Gene Summary

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

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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
preweaning lethality, incomplete penetrance Tuba1aem1(IMPC)Bay HOM   Early adult 0.00

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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 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
Agyria, Agenesis of corpus callosum, Gray matter heterotopia, Ventriculomegaly, Microcephaly, Lis... OMIM:611603

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Abnormal corpus callosum morphology, Schizencephaly, Hyperactivity, Gray matter heterotopia, Aggr... OMIM:604317
Intellectual Developmental Disorder, Autosomal Recessive 34, With Variant Lissencephaly
Lissencephaly, Pachygyria, Megalencephaly OMIM:614499
Cortical Dysplasia, Complex, With Other Brain Malformations 3
Agyria, Gray matter heterotopia, Subcortical band heterotopia, Microcephaly, Lissencephaly, Pachy... OMIM:615411
Cortical Dysplasia, Complex, With Other Brain Malformations 4
Agyria, Gray matter heterotopia, Subcortical band heterotopia, Microcephaly, Pachygyria, Cortical... OMIM:615412
Lissencephaly 1
Agyria, Gray matter heterotopia, Ventriculomegaly, Subcortical band heterotopia, Lissencephaly, P... OMIM:607432
Microcephalic Primordial Dwarfism Due To Znf335 Deficiency
Abnormal cerebral morphology, Small cerebral cortex, Ventriculomegaly, Simplified gyral pattern, ... ORPHA:329228
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Abnormal corpus callosum morphology, Ventriculomegaly, Abnormal vertebral morphology, Microcephal... OMIM:618709
Microlissencephaly
Cerebral dysmyelination, Subcortical heterotopia, Periventricular heterotopia, Ventriculomegaly, ... ORPHA:1083
Microcephaly 7, Primary, Autosomal Recessive
Simplified gyral pattern, Microcephaly OMIM:612703
Microcephaly 12, Primary, Autosomal Recessive
Simplified gyral pattern, Microcephaly OMIM:616080
Polymicrogyria, Bilateral Perisylvian, Autosomal Recessive
Perisylvian polymicrogyria, Enlarged sylvian cistern OMIM:615752
Sub-Cortical Nodular Heterotopia
Subcortical heterotopia, Abnormality of the basal ganglia, Agenesis of corpus callosum, Abnormal ... ORPHA:101029
Band Heterotopia
Agenesis of corpus callosum, Ventriculomegaly, Gray matter heterotopia, Subcortical band heteroto... OMIM:600348
Periventricular Heterotopia With Microcephaly, Autosomal Recessive
Progressive microcephaly, Periventricular nodular heterotopia, Periventricular heterotopia, Poor ... OMIM:608097
Isolated Lissencephaly Type 1 Without Known Genetic Defects
Agyria, Ventriculomegaly, Gray matter heterotopia, Pachygyria, Enlarged sylvian cistern ORPHA:1084
Chudley-Mccullough Syndrome
Hydrocephalus, Dysplastic corpus callosum, Ventriculomegaly, Gray matter heterotopia, Partial age... OMIM:604213
Lissencephaly 3
Agyria, Agenesis of corpus callosum, Gray matter heterotopia, Ventriculomegaly, Microcephaly, Lis... OMIM:611603
Severe Primary Trimethylaminuria
Anxiety, Negative affectivity, Aggressive behavior, Emotional lability, Low self esteem, Depression ORPHA:468726
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Polymicrogyria, Megalencephaly, Ventriculomegaly, Hydrocephalus OMIM:615938
Microcephaly 9, Primary, Autosomal Recessive
Microcephaly, Simplified gyral pattern, Impulsivity, Aggressive behavior OMIM:614852
Cortical Dysplasia, Complex, With Other Brain Malformations 5
Simplified gyral pattern, Ventriculomegaly, Cortical dysplasia, Hypoplasia of the corpus callosum OMIM:615763
Periventricular Nodular Heterotopia 6
Gray matter heterotopia, Periventricular nodular heterotopia OMIM:615544
Lissencephaly, X-Linked, 1
Agyria, Agenesis of corpus callosum, Gray matter heterotopia, Lissencephaly, Pachygyria OMIM:300067
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Cerebral atrophy, Progressive microcephaly, Hyperactivity, Microcephaly, Irritability, Hypoplasia... OMIM:616657
Nodular Neuronal Heterotopia
Abnormality of neuronal migration ORPHA:2149
Periventricular Nodular Heterotopia 8
Microcephaly, Periventricular nodular heterotopia OMIM:618185
Cortical Dysplasia, Complex, With Other Brain Malformations 10
Ventriculomegaly, Lissencephaly, Thick cerebral cortex, Hypoplasia of the corpus callosum, Perive... OMIM:618677
Bilateral Striopallidodentate Calcinosis
Cerebral calcification, Ventriculomegaly, Microcephaly, Abnormality of neuronal migration ORPHA:1980
Microcephaly 19, Primary, Autosomal Recessive
Simplified gyral pattern, Microcephaly, Ventriculomegaly, Hypoplasia of the corpus callosum OMIM:617800
Periventricular Nodular Heterotopia 7
Hypoplasia of the corpus callosum, Gray matter heterotopia, Cortical dysplasia, Periventricular n... OMIM:617201
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity, Progressive microcephaly OMIM:608443
Intellectual Developmental Disorder, Autosomal Dominant 33
Microcephaly, Hyperactivity, Decreased body weight OMIM:616311
Polymicrogyria Due To Tubb2B Mutation
Abnormal corpus callosum morphology, Hypoplasia of the corpus callosum, Abnormal caudate nucleus ... ORPHA:300573
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hypoplasia of the corpus callosum, Ventriculomegaly, Hemimegalencephaly, Hydrocephalus, Polymicro... OMIM:615937
Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity
Cerebral atrophy, Ventriculomegaly, Microcephaly, Lissencephaly, Pachygyria, Hypoplasia of the co... OMIM:618730
Symmetrical Thalamic Calcifications
Cerebral calcification, Cognitive impairment, Microcephaly, Failure to thrive, Abnormality of neu... ORPHA:1314
Cortical Dysplasia, Complex, With Other Brain Malformations 7
Agenesis of corpus callosum, Microcephaly, Lissencephaly, Frontoparietal cortical dysplasia, Pach... OMIM:610031
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity
Microcephaly, Periventricular nodular heterotopia OMIM:618572
Cortical Dysplasia, Complex, With Other Brain Malformations 1
Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Frontal polymicrogyria, Lissencep... OMIM:614039
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Short stepped shuffling gait, Shuffling gait, Inertia, Anxiety, Falls, Inappropriate behavior, Ap... ORPHA:412066
Mismatch Repair Cancer Syndrome 4
Agenesis of corpus callosum, Gray matter heterotopia OMIM:619101
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Ventriculomegaly, Polymicrogyria, Agenesis of corpus callosum, Primary microcephaly ORPHA:171703
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Gray matter heterotopia, Dysgyria, Hydrocephalus, Type II lissencephaly, Abnormal cerebral white ... ORPHA:352682
Microcephaly 3, Primary, Autosomal Recessive
Simplified gyral pattern, Microcephaly, Small cerebral cortex OMIM:604804
Polymicrogyria, Bilateral Temporooccipital
Polymicrogyria, Ventriculomegaly OMIM:612691
Lissencephaly 4
Simplified gyral pattern, Lissencephaly, Microcephaly, Agenesis of corpus callosum OMIM:614019
Polyrrhinia
Oral cleft, Dilation of lateral ventricles, Abnormal third ventricle morphology ORPHA:141091
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microcephaly, Polymicrogyria, Cortical dysplasia OMIM:615771
Microcephaly, Seizures, And Developmental Delay
Progressive microcephaly, Hyperactivity, Microcephaly, Simplified gyral pattern, Hypoplasia of th... OMIM:613402
3-Hydroxyisobutyric Aciduria
Microcephaly, Abnormality of neuronal migration, Congenital intracerebral calcification OMIM:236795
Distal 7Q11.23 Microdeletion Syndrome
Porencephalic cyst, Aggressive behavior, Microcephaly, Bipolar affective disorder, Attention defi... ORPHA:254351
Obsessive-Compulsive Disorder
Anxiety, Depression, Skin-picking OMIM:164230
Microcephaly 5, Primary, Autosomal Recessive
Agenesis of corpus callosum, Small cerebral cortex, Microcephaly, Simplified gyral pattern, Corti... OMIM:608716
Brain Small Vessel Disease 2
Subcortical heterotopia, Schizencephaly, Porencephalic cyst, Ventriculomegaly, Polymicrogyria OMIM:614483
Cortical Malformations, Occipital
Polymicrogyria, Pachygyria OMIM:614115
Lissencephaly 5
Hydrocephalus, Porencephalic cyst, Gray matter heterotopia, Subcortical band heterotopia, Hypopla... OMIM:615191
