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Gene: Enah MGI:108360

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
ENAH actin regulator
Synonyms:
Ndpp1,  Mena

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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 Enah 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.

No human diseases associated to this gene by orthology or annotation.

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Schizencephaly
Cerebral cortical atrophy, Schizencephaly, Agenesis of corpus callosum OMIM:269160
Mirror Movements 1
Agenesis of corpus callosum OMIM:157600
Cortical Dysplasia, Complex, With Other Brain Malformations 1
Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Micr... OMIM:614039
Cortical Dysplasia, Complex, With Other Brain Malformations 7
Cerebellar vermis hypoplasia, Polymicrogyria, Hypoplasia of the brainstem, Hypoplasia of the corp... OMIM:610031
Chudley-Mccullough Syndrome
Polymicrogyria, Hypoplasia of the corpus callosum, Dysplastic corpus callosum, Cerebellar hypopla... OMIM:604213
Autosomal Recessive Spastic Paraplegia Type 67
Cerebral cortical atrophy, Difficulty walking, Agenesis of corpus callosum, Spastic gait, Aplasia... ORPHA:401820
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hydrocephalus, Agenesis of corpus callosum OMIM:166990
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Cerebellar vermis hypoplasia, Dysgenesis of the basal ganglia, Hypoplasia of the brainstem, Focal... OMIM:615771
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Cerebellar hypoplasia, Polymicrogyria, Primary microcephaly, Agenesis of corpus callosum ORPHA:171703
X-Linked Neurodegenerative Syndrome, Bertini Type
Ataxia, Agenesis of corpus callosum ORPHA:85334
Sub-Cortical Nodular Heterotopia
Abnormal cerebral cortex morphology, Polymicrogyria, Abnormal basal ganglia morphology, Hypoplasi... ORPHA:101029
Lissencephaly 3
Cerebellar vermis hypoplasia, Polymicrogyria, Hypoplasia of the brainstem, Hypoplasia of the corp... OMIM:611603
Masa Syndrome
Gait disturbance, Agenesis of corpus callosum ORPHA:2466
Lissencephaly, X-Linked, 1
Agenesis of corpus callosum, Ataxia, Pachygyria, Agyria, Lissencephaly OMIM:300067
Lissencephaly 4
Agenesis of corpus callosum, Cerebellar hypoplasia, Colpocephaly, Primary microcephaly, Lissencep... OMIM:614019
Corpus Callosum, Agenesis Of
Microcephaly, Agenesis of corpus callosum OMIM:217990
Microcephaly 5, Primary, Autosomal Recessive
Small cerebral cortex, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Cerebellar... OMIM:608716
Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies
Cerebral atrophy, Hypoplasia of the brainstem, Inability to walk, Absent septum pellucidum, Hypop... OMIM:618492
Isolated Corpus Callosum Agenesis
Agenesis of corpus callosum ORPHA:200
Ventriculomegaly And Arthrogryposis
Cerebellar hypoplasia, Agenesis of corpus callosum OMIM:619501
Autosomal Recessive Spastic Paraplegia Type 69
Cerebral cortical atrophy, Aplasia/Hypoplasia of the cerebellar vermis, Agenesis of corpus callosum ORPHA:401830
Gaba-Transaminase Deficiency
Cerebellar hypoplasia, Lethargy, Agenesis of corpus callosum OMIM:613163
Polymicrogyria With Optic Nerve Hypoplasia
Polymicrogyria, Hypoplasia of the brainstem, Agenesis of corpus callosum, Dysplastic corpus callo... ORPHA:250972
Myasthenic Syndrome, Congenital, 23, Presynaptic
Agenesis of corpus callosum OMIM:618197
Masa Syndrome
Microcephaly, Shuffling gait, Hydrocephalus, Agenesis of corpus callosum OMIM:303350
Spinocerebellar Ataxia 23
Limb ataxia, Gait ataxia, Dysmetria, Agenesis of corpus callosum OMIM:610245
Pontocerebellar Hypoplasia, Type 15
Hypoplasia of the brainstem, Agenesis of corpus callosum, Cerebellar hypoplasia, Hydrocephalus, P... OMIM:619302
Epilepsy, Progressive Myoclonic, 9
Simplified gyral pattern, Gait ataxia, Agenesis of corpus callosum OMIM:616540
Fetal Akinesia Syndrome, X-Linked
