partial agenesis of the corpus callosum, Attention deficit hyperactivity... OMIM:305450
Multiple Acyl-Coa Dehydrogenase Deficiency
Gray matter heterotopia, Hepatic periportal necrosis, Hyperlordosis ORPHA:26791
Orofaciodigital Syndrome Type 6
Failure to thrive, Abnormality of neuronal migration, Hypothalamic hamartoma ORPHA:2754
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects
Dental crowding, Open bite, Colpocephaly, High palate, Scoliosis OMIM:620083
Helsmoortel-Van Der Aa Syndrome
Decreased response to growth hormone stimulation test, High, narrow palate, Pineal cyst, Oligodon... OMIM:615873
Orofaciodigital Syndrome Vi
Hypothalamic hamartoma, Periventricular nodular heterotopia, Failure to thrive, Agenesis of corpu... OMIM:277170
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Lateral ventricle dilatation OMIM:607485
Flna-Related X-Linked Myxomatous Valvular Dysplasia
Patent ductus arteriosus, Periventricular nodular heterotopia, Scoliosis ORPHA:555877
Gabriele-De Vries Syndrome
Abnormality of the dentition, Pierre-Robin sequence, Thick lower lip vermilion, Lateral ventricle... OMIM:617557
Hartsfield Syndrome
Median cleft lip, Alobar holoprosencephaly, Cleft upper lip, Gonadotropin deficiency, Cleft palat... OMIM:615465
Vici Syndrome
Gray matter heterotopia, Failure to thrive, Agenesis of corpus callosum, Dysphagia OMIM:242840
Van Maldergem Syndrome 2
Gray matter heterotopia, Periventricular nodular heterotopia, Subcortical band heterotopia, Scoli... OMIM:615546
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Abnormal cortical gyration, Partial agenesis of the corpus callosum, Hydrocephalus, Microlissence... OMIM:210710
Weaver Syndrome
Kyphosis, Lateral ventricle dilatation, Scoliosis, Long philtrum, Ventriculomegaly OMIM:277590
Miller-Dieker Lissencephaly Syndrome
Gray matter heterotopia, Pachygyria, Lissencephaly, Agyria OMIM:247200
Bilateral Perisylvian Polymicrogyria
Ectopic posterior pituitary, Perisylvian predominant thick cortex pachygyria, Abnormality of neur... ORPHA:98889
Orofaciodigital Syndrome Xiv
Natal tooth, Occipital encephalocele, Hamartoma of tongue, Periventricular heterotopia, Cleft lip... OMIM:615948
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Polyhydramnios, Pierre-Robin sequence, Gingival overgrowth, Hydrops fetalis, Downturned corners o... OMIM:300868
Holoprosencephaly
Hydrocephalus, Abnormality of neuronal migration, Abnormal form of the vertebral bodies, Scoliosi... ORPHA:2162
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome
Thin upper lip vermilion, Abnormality of canine, Colpocephaly, Widely spaced teeth, Abnormal pala... ORPHA:477993
Peroxisome Biogenesis Disorder 1A (Zellweger)
Subependymal cysts, Gray matter heterotopia, Patent ductus arteriosus, Polymicrogyria OMIM:214100
Deafness, Unilateral, With Delayed Endolymphatic Hydrops
Edema OMIM:612097
Orofaciodigital Syndrome I
Gray matter heterotopia, Agenesis of corpus callosum, Abnormal cortical gyration, Hypothalamic ha... OMIM:311200
Smith-Lemli-Opitz Syndrome
Aganglionic megacolon, Dental crowding, Intestinal malrotation, Periventricular heterotopia, Pylo... OMIM:270400
Genitopatellar Syndrome
Delayed eruption of teeth, Anal stenosis, Polyhydramnios, Periventricular heterotopia, Malrotatio... OMIM:606170
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Abnormal lateral ventricle morphology, Hyperactivity, Impulsivity, Aggressive behavior, Abnormal ... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Abnormal lateral ventricle morphology, Hyperactivity, Impulsivity, Aggressive behavior, Abnormal ... ORPHA:353277
Periventricular Nodular Heterotopia 9
Gray matter heterotopia, Periventricular nodular heterotopia, Polymicrogyria OMIM:618918
Aprosencephaly And Cerebellar Dysgenesis
Aprosencephaly, Bifid uvula OMIM:601374
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Gray matter heterotopia, Vertebral segmentation defect, Scoliosis ORPHA:453499
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Progressive ventriculomegaly, Ventriculomegaly, Transient ischemic attack, Lumbar hyperlordosis, ... ORPHA:500150
Aprosencephaly Syndrome
Aprosencephaly, Anencephaly OMIM:207770
Neurocardiofaciodigital Syndrome
Dilated fourth ventricle, Lateral ventricle dilatation, Thin vermilion border, High palate OMIM:619869
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Vertebral segmentation defect, Abnormality of neuronal migration ORPHA:3186
Osteopetrosis, Autosomal Recessive 7
Hydrocephalus, Lateral ventricle dilatation OMIM:612301
Nijmegen Breakage Syndrome
Mental deterioration, Cachexia, Abnormality of neuronal migration, Attention deficit hyperactivit... ORPHA:647
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
Scalp-Ear-Nipple Syndrome
Palpebral edema, Congestive heart failure, Agenesis of permanent teeth, Hypertension, Lateral ven... OMIM:181270
Kabuki Syndrome 1
Anal stenosis, Intestinal malrotation, Abnormality of the dentition, Malabsorption, Hydrocephalus... OMIM:147920
Arima Syndrome
Dilated fourth ventricle, Gray matter heterotopia OMIM:243910
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Obesity, Social ... ORPHA:353281
Chromosome 1P36 Deletion Syndrome, Distal
Noncompaction cardiomyopathy, Cleft upper lip, Hydrocephalus, Submucous cleft hard palate, Polymi... OMIM:607872
Hydrolethalus Syndrome 1
Abnormal cortical gyration, Gray matter heterotopia, Severe hydrocephalus, Agenesis of corpus cal... OMIM:236680
Biliary, Renal, Neurologic, And Skeletal Syndrome
Aortic regurgitation, Tricuspid regurgitation, Left-to-right shunt, Anterior pituitary hypoplasia... OMIM:619534
Pagod Syndrome
Abnormality of neuronal migration ORPHA:991
Fontaine Progeroid Syndrome
Periventricular heterotopia, Patent ductus arteriosus, Hydrocephalus, Gray matter heterotopia, Pl... OMIM:612289
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Lateral ventricle dilatation OMIM:618367
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Dental crowding, Cleft hard palate, Short philtrum, Agenesis of corpus callosum, Bifid uvula, Abn... ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Dental crowding, Cleft hard palate, Short philtrum, Agenesis of corpus callosum, Bifid uvula, Abn... ORPHA:261552
Proteus Syndrome
Gray matter heterotopia, Kyphosis, Scoliosis, Abnormal form of the vertebral bodies ORPHA:744
Mowat-Wilson Syndrome
Decreased body weight, Periventricular heterotopia, Abnormal repetitive mannerisms, Dysphagia, Im... ORPHA:2152
Congenital Fibrosis Of Extraocular Muscles
Polymicrogyria ORPHA:45358

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 Tuba1a

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 Tuba1a.

No publications found that use IMPC mice or data for Tuba1a.

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Tuba1atm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Tuba1atm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Tuba1atm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Tuba1aem1(IMPC)Bay Inter-exon deletion Mice

The IMPC Newsletter

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

Subscribe to newsletter