Autosomal Recessive Primary Microcephaly
Agenesis of corpus callosum, Hypoplasia of the frontal lobes, Gray matter heterotopia, Ventriculo... ORPHA:2512
Hemimegalencephaly
Focal cortical dysplasia, Hyperintensity of cerebral white matter on MRI, Gray matter heterotopia... ORPHA:99802
Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies
Cerebral atrophy, Agenesis of corpus callosum, Aggressive behavior, Microcephaly, Simplified gyra... OMIM:618492
Joubert Syndrome 13
Pachygyria OMIM:614173
Glycine Encephalopathy
Agenesis of corpus callosum, Hyperactivity, Aggressive behavior, Irritability, Impulsivity OMIM:605899
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Cerebral atrophy, High palate, Short philtrum, Kyphosis, Agenesis of corpus callosum, Long philtr... OMIM:619244
Miller-Dieker syndrome (MDS)
Microcephaly, Lissencephaly DECIPHER:21
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Polymicrogyria, Colpocephaly, Agenesis of corpus callosum ORPHA:250972
Peroxisome Biogenesis Disorder 6A (Zellweger)
Colpocephaly, Pachygyria OMIM:614870
Holoprosencephaly 5
Central diabetes insipidus, Semilobar holoprosencephaly, High palate, Holoprosencephaly, Lobar ho... OMIM:609637
Congenital Muscular Dystrophy Without Intellectual Disability
Ventriculomegaly, Gray matter heterotopia, Microcephaly, Pachygyria, Kyphoscoliosis, Abnormal cer... ORPHA:370980
Insulin-Like Growth Factor I Deficiency
Microcephaly, Hyperactivity, Decreased body weight OMIM:608747
Congenital Hydrocephalus
Abnormal cortical gyration, Colpocephaly, Small cerebral cortex, Ventriculomegaly, Lissencephaly,... ORPHA:2185
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Cerebral cortical atrophy, Periventricular white matter hyperintensities, Impulsiv... OMIM:301008
Glycosylphosphatidylinositol Biosynthesis Defect 17
Overfriendliness, Dysplastic corpus callosum, Aggressive behavior, Primary microcephaly OMIM:618010
Intellectual Developmental Disorder, X-Linked 103
Polymicrogyria, Dilation of lateral ventricles OMIM:300982
Alg13-Cdg
Long philtrum, Abnormal lateral ventricle morphology ORPHA:324422
Periventricular Nodular Heterotopia 1
Abnormality of neuronal migration, Gray matter heterotopia, Patent ductus arteriosus OMIM:300049
Intellectual Developmental Disorder, Autosomal Dominant 43
Cerebral atrophy, Anxiety, Hyperactivity, Microcephaly, Hypoplasia of the corpus callosum, Impuls... OMIM:616977
Microcephaly, Corpus Callosum Dysgenesis, And Cleft Lip/Palate
Microcephaly, Cleft upper lip, Cleft palate, Hypoplasia of the corpus callosum OMIM:601420
Maternal Hyperthermia-Induced Birth Defects
Microcephaly, Abnormality of neuronal migration ORPHA:2216
Neu-Laxova Syndrome 2
Microcephaly, High palate, Scoliosis, Cleft palate OMIM:616038
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Aggressive behavior, Microcephaly, Simplified gyral pattern, Periventricular white... OMIM:619470
Autosomal Recessive Non-Syndromic Intellectual Disability
Cerebral atrophy, Hyperactivity, Microcephaly, Polymicrogyria, Cortical dysplasia, Hypoplasia of ... ORPHA:88616
Dihydropyrimidine Dehydrogenase Deficiency
Cerebral atrophy, Agenesis of corpus callosum, Hyperactivity, Microcephaly, Failure to thrive OMIM:274270
Epilepsy, Progressive Myoclonic, 12
Dysmetria, Anxiety, Ataxia, Depression, Difficulty walking, Attention deficit hyperactivity disorder OMIM:619191
Intellectual Developmental Disorder, X-Linked 104
Hyperactivity, Aggressive behavior, Poor eye contact, Cerebral cortical atrophy, Hypoplasia of th... OMIM:300983
Chorea, Benign Hereditary
Anxiety, Gait disturbance OMIM:118700
Unilateral Hemispheric Polymicrogyria
Thick cerebral cortex, Dilation of lateral ventricles, Cortical dysplasia, Cerebral hypoplasia ORPHA:101071
Ck Syndrome
Slender build, Hyperactivity, Aggressive behavior, Microcephaly, Irritability, Abnormal cerebral ... ORPHA:251383
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Anxiety, Hyperactivity, Aggressive behavior OMIM:619031
X-Linked Parkinsonism-Spasticity Syndrome
Dilated third ventricle, Dilation of lateral ventricles, Diffuse cerebral atrophy ORPHA:363654
Peho-Like Syndrome
Progressive microcephaly, Open mouth, Ventriculomegaly, Lissencephaly, Pachygyria, Hypoplasia of ... OMIM:617507
Isolated Focal Cortical Dysplasia
Abnormal cortical gyration, Cognitive impairment, Psychomotor deterioration, Hyperintensity of ce... ORPHA:65683
Intellectual Developmental Disorder, Autosomal Dominant 13
Microcephaly, Pachygyria, Abnormality of neuronal migration, Hypoplasia of the corpus callosum OMIM:614563
Pandas
Abnormal fear/anxiety-related behavior, Emotional lability, Irritability, Separation insecurity, ... ORPHA:66624
Omphalocele-Cleft Palate Syndrome, Lethal
Bifid uvula, Cleft palate, Hydrocephalus OMIM:258320
Lissencephaly 6 With Microcephaly
Periventricular heterotopia, Ventriculomegaly, Simplified gyral pattern, Lissencephaly, Microceph... OMIM:616212
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Large for gestational age, Hyperactivity, Aggressive behavior ORPHA:356996
Aminoacylase 1 Deficiency
Cerebral atrophy, Hyperactivity OMIM:609924
Huntington Disease-Like 1
Dysmetria, Basal ganglia gliosis, Anxiety, Aggressive behavior, Unsteady gait, Depression OMIM:603218
Progressive Non-Fluent Aphasia
Abnormal lower motor neuron morphology, Memory impairment, Anxiety, Frontotemporal dementia, Ment... ORPHA:100070
Juvenile Huntington Disease
Dementia, Hyperactivity, Irritability, Neuronal loss in basal ganglia, Depression, Weight loss, A... ORPHA:248111
Chromosome 3Q29 Deletion Syndrome
Small for gestational age, Anxiety, Hyperactivity, Aggressive behavior, Microcephaly, Failure to ... OMIM:609425
Phenylketonuria
Cerebral calcification, Anxiety, Hyperactivity, Aggressive behavior, Microcephaly, Irritability, ... OMIM:261600
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Short philtrum, Colpocephaly, Cervical platyspondyly, Microcephaly, Scoliosis, Tooth agenesis, Ma... OMIM:618731
Intellectual Developmental Disorder, Autosomal Dominant 52
Anxiety, Hyperactivity OMIM:617796
Hypomelanosis Of Ito
Cerebral atrophy, Kyphosis, Gray matter heterotopia, Microcephaly, Scoliosis OMIM:300337
Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies
Abnormal cortical gyration, Microcephaly, Polymicrogyria OMIM:619602
Cntnap2-Related Developmental And Epileptic Encephalopathy
Low frustration tolerance, Progressive language deterioration, Hyperactivity, Obesity, Mental det... ORPHA:163681
Acalvaria
Spina bifida, Cleft palate, Hydrocephalus, Holoprosencephaly, Abnormality of neuronal migration ORPHA:945
Intellectual Developmental Disorder, X-Linked 109
Microcephaly, Hyperactivity, Impulsivity, Aggressive behavior OMIM:309548
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Agenesis of corpus callosum, Hyperactivity, Aggressive behavior, Microcephaly, Failure to thrive,... OMIM:615286
X-Linked Intellectual Disability, Abidi Type
Microcephaly, Scoliosis, Cleft palate, Non-midline cleft lip ORPHA:85273
Hyperlysinemia, Type I
Hyperactivity, Cognitive impairment OMIM:238700
Weaver-Williams Syndrome
Microcephaly, Cleft palate, Narrow mouth ORPHA:3448
Lissencephaly 2
Microcephaly, Lissencephaly, Thick cerebral cortex, 4-layered lissencephaly OMIM:257320
Xq25 Microduplication Syndrome
Anxiety, Hyperactivity, Hypoplasia of the corpus callosum ORPHA:521258
Chromosome Xq25 Duplication Syndrome
Anxiety, Hyperactivity, Hypoplasia of the corpus callosum OMIM:300979
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Communicating hydrocephalus, Colpocephaly, Gray matter heterotopia, Ventriculomegaly, Simplified ... OMIM:615219
Muscular Dystrophy, Congenital Merosin-Deficient, 1A
Abnormal cortical gyration, Kyphoscoliosis, Hypointensity of cerebral white matter on MRI OMIM:607855
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Thin upper lip vermilion, Abnormal lateral ventricle morphology, Hypoplasia of the corpus callosum ORPHA:488635
Encephalopathy, Progressive, With Or Without Lipodystrophy
Cerebral atrophy, Hyperactivity, Mental deterioration OMIM:615924
Dysplastic Cortical Hyperostosis
Microcephaly, Abnormality of neuronal migration ORPHA:2204
Intellectual Developmental Disorder, X-Linked 12