Agenesis of corpus callosum OMIM:300073
Polymicrogyria Due To Tubb2B Mutation
Abnormal corpus callosum morphology, Hypoplasia of the pons, Lateral ventricle dilatation, Dysgen... ORPHA:300573
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities
Leukoencephalopathy, Reduced cerebral white matter volume, Secondary microcephaly, Inability to w... OMIM:620317
Mismatch Repair Cancer Syndrome 4
Agenesis of corpus callosum OMIM:619101
Microcephaly 17, Primary, Autosomal Recessive
Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Cere... OMIM:617090
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Partial agenesis of the corpus callosum, Cerebral atrophy, Agenesis of corpus callosum ORPHA:85179
Pontocerebellar Hypoplasia, Type 14
Hypoplasia of the pons, Hypoplasia of the brainstem, Agenesis of corpus callosum, Cerebellar hypo... OMIM:619301
Craniotelencephalic Dysplasia
Absent septum pellucidum, Agenesis of corpus callosum, Cerebellar hypoplasia, Frontal encephaloce... OMIM:218670
Craniotelencephalic Dysplasia
Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly, Hydrocephalus, Frontal encephal... ORPHA:1528
Congenital Disorder Of Glycosylation, Type Iiy
Cerebral cortical atrophy, Thin corpus callosum, Microcephaly, Agenesis of corpus callosum OMIM:620200
Dihydropyrimidine Dehydrogenase Deficiency
Microcephaly, Lethargy, Cerebral atrophy, Agenesis of corpus callosum OMIM:274270
Macrocephaly, Acquired, With Impaired Intellectual Development
Probst bundles, Thin corpus callosum, Agenesis of corpus callosum OMIM:618286
Developmental And Epileptic Encephalopathy 88
Progressive microcephaly, Partial agenesis of the corpus callosum, Inferior cerebellar vermis hyp... OMIM:618959
Cerebrooculofacioskeletal Syndrome 3
Cerebellar hypoplasia, Microcephaly, Agenesis of corpus callosum OMIM:616570
Congenital Disorder Of Glycosylation With Defective Fucosylation 2
Inability to walk, Periventricular leukomalacia, Agenesis of corpus callosum OMIM:618324
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Abnormal corpus callosum morphology, Cerebral atrophy, Periventricular cysts, Abnormal basal gang... ORPHA:255182
Combined Oxidative Phosphorylation Deficiency 50
Microcephaly, Partial agenesis of the corpus callosum OMIM:619025
Band Heterotopia
Lateral ventricle dilatation, Polymicrogyria, Agenesis of corpus callosum, Hydrocephalus, Subcort... OMIM:600348
Glycine Encephalopathy 1
Lethargy, Agenesis of corpus callosum OMIM:605899
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hypoplasia of the pons, Agenesis of corpus callosum, Hydrocephalus, Unsteady gait, Abnormality of... OMIM:617542
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency
Cerebellar vermis hypoplasia, Gait ataxia, Dysmetria, Agenesis of corpus callosum, Truncal ataxia... ORPHA:453521
Corpus Callosum, Partial Agenesis Of, X-Linked
Inferior cerebellar vermis hypoplasia, Hypoplasia of the corpus callosum, Cerebellar hypoplasia, ... OMIM:304100
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Lissencephaly, Hypoplasia of the corpus callosum, Agenesis of corpus callosum OMIM:619466
Lissencephaly Due To Tuba1A Mutation
Cerebellar vermis hypoplasia, Optic nerve hypoplasia, Dysgenesis of the basal ganglia, Polymicrog... ORPHA:171680
Pyruvate Dehydrogenase E1-Beta Deficiency
Agenesis of corpus callosum OMIM:614111
Hydrocephalus, Congenital, X-Linked
Corticospinal tract hypoplasia, Absent septum pellucidum, Agenesis of corpus callosum, Hydrocepha... OMIM:307000
Microcephaly 16, Primary, Autosomal Recessive
Simplified gyral pattern, Primary microcephaly, Agenesis of corpus callosum OMIM:616681
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Cerebral atrophy, Hypoplasia of the corpus callosum, Agenesis of corpus callosum ORPHA:166024
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome
Agenesis of corpus callosum ORPHA:459074
Pyruvate Dehydrogenase E1-Beta Deficiency
Corticospinal tract hypoplasia, Hypoplasia of the brainstem, Periventricular cysts, Periventricul... ORPHA:255138
Familial Congenital Mirror Movements
Abnormal corticospinal tract morphology, Agenesis of corpus callosum ORPHA:238722
Usmani-Riazuddin Syndrome, Autosomal Recessive
Agenesis of corpus callosum OMIM:619548
Pontocerebellar Hypoplasia, Type 11
Broad-based gait, Hypoplasia of the pons, Difficulty walking, Inability to walk, Limb ataxia, Hyp... OMIM:617695
3Q13 Microdeletion Syndrome
Agenesis of corpus callosum ORPHA:1621
Spastic Paraplegia 11, Autosomal Recessive
Cerebral cortical atrophy, Tip-toe gait, Abnormal periventricular white matter morphology, Hypopl... OMIM:604360
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum
Microcephaly, Frontal cortical atrophy, Parietal cortical atrophy, Agenesis of corpus callosum OMIM:618766
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Hypoplasia of the pons, Hypoplasia of the brainstem, Type II lissencephaly, Agenesis of corpus ca... OMIM:613153
Autosomal Recessive Primary Microcephaly
Pachygyria, Microcephaly, Hypoplasia of the frontal lobes, Agenesis of corpus callosum ORPHA:2512
Holoprosencephaly 11
Microcephaly, Holoprosencephaly, Agenesis of corpus callosum OMIM:614226
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Hypoplasia of the pons, Cerebral atrophy, Cerebellar hypoplasia, Microcephaly, Partial agenesis o... OMIM:616171
Foxg1 Syndrome
Abnormal corpus callosum morphology, Difficulty walking, Inability to walk, Hypoplasia of the cor... ORPHA:561854
Microcephaly 10, Primary, Autosomal Recessive
Reduced cerebral white matter volume, Cerebral atrophy, Agenesis of corpus callosum, Cerebellar h... OMIM:615095
Glutathionuria
Dysdiadochokinesis, Agenesis of corpus callosum OMIM:231950
Mitochondrial Complex I Deficiency, Nuclear Type 16
Caudate atrophy, Choreoathetosis, Agenesis of corpus callosum OMIM:618238
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Absent septum pellucidum, Agenesis of corpus callosum, Hydrocephalus, Aqueductal stenosis, Holopr... ORPHA:2182
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Dysmetria, Agenesis of corpus callosum, Lethargy, Ataxia, Truncal ataxia OMIM:250620
Corpus Callosum Agenesis-Abnormal Genitalia Syndrome
Cerebral cortical atrophy, Microcephaly, Agenesis of corpus callosum ORPHA:2508
Microhydranencephaly
Hydranencephaly, Hypoplasia of the brainstem, Agenesis of corpus callosum, Cerebellar hypoplasia,... OMIM:605013
Hydrolethalus Syndrome 2
Anencephaly, Hydrocephalus, Agenesis of corpus callosum OMIM:614120
Combined Oxidative Phosphorylation Deficiency 2
Lethargy, Agenesis of corpus callosum OMIM:610498
Pyruvate Dehydrogenase E1-Alpha Deficiency
Basal ganglia necrosis, Lateral ventricle dilatation, Cerebral atrophy, Polymicrogyria, Inability... ORPHA:79243
Pyruvate Dehydrogenase E1-Alpha Deficiency
Cerebral atrophy, Episodic ataxia, Basal ganglia cysts, Agenesis of corpus callosum, Microcephaly... OMIM:312170
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Hypoplasia of the pons, Lateral ventricle dilatation, Agenesis of corpus callosum, Microcephaly, ... OMIM:618736
Warburg Micro Syndrome 1
Cerebellar vermis hypoplasia, Cerebral atrophy, Hypoplasia of the corpus callosum, Agenesis of co... OMIM:600118
Microphthalmia, Syndromic 11
Agenesis of pineal gland, Agenesis of corpus callosum OMIM:614402
Fibrosis Of Extraocular Muscles, Congenital, 3A, With Or Without Extraocular Involvement
Hypoplasia of the corpus callosum, Hypoplastic anterior commissure, Dysgenesis of the basal gangl... OMIM:600638
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Microcephaly, Partial agenesis of the corpus callosum, Unsteady gait, Ataxia OMIM:245349
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia
Cerebellar vermis hypoplasia, Aplasia/Hypoplasia of the corpus callosum, Cerebellar hypoplasia, P... OMIM:616819
Microcephaly 3, Primary, Autosomal Recessive