Small for gestational age, Anxiety, Truncal obesity, Microcephaly, Increased body mass index, Dep... OMIM:300957
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617600
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Tetrasomy 18P
Microcephaly, Scoliosis, Abnormality of neuronal migration ORPHA:3307
Microphthalmia, Syndromic 11
Agenesis of pineal gland, Cleft upper lip, Agenesis of corpus callosum, Cleft palate OMIM:614402
Central Neurocytoma
Cerebral calcification, Abnormal lateral ventricle morphology, Hydrocephalus ORPHA:73256
Hypotonia, Infantile, With Psychomotor Retardation
Open mouth, Dilation of lateral ventricles, Hypoplasia of the corpus callosum OMIM:616816
Isolated Dandy-Walker Malformation
Aplasia/Hypoplasia of the corpus callosum, Dandy-Walker malformation, Encephalocele, Cleft palate ORPHA:217
Adducted Thumbs Syndrome
Cerebral dysmyelination, High palate, Velopharyngeal insufficiency, High, narrow palate, Microcep... OMIM:201550
Subependymal Nodular Heterotopia
Focal cortical dysplasia, Gray matter heterotopia, Partial agenesis of the corpus callosum, Polym... ORPHA:101030
Polymicrogyria, Bilateral Perisylvian, X-Linked
Polymicrogyria OMIM:300388
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Aggressive behavior OMIM:615493
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Cerebral atrophy, Short philtrum, Dilated third ventricle, Partial agenesis of the corpus callosu... OMIM:617296
Ck Syndrome
Slender build, Hyperactivity, Aggressive behavior, Microcephaly, Irritability, Pachygyria, Polymi... OMIM:300831
Hemiparkinsonism-Hemiatrophy Syndrome
Dilation of lateral ventricles, Cerebral cortical hemiatrophy, Scoliosis ORPHA:306669
Hydrolethalus Syndrome 2
Agenesis of corpus callosum, Anencephaly, Ventriculomegaly, Hydrocephalus, Cleft palate OMIM:614120
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Dilation of lateral ventricles, Agenesis of corpus callosum, Meckel diverticulum, Hydrocephalus OMIM:300864
Pontocerebellar Hypoplasia, Type 13
High palate, Short philtrum, Macrodontia, Hypoplastic hippocampus, Thick upper lip vermilion, Ple... OMIM:618606
Pitt-Hopkins-Like Syndrome 1
Impaired social interactions, Focal cortical dysplasia, Progressive language deterioration, Hyper... OMIM:610042
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Abnormal periventricular white matter morphology, Pachygyria, Abnormality of neuronal migration OMIM:608840
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Reduced amygdala volume, Hypoplastic hippocampus, Tented upper lip vermilion, Microcephaly, Parti... OMIM:619517
Lissencephaly Syndrome, Norman-Roberts Type
Cerebral calcification, Agenesis of corpus callosum, Primary microcephaly, Hypoplasia of the corp... ORPHA:89844
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Hyperactivity, Cerebral white matter atrophy, Aggressive behavior, Microcephaly, Failure to thriv... ORPHA:369939
Pyruvate Dehydrogenase E1-Beta Deficiency
Periventricular cysts, Agenesis of corpus callosum, Periventricular heterotopia, Ventriculomegaly... ORPHA:255138
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Agenesis of corpus callosum, Anencephaly, Gray matter heterotopia, Ventriculomegaly, Dandy-Walker... OMIM:615287
Poretti-Boltshauser Syndrome
Abnormal periventricular white matter morphology, Gray matter heterotopia, Dilated fourth ventricle OMIM:615960
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Microcephaly, Ventriculomegaly, Abnormality of neuronal migration ORPHA:2772
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Kyphosis, Agenesis of corpus callosum, Periventricular heterotopia, Ventriculomegaly, Platyspondy... OMIM:618476
Basal Ganglia Calcification, Idiopathic, 5
Cognitive impairment, Anxiety, Dementia, Basal ganglia calcification, Apathy, Depression OMIM:615483
Autosomal Recessive Spastic Paraplegia Type 66
Colpocephaly, Hypoplasia of the corpus callosum ORPHA:401815
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity, Abnormal social behavior ORPHA:436151
Joubert Syndrome 30
Dandy-Walker malformation, Ventriculomegaly, Gray matter heterotopia OMIM:617622
Intellectual Developmental Disorder, Autosomal Dominant 48
Dilated fourth ventricle, Open mouth, Microcephaly, Polymicrogyria, Hypoplasia of the corpus call... OMIM:617751
Oculocerebrocutaneous Syndrome
Dandy-Walker malformation, Gray matter heterotopia, Agenesis of corpus callosum, Hypoplasia of th... OMIM:164180
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Microcephaly, Hyperactivity, Decreased body weight, Aggressive behavior OMIM:618342
Anencephaly 2
Cleft of alveolar ridge of maxilla, Anencephaly, Median cleft palate, Median cleft lip OMIM:619452
Focal Facial Dermal Dysplasia Type Iv
Cleft upper lip, Microcephaly, Hydrocephalus, Intracranial hemorrhage, Cleft palate ORPHA:398189
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Agenesis of corpus callosum, Microcephaly, Dandy-Walker malformation, Scoliosis, Spina bifida occ... OMIM:618736
Holoprosencephaly 11
Agenesis of corpus callosum, Cleft lip, Microcephaly, Holoprosencephaly, Cleft palate OMIM:614226
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Hyperactivity, Aggressive behavior, Microcephaly, Cortical dysplasia, Hypoplasia of the corpus ca... ORPHA:457260
Basel-Vanagaite-Smirin-Yosef Syndrome
Cerebral atrophy, Short philtrum, Kyphosis, Agenesis of corpus callosum, Cavum septum pellucidum,... ORPHA:464738
Midline Malformations, Multiple, With Limb Abnormalities And Hypopituitarism
Dysplastic corpus callosum, Cleft upper lip, Anterior hypopituitarism, Cleft palate OMIM:601016
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Hyperactivity, Hypoplasia of the corpus callosum OMIM:618090
Alg2-Cdg
Hyperintensity of cerebral white matter on MRI, Microcephaly, Abnormal basal ganglia MRI signal i... ORPHA:79326
Rasmussen Subacute Encephalitis
Cognitive impairment, Abnormality of the basal ganglia, Cerebral cortical hemiatrophy, Focal cort... ORPHA:1929
Martsolf Syndrome 2
Microcephaly, Dilation of lateral ventricles, Hypoplasia of the corpus callosum OMIM:619420
Cerebral Palsy, Spastic Quadriplegic, 3
Microcephaly, Gray matter heterotopia OMIM:617008
Aicardi Syndrome
Hiatus hernia, Block vertebrae, Cleft upper lip, Choroid plexus cyst, Cavum septum pellucidum, Di... OMIM:304050
Li-Ghorbani-Weisz-Hubshman Syndrome
Periventricular heterotopia, Ventriculomegaly, Patent ductus arteriosus, Hypoplasia of the corpus... OMIM:618974
Acromelic Frontonasal Dysostosis
Agenesis of corpus callosum, Choroid plexus cyst, Periventricular nodular heterotopia, Hypopituit... OMIM:603671
Intellectual Developmental Disorder, Autosomal Recessive 61
Secondary microcephaly, Hyperactivity, Aggressive behavior, Hypoplasia of the corpus callosum OMIM:617773
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Microcephaly, Scoliosis, Cerebral cortical atrophy, Abnormality of neuronal migration ORPHA:2518
Clcn4-Related X-Linked Intellectual Disability Syndrome
Hypoplasia of the corpus callosum, Self-injurious behavior, Anxiety, Hyperactivity, Aggressive be... ORPHA:485350
Thanatophoric Dysplasia Type 2
Kyphosis, Patent ductus arteriosus, Ventriculomegaly, Platyspondyly, Hydrocephalus, Abnormality o... ORPHA:93274
Peroxisome Biogenesis Disorder 13A (Zellweger)
Abnormality of neuronal migration OMIM:614887
Diprosopus
Anencephaly, Cleft palate, Non-midline cleft lip ORPHA:1681
17Q12 Microduplication Syndrome
Tracheoesophageal fistula, Abnormal vertebral morphology, Polyhydramnios, Cortical dysplasia, Cle... ORPHA:261272
16Q24.3 Microdeletion Syndrome
Dilated cardiomyopathy, High palate, Colpocephaly, Kyphosis, Long philtrum, Solitary median maxil... ORPHA:261250
Lissencephaly Type 1 Due To Doublecortin Gene Mutation
Agyria, Abnormal caudate nucleus morphology, Cerebral white matter atrophy, Scoliosis, Pachygyria... ORPHA:2148
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Abdominal obesity, Mood swings, Hyperactivity, Aggressive behavior, Simplified gyral pattern, Cor... OMIM:300354
Intellectual Developmental Disorder, Autosomal Recessive 13
Secondary microcephaly, Hyperactivity, Truncal obesity, Hypoplasia of the corpus callosum OMIM:613192