Small cerebral cortex, Microcephaly, Primary microcephaly, Partial agenesis of the corpus callosu... OMIM:604804
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Hydranencephaly, Polymicrogyria, Hypoplasia of the brainstem, Akinesia, Agenesis of corpus callos... OMIM:225790
Oculocerebrocutaneous Syndrome
Dandy-Walker malformation, Orbital encephalocele, Hypoplasia of the corpus callosum, Agenesis of ... OMIM:164180
Delpire-Mcneill Syndrome
Cortical dysplasia, Agenesis of corpus callosum OMIM:619083
Craniosynostosis 3
Partial agenesis of the corpus callosum OMIM:615314
Orofaciodigital Syndrome Xv
Cerebellar vermis hypoplasia, Agenesis of corpus callosum OMIM:617127
Lissencephaly 7 With Cerebellar Hypoplasia
Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly, Agyria, Lissencephaly OMIM:616342
Severe Intellectual Disability-Corpus Callosum Agenesis-Facial Dysmorphism-Cerebellar Ataxia Syndrome
Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Microcephaly, Primary microcephaly, No... ORPHA:466688
Chiari Malformation Type Ii
Cervical myelopathy, Myelomeningocele, Agenesis of corpus callosum, Hydrocephalus, Spina bifida, ... OMIM:207950
Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus
Inability to walk, Partial agenesis of the corpus callosum, Thin corpus callosum, Choreoathetosis OMIM:619653
Subependymal Nodular Heterotopia
Focal cortical dysplasia, Occipital encephalocele, Polymicrogyria, Myelomeningocele, Meningocele,... ORPHA:101030
Lissencephaly 6 With Microcephaly
Polymicrogyria, Hypoplasia of the corpus callosum, Microcephaly, Microlissencephaly, Pachygyria, ... OMIM:616212
Congenital Neuronal Ceroid Lipofuscinosis
Cerebral hypoplasia, Neuronal loss in the cerebral cortex, Agenesis of corpus callosum, Cerebella... ORPHA:168486
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Hydrocephalus, Hypoplasia of the corpus callosum, Agenesis of corpus callosum OMIM:618577
Coach Syndrome 2
Cerebellar vermis hypoplasia, Hydrocephalus, Agenesis of corpus callosum OMIM:619111
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities
Microcephaly, Abnormal globus pallidus morphology, Hypoplasia of the corpus callosum, Agenesis of... OMIM:618603
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus, Agenesis of corpus callosum ORPHA:380
Houge-Janssens Syndrome 2
Inability to walk, Gait ataxia, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, M... OMIM:616362
Grubben-De Cock-Borghgraef Syndrome
Partial agenesis of the corpus callosum ORPHA:2101
Septooptic Dysplasia
Optic nerve hypoplasia, Absent septum pellucidum, Agenesis of corpus callosum OMIM:182230
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Polymicrogyria, Agenesis of corpus callosum, Dysplastic corpus callosum, Microcephaly, Lissenceph... OMIM:614833
Imagawa-Matsumoto Syndrome
Polymicrogyria, Agenesis of corpus callosum OMIM:618786
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Microcephaly, Agenesis of corpus callosum OMIM:615286
Neurodevelopmental Disorder With Motor And Language Delay, Ocular Defects, And Brain Abnormalities
Leukoencephalopathy, Cerebral atrophy, Agenesis of corpus callosum, Cerebellar hypoplasia, Microc... OMIM:620428
Microcephaly, Amish Type
Cerebellar hypoplasia, Cerebellar vermis hypoplasia, Partial agenesis of the corpus callosum, Pri... OMIM:607196
Corpus Callosum Agenesis-Neuronopathy Syndrome
Microcephaly, Aqueductal stenosis, Agenesis of corpus callosum ORPHA:1496
Cortical Dysplasia, Complex, With Other Brain Malformations 12
Dysgenesis of the basal ganglia, Agenesis of corpus callosum, Cerebellar hypoplasia, Pachygyria, ... OMIM:620316
Lissencephaly Syndrome, Norman-Roberts Type
Cerebral calcification, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Microliss... ORPHA:89844
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Hypoplasia of the brainstem, Type II lissencephaly, Agenesis of corpus callosum, Cerebellar hypop... OMIM:615249