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Dysplastic corpus callosum, Decreased body weight, Agenesis of corpus callosum, Microcephaly, Lis... OMIM:614833
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Ectopic anus, Non-midline cleft lip, Anencephaly, Spina bifida, Cleft palate ORPHA:2476
Congenital Muscular Dystrophy With Cerebellar Involvement
Agenesis of corpus callosum, Dilated fourth ventricle, Gray matter heterotopia, Ventriculomegaly,... ORPHA:370959
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Shuffling gait, Abnormal aggressive, impulsive or violent behavior, Hyperactivity, Aggressive beh... ORPHA:3077
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Microcephaly, Dilation of lateral ventricles, Hypoplasia of the corpus callosum OMIM:618890
16P13.2 Microdeletion Syndrome
Hydrocephalus, Kyphosis, Dilated third ventricle, Cerebral white matter atrophy, Ventriculomegaly... ORPHA:500055
Pallister-Hall-Like Syndrome
Hypothalamic hamartoma, Occipital encephalocele, Anterior hypopituitarism, Microglossia, Hydrocep... OMIM:241800
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Bifid uvula, Cleft upper lip, Ventriculomegaly, Microcephaly, Scoliosis, Hypoplasia of the corpus... OMIM:300958
Linear Skin Defects With Multiple Congenital Anomalies 3
Dilated cardiomyopathy, Ventricular fibrillation, Cardiac arrest, Agenesis of corpus callosum, Ve... OMIM:300952
D-2-Hydroxyglutaric Aciduria 1
Aortic regurgitation, Cardiomyopathy, Dilation of lateral ventricles, Multifocal cerebral white m... OMIM:600721
Pseudo-Torch Syndrome 2
Cerebral calcification, Bradycardia, Gray matter heterotopia, Pleural effusion, Ventriculomegaly,... OMIM:617397
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Microcephaly, Hyperactivity OMIM:300434
Autosomal Dominant Non-Syndromic Intellectual Disability
Cerebral atrophy, Abnormal hippocampus morphology, Leukoencephalopathy, Bilateral generalized pol... ORPHA:178469
Intellectual Developmental Disorder, Autosomal Recessive 39
Microcephaly, Hyperactivity, Aggressive behavior OMIM:615541
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Agyria, Hydrocephalus, Subcortical heterotopia, Gray matter heterotopia, Ventriculomegaly, Dandy-... OMIM:614643
Basel-Vanagaite-Smirin-Yosef Syndrome
Short philtrum, Kyphosis, Everted lower lip vermilion, Tented upper lip vermilion, Ventriculomega... OMIM:616449
Metatropic Dysplasia
Kyphosis, Abnormal form of the vertebral bodies, Hypoplastic cervical vertebrae, Scoliosis, Hydro... ORPHA:2635
Walker-Warburg Syndrome
Abnormal cortical gyration, Agenesis of corpus callosum, Ventriculomegaly, Microcephaly, Lissence... ORPHA:899
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Microcephaly, Dilated third ventricle, Abnormal periventricular white matter morphology OMIM:619725
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Cerebral atrophy, Hyperintensity of cerebral white matter on MRI, Hyperactivity, Aggressive behav... ORPHA:500180
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Agenesis of corpus callosum, Periventricular heterotopia, Self-injurious behavior, Anxiety, Impul... OMIM:618929
Thanatophoric Dysplasia
Kyphosis, Patent ductus arteriosus, Ventriculomegaly, Gray matter heterotopia, Platyspondyly, Hyd... ORPHA:2655
Microphthalmia-Brain Atrophy Syndrome
Microcephaly, Dilation of lateral ventricles, Diffuse cerebral atrophy, Corpus callosum atrophy ORPHA:77299
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Happy demeanor, Hyperactivity, Obesity, Inappropriate laughter, Cessation of head growth ORPHA:411515
Glutamine Deficiency, Congenital
Neonatal death, Hypoplasia of the corpus callosum, Bradycardia, Dilation of lateral ventricles, T... OMIM:610015
Smith-Magenis syndrome
Hyperactivity, Self-mutilation DECIPHER:8
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Dysplastic corpus callosum, Periventricular cysts, Hyperintensity of cerebral white matter on MRI... ORPHA:544488
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Short philtrum, Cavum septum pellucidum, Retinal neovascularization, Ventriculomegaly, Partial ag... OMIM:619074
Holoprosencephaly 13, X-Linked
Semilobar holoprosencephaly, Septo-optic dysplasia, Colpocephaly, Agenesis of corpus callosum, Ve... OMIM:301043
Malan Overgrowth Syndrome
Narrow mouth, High palate, Ventriculomegaly, Scoliosis, Hypoplasia of the corpus callosum, Dilati... ORPHA:420179
Leber Congenital Amaurosis
Abnormality of neuronal migration ORPHA:65
X-Linked Intellectual Disability, Wilson Type
Microcephaly, Dilation of lateral ventricles, Wide mouth, Thick vermilion border ORPHA:85290
Early-Onset Autosomal Dominant Alzheimer Disease
Semantic dementia, Neurofibrillary tangles, Memory impairment, Disinhibition, Abnormal social beh... ORPHA:1020
Developmental Delay With Variable Neurologic And Brain Abnormalities
Microcephaly, Gray matter heterotopia, Thin corpus callosum OMIM:619694
Monosomy 18P
Short philtrum, Hypodontia, Carious teeth, Microcephaly, Lymphedema, Hypertension, Kyphoscoliosis... ORPHA:1598
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Primary microcephaly, Simplified gyral pattern, Lissencephaly, Hypoplasia of the corpus callosum,... ORPHA:284417
Pyruvate Dehydrogenase E1-Alpha Deficiency
Cerebral atrophy, Agenesis of corpus callosum, Basal ganglia cysts, Basal ganglia gliosis, Basal ... ORPHA:79243
Optic Atrophy 11
Microcephaly, Leukoencephalopathy, Hyperactivity OMIM:617302
9Q21.13 Microdeletion Syndrome
Aplasia/Hypoplasia of the corpus callosum, Vertebral segmentation defect, Scoliosis, Gray matter ... ORPHA:531151
Hartsfield Syndrome
Non-midline cleft lip, Aplasia/Hypoplasia of the corpus callosum, Lobar holoprosencephaly, Cleft ... ORPHA:2117
Intellectual Developmental Disorder, Autosomal Dominant 7
Happy demeanor, Failure to thrive in infancy, Small for gestational age, Hyperactivity, Inappropr... OMIM:614104
Alazami-Yuan Syndrome
Microcephaly, Hyperactivity OMIM:617126
Hydrolethalus
Bifid uvula, Agenesis of corpus callosum, Anencephaly, Unilateral cleft lip, Submucous cleft hard... ORPHA:2189
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Short philtrum, Abnormal caudate nucleus morphology, Choroid plexus cyst, Cleft soft palate, Prim... ORPHA:293725
Coffin-Siris Syndrome 8
Self-injurious behavior, Failure to thrive, Hyperactivity, Aggressive behavior OMIM:618362
Ventriculomegaly With Cystic Kidney Disease
Ventriculomegaly, Gray matter heterotopia, Hydrocephalus OMIM:219730
Combined Oxidative Phosphorylation Defect Type 39
Cerebral atrophy, Abnormal corpus callosum morphology, Drooling, Hyperintensity of cerebral white... ORPHA:565624
Periventricular Nodular Heterotopia
Periventricular heterotopia, Scoliosis, Patent ductus arteriosus ORPHA:98892
Edinburgh Malformation Syndrome
Abnormality of neuronal migration, Hydrocephalus ORPHA:1895
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Microcephaly, Self-injurious behavior, Hyperactivity, Paroxysmal bursts of laughter OMIM:618718
Alg11-Cdg
Impaired social interactions, Cerebral atrophy, Cerebral white matter atrophy, Gray matter hetero... ORPHA:280071
Chromosome 6Q24-Q25 Deletion Syndrome
High palate, Probst bundles, Agenesis of corpus callosum, Long philtrum, Persistent fetal circula... OMIM:612863
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Failure to thrive, Happy demeanor, Hyperactivity, Progressive microcephaly OMIM:617865
Joubert Syndrome
Abnormal form of the vertebral bodies, Aplasia/Hypoplasia of the corpus callosum, Scoliosis, Hydr... ORPHA:475
Early-Onset Schizophrenia
Suicidal ideation, Cognitive impairment, Lack of peer relationships, No social interaction, Unhap... ORPHA:96369
Paganini-Miozzo Syndrome
Dilation of lateral ventricles, Thin vermilion border, Downturned corners of mouth OMIM:301025
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Small pituitary gland, Cleft palate OMIM:614880
Cln5 Disease
Anxiety, Hyperactivity, Mental deterioration, Aggressive behavior, Cerebral cortical atrophy, Cor... ORPHA:228360
Thanatophoric Dysplasia, Type I
Severe platyspondyly, Gray matter heterotopia, Hydrocephalus OMIM:187600
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Microcephaly, Hyperactivity, Aggressive behavior OMIM:612716
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Normal pressure hydrocephalus, High palate, Thoracic scoliosis, Abnormality of the basal ganglia,... ORPHA:300570
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Hyperactivity, Aggressive behavior, Microcephaly, Irritability, Hypoplasia of the corpus callosum... ORPHA:391307
Landau-Kleffner Syndrome
Memory impairment, Anxiety, Hyperactivity, Aggressive behavior, Emotional lability, Social and oc... ORPHA:98818
Holoprosencephaly-Caudal Dysgenesis Syndrome
Abnormality of the diencephalon, Microcephaly, Holoprosencephaly, Cleft palate, Median cleft lip ORPHA:2165
Bilateral Generalized Polymicrogyria
Abnormal hippocampus morphology, Hypoplastic hippocampus, Impaired mastication, Microcephaly, Hyp... ORPHA:208447
Aase-Smith Syndrome I
Dandy-Walker malformation, Open mouth, Cleft palate, Hydrocephalus OMIM:147800
Morm Syndrome
Hyperactivity, Aggressive behavior, Truncal obesity ORPHA:75858
Desmosterolosis
Abnormal cortical gyration, Agenesis of corpus callosum, Patent ductus arteriosus, Ventriculomega... ORPHA:35107
Chiari Malformation Type Ii
Agenesis of corpus callosum, Gray matter heterotopia, Hydrocephalus OMIM:207950
Bresek Syndrome
Aganglionic megacolon, Microcephaly, Scoliosis, Hydrocephalus, Neonatal death, Hemivertebrae, Cle... ORPHA:85284
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Microcephaly, Bifid uvula, Cleft palate, Submucous cleft hard palate ORPHA:2521
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Abnormal corpus callosum morphology, Colpocephaly, Abnormality of the basal ganglia, Small cervic... ORPHA:397715
Radio-Tartaglia Syndrome
Agenesis of corpus callosum, Obesity, Gray matter heterotopia, Aggressive behavior, Poor eye cont... OMIM:619312
Spondyloenchondrodysplasia
Cerebral calcification, Kyphosis, Delayed eruption of teeth, Ventriculomegaly, Abnormal lateral v... ORPHA:1855
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Cerebral atrophy, Predominantly lower limb lymphedema, Dilated third ventricle, Abnormal cerebral... ORPHA:314404
Gm2 Gangliosidosis, Ab Variant
Cerebral atrophy, Cognitive impairment, Anxiety, Inappropriate behavior, Abnormal fear/anxiety-re... ORPHA:309246
Schisis Association
Anencephaly, Tracheoesophageal fistula, Unilateral cleft lip, Anal atresia, Microcephaly, Spina b... ORPHA:63862
Intellectual Developmental Disorder, X-Linked 30
Microcephaly, Anxiety, Hyperactivity, Aggressive behavior OMIM:300558
Weiss-Kruszka Syndrome
Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly, Exaggerated cupid's bow, Broad philt... OMIM:618619
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Hematochezia, Short philtrum, Dilated third ventricle, High, narrow palate, Hydrocephalus, Dilati... OMIM:619575
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Bifid uvula, Hypertrophic cardiomyopathy, Macroglossia, Microcephaly, Lissencephaly, Dandy-Walker... OMIM:612938
Neurocutaneous Melanocytosis
Dandy-Walker malformation, Ventriculomegaly, Abnormality of neuronal migration ORPHA:2481
Orofaciodigital Syndrome Type 14
Accessory oral frenulum, Dilated fourth ventricle, Periventricular heterotopia, Dilated third ven... ORPHA:434179
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Microcephaly, Dilation of lateral ventricles OMIM:619278
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uvula, Cleft soft palate, Unilateral cleft lip, Hydrocephalus, Cleft palate ORPHA:2736
Autosomal Recessive Spastic Paraplegia Type 11
Orthostatic hypotension, Abnormal substantia nigra morphology, Hyperintensity of cerebral white m... ORPHA:2822
Ventriculomegaly With Defects Of The Radius And Kidney
Dilation of lateral ventricles, Ventriculomegaly, Hydrocephalus OMIM:602200
Goldberg-Shprintzen Megacolon Syndrome
Aganglionic megacolon, Ventriculomegaly, Microcephaly, Pachygyria, Hypoplasia of the corpus callo... ORPHA:66629
Lennox-Gastaut Syndrome
Hyperactivity, Mental deterioration, Personality disorder, Aggressive behavior ORPHA:2382
Late Infantile Neuronal Ceroid Lipofuscinosis
Cerebral atrophy, Low frustration tolerance, Anxiety, Dementia, Motor deterioration, Mental deter... ORPHA:168491
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Coronal cleft vertebrae, Patent ductus arteriosus, Periventricular heterotopia, Hyperlordosis, Ve... OMIM:618870
Joubert Syndrome With Oculorenal Defect
Aplasia/Hypoplasia of the corpus callosum, Scoliosis, Abnormality of neuronal migration, Hydrocep... ORPHA:2318
Adenylosuccinase Deficiency
Cerebral atrophy, Happy demeanor, Hyperactivity, Aggressive behavior, Inappropriate laughter, Mic... OMIM:103050
Fraxe Intellectual Disability
Hyperactivity, Impulsivity, Aggressive behavior ORPHA:100973
Cach Syndrome
Cerebral atrophy, T2 hypointense thalamus, Dysgyria, Microcephaly, Dilation of lateral ventricles... ORPHA:135
Severe Neurodegenerative Syndrome With Lipodystrophy
Cerebral atrophy, Cognitive impairment, Caudate atrophy, Hyperactivity, Progressive psychomotor d... ORPHA:363400
Potocki-Lupski Syndrome
Small for gestational age, Hyperactivity, Poor eye contact, Microcephaly, Failure to thrive, Hypo... OMIM:610883
Triploidy
Narrow mouth, Non-midline cleft lip, Aplasia/Hypoplasia of the corpus callosum, Intestinal malrot... ORPHA:3376
Carey-Fineman-Ziter Syndrome
Cerebral calcification, Aplasia/Hypoplasia of the tongue, Pierre-Robin sequence, High palate, Lon... ORPHA:1358
Pai Syndrome
Bifid uvula, Aplasia/Hypoplasia of the corpus callosum, Median cleft lip, Abnormal oral frenulum ... ORPHA:1993
Fragile X Syndrome
Periventricular heterotopia, Scoliosis OMIM:300624
Noonan Syndrome 14
Kyphosis, Aortic regurgitation, Long philtrum, Hypertrophic cardiomyopathy, Pulmonic stenosis, Hi... OMIM:619745
Carnitine Palmitoyltransferase Ii Deficiency
Cerebral calcification, Abnormality of the basal ganglia, Agenesis of corpus callosum, Pachygyria... ORPHA:157
Neu-Laxova Syndrome
Abnormal cortical gyration, Cerebral calcification, Ventriculomegaly, Microcephaly, Lissencephaly... ORPHA:2671
Infantile Neuroaxonal Dystrophy
Iron accumulation in globus pallidus, Psychomotor deterioration, Hyperactivity, Mental deteriorat... ORPHA:35069
Van Der Woude Syndrome 1
Bifid uvula, Cleft upper lip, Lower lip pit, Hypodontia, Cleft palate OMIM:119300
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Impaired social interactions, Low frustration tolerance, Agenesis of corpus callosum, Hyperactivi... OMIM:309520
Genitopalatocardiac Syndrome
Kyphosis, Non-midline cleft lip, Microcephaly, Scoliosis, Hydrocephalus, Downturned corners of mo... ORPHA:2075
Meckel Syndrome, Type 4
Hypoplasia of the corpus callosum, Anencephaly, Microcephaly, Dandy-Walker malformation, Hydrocep... OMIM:611134
Autism Spectrum Disorder Due To Auts2 Deficiency
Microcephaly, Hyperactivity, Small for gestational age, Attention deficit hyperactivity disorder ORPHA:352490
Enlarged Parietal Foramina
Myelomeningocele, Occipital encephalocele, Encephalomalacia, Cleft lip, Cleft palate ORPHA:60015
Cerebrofaciothoracic Dysplasia
Cleft upper lip, Ventriculomegaly, Polyhydramnios, Scoliosis, Cerebral cortical atrophy, Broad ph... ORPHA:1394
Rubinstein-Taybi Syndrome 2
Microcephaly, Hyperactivity OMIM:613684
Galloway-Mowat Syndrome
Microcephaly, Aqueductal stenosis, Pachygyria, Abnormality of neuronal migration ORPHA:2065
Orofaciodigital Syndrome Xvi
Ventriculomegaly, Gray matter heterotopia OMIM:617563
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Cerebral calcification, Abnormality of the basal ganglia, Agenesis of corpus callosum, Ventriculo... ORPHA:228308
Intellectual Developmental Disorder, Autosomal Dominant 26
Microcephaly, Hyperactivity, Small for gestational age OMIM:615834
Aicardi-Goutieres Syndrome 9
Cerebral calcification, Cerebral atrophy, Portal hypertension, Ascites, Diffuse leukoencephalopat... OMIM:619487
Thanatophoric Dysplasia Type 1
Kyphosis, Patent ductus arteriosus, Ventriculomegaly, Gray matter heterotopia, Platyspondyly, Hyd... ORPHA:1860
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Microcephaly, Failure to thrive, Hyperactivity OMIM:619239
Cleft Lip/Palate
Abnormal number of permanent teeth, Velopharyngeal insufficiency, Peg-shaped maxillary lateral in... ORPHA:199306
Myoclonic-Astatic Epilepsy
Impaired social interactions, Lack of peer relationships, Hyperactivity, Microcephaly, Abnormal e... ORPHA:1942
3C Syndrome
Kyphosis, Ventriculomegaly, Dandy-Walker malformation, Scoliosis, Hydrocephalus, Hemivertebrae, A... ORPHA:7
Neonatal Adrenoleukodystrophy
Abnormality of neuronal migration ORPHA:44
Duplication Of The Pituitary Gland
Abnormal hypothalamus morphology, Thoracic scoliosis, Agenesis of corpus callosum, Supernumerary ... ORPHA:314621
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
High palate, Abnormal corpus callosum morphology, Long philtrum, Cavum septum pellucidum, Impaire... ORPHA:457279
16P13.11 Microdeletion Syndrome
Cleft upper lip, Agenesis of corpus callosum, Ventriculomegaly, Exaggerated cupid's bow, Microcep... ORPHA:261236
Isotretinoin Embryopathy-Like Syndrome
Cleft palate, Hydrocephalus OMIM:243440
Agnathia-Otocephaly Complex
Narrow mouth, Aglossia, Agenesis of corpus callosum, Microglossia, Polyhydramnios, Holoprosenceph... OMIM:202650
Mosaic Trisomy 1
Short upper lip, Thoracic scoliosis, Agenesis of corpus callosum, Thick lower lip vermilion, Poly... ORPHA:1692
Vici Syndrome
Cerebral cortical atrophy, Agenesis of corpus callosum, Gray matter heterotopia ORPHA:1493
6Q Terminal Deletion Syndrome
Colpocephaly, Periventricular heterotopia, Obesity, Gray matter heterotopia, Failure to thrive, A... ORPHA:75857
Slc35A2-Cdg
Cerebral atrophy, Hypoplastic hippocampus, Cerebral white matter atrophy, Microcephaly, Dandy-Wal... ORPHA:356961
Holoprosencephaly 3
Central diabetes insipidus, Bifid uvula, Solitary median maxillary central incisor, Ventriculomeg... OMIM:142945
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Cleft upper lip, Agenesis of corpus callosum, Ventriculomegaly, Macroglossia, Microcephaly, Scoli... OMIM:613150
Hyperphosphatasia With Mental Retardation Syndrome 6
Microcephaly, Hyperactivity, Aggressive behavior OMIM:616809
Fanconi Anemia, Complementation Group I
Colpocephaly, Agenesis of corpus callosum, Microcephaly, Fused cervical vertebrae, Absent septum ... OMIM:609053
Female Restricted Epilepsy With Intellectual Disability
Abnormal social behavior, Anxiety, Hyperactivity, Aggressive behavior, Impulsivity ORPHA:101039
Holzgreve Syndrome
Aplasia/Hypoplasia of the tongue, Aplasia/Hypoplasia of the corpus callosum, Abnormally ossified ... ORPHA:2167
Halperin-Birk Syndrome
Semilobar holoprosencephaly, High palate, Colpocephaly, Agenesis of corpus callosum, Ventriculome... OMIM:618651
Meckel Syndrome, Type 3
Occipital encephalocele, Dandy-Walker malformation, Cleft palate, Hydrocephalus OMIM:607361
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Dysplastic corpus callosum, Progressive microcephaly, Ventriculomegaly, Multifocal hyperintensity... ORPHA:488627
Microform Holoprosencephaly
Short philtrum, Solitary median maxillary central incisor, Agenesis of corpus callosum, Panhypopi... ORPHA:280200
Gomez-Lopez-Hernandez Syndrome
Cognitive impairment, Self-injurious behavior, Hyperactivity, Bipolar affective disorder, Depress... OMIM:601853
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies
Cerebral atrophy, Patent ductus arteriosus, Periventricular nodular heterotopia, Ventriculomegaly... OMIM:618659
Meckel Syndrome, Type 5
Occipital encephalocele, Anencephaly, Cleft upper lip, Cleft palate OMIM:611561
Cri-Du-Chat Syndrome
Small for gestational age, Anxiety, Hyperactivity, Conspicuously happy disposition, Aggressive be... OMIM:123450
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Abnormal cortical gyration, Lissencephaly, Macrogyria, Pachygyria, Polymicrogyria, Abnormality of... ORPHA:2211
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Large for gestational age, Abnormal corpus callosum morphology, Hyperactivity, Megalencephaly, Po... ORPHA:457485
Wars2-Related Combined Oxidative Phosphorylation Defect
Cerebral atrophy, High palate, Dilated fourth ventricle, Leukoencephalopathy, Ventriculomegaly, C... ORPHA:572798
Alkuraya-Kucinskas Syndrome
Aplasia/Hypoplasia of the corpus callosum, Gray matter heterotopia, Ventriculomegaly, Lissencepha... OMIM:617822
Neurodegeneration With Brain Iron Accumulation 2B
Cerebral atrophy, Neurofibrillary tangles, Hyperactivity, Mental deterioration, Emotional labilit... OMIM:610217
Mohr Syndrome
Accessory oral frenulum, High palate, Tongue nodules, Lobulated tongue, Agenesis of central incis... OMIM:252100
Familial Infantile Myoclonic Epilepsy
Thick cerebral cortex, Abnormal hippocampus morphology, Periventricular nodular heterotopia ORPHA:352582
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Hydrops fetalis, Intestinal malrotation, Tricuspid regurgitation, Platyspondyly, Hamartoma of ton... OMIM:263520
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Lewy bodies, Dilation of lateral ventricles, Cerebral cortical atrophy, Neurofibrillary tangles OMIM:607485
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity, Elevated circulating growth hormone concentration, Aggressive behavior ORPHA:85327
Orofaciodigital Syndrome Iv
Accessory oral frenulum, Cerebral atrophy, High palate, Tongue nodules, Lobulated tongue, Porence... OMIM:258860
Coffin-Lowry Syndrome
Kyphosis, Abnormal form of the vertebral bodies, Aplasia/Hypoplasia of the corpus callosum, Ventr... ORPHA:192
Usmani-Riazuddin Syndrome, Autosomal Dominant
Self-injurious behavior, Hyperactivity, Anxiety, Aggressive behavior, Depression OMIM:619467
Severe X-Linked Intellectual Disability, Gustavson Type
Microcephaly, Dilation of lateral ventricles, Dandy-Walker malformation, Dilated fourth ventricle ORPHA:3078
Kohlschutter-Tonz Syndrome-Like
Amelogenesis imperfecta, Delayed eruption of teeth, Drooling, Enamel hypoplasia, Carious teeth, W... OMIM:619229
Intellectual Developmental Disorder, X-Linked 107
Anxiety, Hyperactivity, Obesity, Aggressive behavior, Attention deficit hyperactivity disorder OMIM:301013
Lamb-Shaffer Syndrome
Microcephaly, Hyperactivity, Abnormal social behavior ORPHA:530983
Orofaciodigital Syndrome V
High palate, Bifid uvula, Agenesis of corpus callosum, Lobulated tongue, Hypodontia, Aganglionic ... OMIM:174300
2Q23.1 Microdeletion Syndrome
Microcephaly, Self-injurious behavior, Hyperactivity, Paroxysmal bursts of laughter ORPHA:228402
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Small for gestational age, Hyperactivity, Truncal obesity, Microcephaly, Failure to thrive, Atten... ORPHA:73272
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Cerebral atrophy, Gray matter heterotopia, Hypoplasia of the corpus callosum OMIM:618797
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Bifid uvula, Microcephaly, Spinal dysraphism, Mitral stenosis, Butterfly vertebrae, Aortic valve ... OMIM:617660
Miller-Dieker Lissencephaly Syndrome
Agyria, Cavum septum pellucidum, Gray matter heterotopia, Microcephaly, Lissencephaly, Midline br... OMIM:247200
16P12.1P12.3 Triplication Syndrome
Nail-biting, Anxiety, Hyperactivity, Failure to thrive, Decreased response to growth hormone stim... ORPHA:485405
Cerebrofacioarticular Syndrome
Dysplastic corpus callosum, Agenesis of corpus callosum, Self-injurious behavior, Gray matter het... ORPHA:314679
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Low frustration tolerance, Hyperactivity, Inappropriate laughter, Self-mutilation, Abnormal cereb... ORPHA:363686
Meckel Syndrome, Type 2
Anencephaly, Dandy-Walker malformation, Meningocele, Cleft palate, Encephalocele OMIM:603194
Myopathy With Extrapyramidal Signs
Perisylvian polymicrogyria, Hyperactivity, Hypoplastic anterior limbs of the internal capsule, En... OMIM:615673
Cog5-Cdg
High palate, Cerebral white matter atrophy, Microcephaly, Diffuse cerebral atrophy, Dilation of l... ORPHA:263487
Van Maldergem Syndrome 1
Periventricular nodular heterotopia, Gray matter heterotopia, Subcortical band heterotopia, Simpl... OMIM:601390
Orofaciodigital Syndrome I
Abnormal cortical gyration, Hypothalamic hamartoma, Hamartoma of tongue, Microcephaly, Hypertensi... OMIM:311200
Khan-Khan-Katsanis Syndrome
Colpocephaly, Tented upper lip vermilion, Microcephaly, Scoliosis, Tricuspid regurgitation, Trian... OMIM:618460
Pentalogy Of Cantrell
Non-midline cleft lip, Anencephaly, Scoliosis, Hydrocephalus, Oral cleft, Cleft palate, Encephalo... ORPHA:1335
Inverted Duplicated Chromosome 15 Syndrome
Microcephaly, Self-biting, Hyperactivity, Aggressive behavior ORPHA:3306
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Cerebral atrophy, Agenesis of corpus callosum, Periventricular heterotopia, Self-injurious behavi... ORPHA:468631
X-Linked Creatine Transporter Deficiency
Microcephaly, Hyperactivity, Self-mutilation, Cachexia ORPHA:52503
Linear Skin Defects With Multiple Congenital Anomalies 1
Colpocephaly, Agenesis of corpus callosum, Arrhythmia, Histiocytoid cardiomyopathy, Anal atresia,... OMIM:309801
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Dilation of lateral ventricles, Pulmonic stenosis, Hypoplasia of the corpus callosum OMIM:618914
47,Xyy Syndrome
Impaired social interactions, Hyperactivity, Increased circulating gonadotropin level, Impulsivit... ORPHA:8
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Impaired social interactions, Self-injurious behavior, Anxiety, Hyperactivity, Aggressive behavio... ORPHA:449291
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Hypoplasia of the corpus callosum, Happy demeanor, Hyperactivity, Obesity, Inappropriate laughter... ORPHA:98794
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Agenesis of corpus callosum, Basal ganglia cysts, Ventriculomegaly, Microcephaly, Intracerebral p... OMIM:608836
Congenital Disorder Of Glycosylation, Type Iim
Cerebral atrophy, High palate, Short philtrum, Fused teeth, Enamel hypoplasia, Open mouth, Exagge... OMIM:300896
Holoprosencephaly 9
Abnormal cortical gyration, Short philtrum, Dental malocclusion, Solitary median maxillary centra... OMIM:610829
Cerebrocostomandibular Syndrome
Cerebral calcification, Myelomeningocele, Kyphosis, Hydranencephaly, Porencephalic cyst, Microcep... ORPHA:1393
Succinic Semialdehyde Dehydrogenase Deficiency
Self-injurious behavior, Hyperactivity, Anxiety, Aggressive behavior OMIM:271980
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Hydrops fetalis, Anencephaly, Polyhydramnios, Hydrocephalus, Polymicrogyria, Cleft palate OMIM:616546
Periventricular Nodular Heterotopia 9
Periventricular nodular heterotopia, Gray matter heterotopia, Microcephaly, Hypoplasia of the cor... OMIM:618918
Intellectual Developmental Disorder, Autosomal Dominant 64
Microcephaly, Ventriculomegaly, Periventricular nodular heterotopia OMIM:619188
Genitourinary And/Or Brain Malformation Syndrome
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum, Long philtrum, Gray matter... OMIM:618820
Intellectual Disability-Strabismus Syndrome
Agenesis of corpus callosum, Hyperactivity, Aggressive behavior, Microcephaly, Decreased response... ORPHA:363528
Citrullinemia Type Ii
Cerebral edema, Memory impairment, Hyperactivity, Aggressive behavior, Irritability, Decreased bo... ORPHA:247585
Vici Syndrome
Agenesis of corpus callosum, Schizencephaly, Gray matter heterotopia, Microcephaly, Failure to th... OMIM:242840
White-Sutton Syndrome
Cerebral atrophy, Hypoplasia of the corpus callosum, Self-injurious behavior, Anxiety, Obesity, H... OMIM:616364
19P13.3 Microduplication Syndrome
Cerebral atrophy, Self-injurious behavior, Hyperactivity, Microcephaly, Irritability ORPHA:447980
Van Der Woude Syndrome
Abnormal salivary gland morphology, Cleft upper lip, Lower lip pit, Hypodontia, Lip pit, Cleft pa... ORPHA:888
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Small for gestational age, Posterior pituitary hypoplasia, Anxiety, Microcephaly, Failure to thri... ORPHA:464311
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Abnormality of neuronal migration ORPHA:2063
Prader-Willi Syndrome Due To Translocation
High palate, Bifid uvula, Anterior pituitary hypoplasia, Oligohydramnios, Alveolar ridge overgrow... ORPHA:177907
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities
Microcephaly, Hyperactivity OMIM:618089
Bohring-Opitz Syndrome
Agenesis of corpus callosum, Gray matter heterotopia, Microcephaly, Failure to thrive, Hypoplasia... OMIM:605039
Koolen-De Vries Syndrome
Small for gestational age, Anxiety, Hyperactivity, Conspicuously happy disposition, Gray matter h... OMIM:610443
Joubert Syndrome With Hepatic Defect
Aplasia/Hypoplasia of the corpus callosum, Scoliosis, Abnormality of neuronal migration, Hydrocep... ORPHA:1454
Bainbridge-Ropers Syndrome
High palate, Intestinal malrotation, Everted lower lip vermilion, Microcephaly, Polyhydramnios, S... OMIM:615485
Angelman Syndrome
Paroxysmal bursts of laughter, Hyperactivity, Obesity, Cerebral cortical atrophy, Secondary micro... OMIM:105830
Distal Monosomy 10Q
High palate, Cavum septum pellucidum, Anal atresia, Microcephaly, Lumbar hyperlordosis, Smooth ph... ORPHA:96148
Angelman Syndrome
Cerebral dysmyelination, Happy demeanor, Self-injurious behavior, Anxiety, Obesity, Hyperactivity... ORPHA:72
Culler-Jones Syndrome
Cleft upper lip, Anterior pituitary hypoplasia, Hypopituitarism, Ectopic posterior pituitary, Cle... OMIM:615849
Van Maldergem Syndrome 2
Periventricular nodular heterotopia, Gray matter heterotopia, Subcortical band heterotopia, Scoli... OMIM:615546
Orofaciodigital Syndrome Type 6
Aplasia/Hypoplasia of the corpus callosum, Hypothalamic hamartoma, Failure to thrive, Abnormality... ORPHA:2754
Rauch-Steindl Syndrome
Anxiety, Hyperactivity, Aggressive behavior, Microcephaly, Failure to thrive OMIM:619695
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Small pituitary gland, Long philtrum, Widely spaced teeth, Microdontia, Ventriculomegaly, Short l... OMIM:619479
Choreoacanthocytosis
Abnormal hippocampus morphology, Aggressive behavior, Apathy, Dilation of lateral ventricles, Sma... ORPHA:2388
Graves Disease, Susceptibility To, 1
Irritability, Hyperactivity, Weight loss OMIM:275000
Glutaric Acidemia I
Dilation of lateral ventricles OMIM:231670
Intellectual Developmental Disorder, X-Linked 98
Impaired social interactions, Self-biting, Anxiety, Hyperactivity, Aggressive behavior, Poor eye ... OMIM:300912
X-Linked Adrenoleukodystrophy
Cognitive impairment, Disinhibition, Dementia, Hyperactivity, Aggressive behavior, Inappropriate ... ORPHA:43
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Low frustration tolerance, Decreased body weight, Hyperactivity, Aggressive behavior, Microcephal... OMIM:300534
21Q22.11Q22.12 Microdeletion Syndrome
Agenesis of corpus callosum, Failure to thrive in infancy, Self-injurious behavior, Hyperactivity... ORPHA:261323
Wiedemann-Steiner Syndrome
Abnormal corpus callosum morphology, Low frustration tolerance, Psychomotor deterioration, Anxiet... ORPHA:319182
Adams-Oliver Syndrome 1
Cleft upper lip, Ventriculomegaly, Pulmonic stenosis, Microcephaly, Pulmonary arterial hypertensi... OMIM:100300
Cleft Palate With Or Without Ankyloglossia, X-Linked
Bifid uvula, Ankyloglossia, Cleft palate OMIM:303400
Meckel Syndrome, Type 6
Cleft upper lip, Occipital encephalocele, Anencephaly, Hydrocephalus, Cleft palate OMIM:612284
Chromosome 13Q33-Q34 Deletion Syndrome
Agenesis of corpus callosum, Small for gestational age, Anencephaly, Hyperactivity, Aggressive be... OMIM:619148
19P13.12 Microdeletion Syndrome
Self-injurious behavior, Hyperactivity, Obesity, Microcephaly, Hypoplasia of the corpus callosum ORPHA:254346
Neuromuscular Oculoauditory Syndrome
Periventricular heterotopia, Agenesis of corpus callosum OMIM:618733
Seckel Syndrome 1
Microcephaly, Large basal ganglia, Hyperactivity, Pachygyria OMIM:210600
Glass Syndrome
Microcephaly, Happy demeanor, Hyperactivity, Aggressive behavior OMIM:612313
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Abnormal cortical gyration, Memory impairment, Abnormal social behavior, Hypoplastic hippocampus,... ORPHA:314647
Man1B1-Cdg
Periventricular heterotopia ORPHA:397941
Thoracoabdominal Syndrome
Anencephaly, Cleft upper lip, Cleft palate, Hydrocephalus OMIM:313850
Weaver Syndrome
Kyphosis, Long philtrum, Scoliosis, Absent septum pellucidum, Dilation of lateral ventricles OMIM:277590
Pediatric-Onset Graves Disease
Mood swings, Hyperactivity, Microcephaly, Failure to thrive, Irritability ORPHA:525731
Mismatch Repair Cancer Syndrome 1
Agenesis of corpus callosum, Gray matter heterotopia OMIM:276300
Chromosome 10Q26 Deletion Syndrome
Microcephaly, Hyperactivity, Small for gestational age, Aggressive behavior OMIM:609625
Brooks-Wisniewski-Brown syndrome
Cerebral atrophy, Agenesis of corpus callosum, Small for gestational age, Hyperactivity, Microcep... OMIM:300612
Nijmegen Breakage Syndrome
Mental deterioration, Microcephaly, Cachexia, Abnormality of neuronal migration, Attention defici... ORPHA:647
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome
Colpocephaly, Abnormal palate morphology, Widely spaced teeth, Abnormality of canine, Hypoplasia ... ORPHA:477993
Peroxisome Biogenesis Disorder 1A (Zellweger)
Aplasia/Hypoplasia of the corpus callosum, Gray matter heterotopia, Failure to thrive, Hypoplasti... OMIM:214100
X-Linked Intellectual Disability, Cabezas Type
Hyperactivity, Obesity, Aggressive behavior, Microcephaly, Cachexia ORPHA:85293
X-Linked Cerebral Adrenoleukodystrophy
Memory impairment, Hyperactivity, Mental deterioration, Abnormal periventricular white matter mor... ORPHA:139396
Helsmoortel-Van Der Aa Syndrome
Obesity, Hyperactivity, Decreased response to growth hormone stimulation test OMIM:615873
Multiple Acyl-Coa Dehydrogenase Deficiency
Hyperlordosis, Gray matter heterotopia, Hepatic periportal necrosis ORPHA:26791
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Microcephaly, Vertebral segmentation defect, Abnormality of neuronal migration ORPHA:3186
Bilateral Perisylvian Polymicrogyria
Perisylvian predominant thick cortex pachygyria, Bilateral perisylvian polymicrogyria, Microcepha... ORPHA:98889
Orofaciodigital Syndrome Xiv
Occipital encephalocele, Periventricular heterotopia, Lobulated tongue, Supernumerary tooth, Bifi... OMIM:615948
Hydrolethalus Syndrome 1
Abnormal cortical gyration, Severe hydrocephalus, Agenesis of corpus callosum, Anencephaly, Gray ... OMIM:236680
Holoprosencephaly
Abnormal form of the vertebral bodies, Panhypopituitarism, Aplasia/Hypoplasia of the corpus callo... ORPHA:2162
Brain-Lung-Thyroid Syndrome
Agenesis of corpus callosum, Cavum septum pellucidum, Hyperactivity, Microcephaly, Failure to thr... ORPHA:209905
Ritscher-Schinzel Syndrome 3
Poorly ossified vertebrae, Periventricular nodular heterotopia OMIM:619135
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Dysplastic corpus callosum, Bifid uvula, Dilation of lateral ventricles, Hemivertebrae, Cleft pal... ORPHA:500150
White-Sutton Syndrome
Self-injurious behavior, Hyperactivity, Obesity, Aggressive behavior, Microcephaly, Cerebral cort... ORPHA:468678
Opitz-Kaveggia Syndrome
Partial agenesis of the corpus callosum, Gray matter heterotopia, Attention deficit hyperactivity... OMIM:305450
Early Infantile Epileptic Encephalopathy
Self-injurious behavior, Hyperactivity, Microcephaly, Failure to thrive, Pachygyria, Diffuse cere... ORPHA:1934
Tuberous Sclerosis Complex
Cortical tubers, Abnormal social behavior, Self-injurious behavior, Anxiety, Hyperactivity, Aggre... ORPHA:805
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Agenesis of corpus callosum, Self-injurious behavior, Anxiety, Hyperactivity, Microcephaly, Parti... OMIM:619512
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Gray matter heterotopia, Microcephaly, Scoliosis, Hypoplasia of the corpus callosum, Vertebral se... ORPHA:453499
Mucopolysaccharidosis, Type Iiib
Hyperactivity, Progressive neurologic deterioration, Aggressive behavior OMIM:252920
Mend Syndrome
Abnormal social behavior, Hyperactivity, Aggressive behavior, Failure to thrive, Hypoplasia of th... ORPHA:401973
Stankiewicz-Isidor Syndrome
Hyperactivity, Pineal cyst OMIM:617516
Osteopetrosis, Autosomal Recessive 7
Dilation of lateral ventricles, Hydrocephalus OMIM:612301
7Q11.23 Microduplication Syndrome
Impaired social interactions, Self-injurious behavior, Anxiety, Obesity, Hyperactivity, Aggressiv... ORPHA:96121
Arima Syndrome
Gray matter heterotopia, Dilated fourth ventricle OMIM:243910
Genitopatellar Syndrome
Colpocephaly, Agenesis of corpus callosum, Delayed eruption of teeth, Periventricular heterotopia... OMIM:606170
Neurodegeneration With Brain Iron Accumulation 1
Eye of the tiger anomaly of globus pallidus, Dementia, Hyperactivity, Mental deterioration, Depre... OMIM:234200
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Agenesis of corpus callosum, Hypoplasia of the frontal lobes, Gray matter heterotopia, Microcepha... OMIM:210710
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hypoplasia of the corpus callosum, Hyperactivity, Primary microcephaly, Irritability, Secondary m... ORPHA:447997
Coffin-Siris Syndrome
Agenesis of corpus callosum, Hyperactivity, Aggressive behavior, Microcephaly, Simplified gyral p... ORPHA:1465
Bone Marrow Failure Syndrome 3
Microcephaly, Failure to thrive, Hyperactivity OMIM:617052
Dyrk1A-Related Intellectual Disability Syndrome
Anterior pituitary hypoplasia, Small for gestational age, Anxiety, Hyperactivity, Primary microce... ORPHA:464306
Chromosome 1P36 Deletion Syndrome, Distal
Dilated cardiomyopathy, Hypoplasia of the corpus callosum, High palate, Bifid uvula, Agenesis of ... OMIM:607872
Pagod Syndrome
Microcephaly, Abnormality of neuronal migration ORPHA:991
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Hyperactivity, Agenesis of corpus callosum, Hypoplasia of the corpus callosum ORPHA:457284
Witteveen-Kolk Syndrome
Dysplastic corpus callosum, Small for gestational age, Hyperactivity, Obesity, Conspicuously happ... OMIM:613406
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Agenesis of corpus callosum, Gray matter heterotopia, Microcephaly, Scoliosis, Hypoplasia of the ... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Agenesis of corpus callosum, Gray matter heterotopia, Microcephaly, Scoliosis, Hypoplasia of the ... ORPHA:352665
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Impaired social interactions, Self-injurious behavior, Hyperactivity, Obesity, Panic attack, Aggr... ORPHA:353281
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
High palate, Abnormal corpus callosum morphology, Intestinal malrotation, Hypodontia, Carious tee... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
High palate, Abnormal corpus callosum morphology, Intestinal malrotation, Hypodontia, Carious tee... ORPHA:353277
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Large for gestational age, Hyperactivity, Failure to thrive, Hypoplasia of the corpus callosum, A... OMIM:607721
Smith-Lemli-Opitz Syndrome
Periventricular heterotopia, Hypoplasia of the frontal lobes, Hyperactivity, Aggressive behavior,... OMIM:270400
Maternal Phenylketonuria
Microcephaly, Hyperactivity, Hypoplasia of the corpus callosum ORPHA:2209
Biliary, Renal, Neurologic, And Skeletal Syndrome
Cardiac arrest, Portal hypertension, Anterior pituitary hypoplasia, Aortic regurgitation, Ascites... OMIM:619534
Monosomy 9Q22.3
Large for gestational age, Calcification of falx cerebri, Hyperactivity ORPHA:77301
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Abnormal corpus callosum morphology, Bifid uvula, Periventricular heterotopia, Abnormal hippocamp... ORPHA:261537
Monosomy 22Q13.3
Hair-pulling, Obesity, Hyperactivity, Agenesis of corpus callosum ORPHA:48652
Fontaine Progeroid Syndrome
Hydrocephalus, Patent ductus arteriosus, Periventricular heterotopia, Gray matter heterotopia, Pl... OMIM:612289
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Hypoplastic anterior commissure, Abnormal corpus callosum morphology, Bifid uvula, Periventricula... ORPHA:261552
Hyperthyroidism, Nonautoimmune
Hyperactivity, Small for gestational age OMIM:609152
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperactivity, Weight loss, Small for gestational age ORPHA:424
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Hippocampal atrophy, Hyperactivity, Aggressive behavior, Cerebral cortical atrophy, Attention def... OMIM:614756
Mowat-Wilson Syndrome
Impaired social interactions, Happy demeanor, Decreased body weight, Focal cortical dysplasia, Ag... ORPHA:2152
Proteus Syndrome
Scoliosis, Kyphosis, Abnormal form of the vertebral bodies, 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 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.

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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

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