Dworschak-Punetha Neurodevelopmental Syndrome
Dysplastic corpus callosum, Microcephaly, Colpocephaly, Agenesis of corpus callosum OMIM:619955
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Microcephaly, Partial agenesis of the corpus callosum, Thin corpus callosum, Lateral ventricle di... OMIM:619517
Linear Skin Defects With Multiple Congenital Anomalies 2
Microcephaly, Hypoplasia of the corpus callosum, Agenesis of corpus callosum OMIM:300887
Cortical Dysplasia, Complex, With Other Brain Malformations 11
Reduced cerebral white matter volume, Cerebral atrophy, Polymicrogyria, Hypoplasia of the corpus ... OMIM:620156
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies
Microcephaly, Agenesis of corpus callosum OMIM:619989
Craniosynostosis 6
Lateral ventricle dilatation, Agenesis of corpus callosum, Microcephaly, Spina bifida occulta, Da... OMIM:616602
Baraitser-Winter Syndrome 2
Secondary microcephaly, Pachygyria, Lissencephaly, Agenesis of corpus callosum OMIM:614583
Chromosome 3Q13.31 Deletion Syndrome
Alobar holoprosencephaly, Agenesis of corpus callosum OMIM:615433
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome
Cerebral hypoplasia, Hypoplasia of the brainstem, Small basal ganglia, Abnormal basal ganglia mor... ORPHA:86822
Microcephaly 20, Primary, Autosomal Recessive
Small cerebral cortex, Optic nerve hypoplasia, Hypoplasia of the corpus callosum, Agenesis of cor... OMIM:617914
Joubert Syndrome 30
Polymicrogyria, Dandy-Walker malformation, Agenesis of corpus callosum OMIM:617622
Joubert Syndrome 18
Agenesis of cerebellar vermis, Occipital encephalocele, Agenesis of corpus callosum OMIM:614815
Congenital Muscular Dystrophy With Cerebellar Involvement
Diffuse white matter abnormalities, Occipital encephalocele, Hypoplasia of the pons, Polymicrogyr... ORPHA:370959
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome
Cerebral cortical atrophy, Hypoplasia of the optic tract, Hypoplasia of the pons, Secondary micro... ORPHA:500144
Maternal Uniparental Disomy Of Chromosome X
Microcephaly, Agenesis of corpus callosum ORPHA:261519
Craniofacial Dyssynostosis With Short Stature
Hydrocephalus, Hypoplasia of the corpus callosum, Agenesis of corpus callosum OMIM:218350
Frontonasal Dysplasia 1
Cranium bifidum occultum, Anterior basal encephalocele, Pericallosal lipoma, Agenesis of corpus c... OMIM:136760
6Q25 Microdeletion Syndrome
Microcephaly, Agenesis of corpus callosum ORPHA:251056
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Cerebellar vermis hypoplasia, Hypoplasia of the olfactory bulb, Optic nerve hypoplasia, Lateral v... ORPHA:300570
Even-Plus Syndrome
Dysplastic corpus callosum, Agenesis of corpus callosum OMIM:616854
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Global brain atrophy, Hypoplasia of the brainstem, Difficulty walking, Inability to walk, Hypopla... ORPHA:481152
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Lissencephaly, Microcephaly, Hypoplasia of the corpus callosum, Agenesis of corpus callosum OMIM:618142
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity
Cerebral cortical atrophy, Hypoplasia of the pons, Agenesis of corpus callosum, Cerebellar hypopl... OMIM:617669
Lissencephaly, X-Linked, 2
Pachygyria, Lissencephaly, Agenesis of corpus callosum OMIM:300215
Microcephaly, Growth Deficiency, Seizures, And Brain Malformations
Microcephaly, Partial agenesis of the corpus callosum OMIM:618346
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Inability to walk, Diffuse white matter abnormalities, Agenesis of corpus callosum OMIM:218000
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Agenesis of corpus callosum ORPHA:93267
Greig Cephalopolysyndactyly Syndrome
Cerebellar hypoplasia, Hydrocephalus, Hypoplasia of the corpus callosum, Agenesis of corpus callosum OMIM:175700
Intellectual Developmental Disorder, Autosomal Dominant 65
Ataxia, Noncommunicating hydrocephalus, Agenesis of corpus callosum OMIM:619320
Joubert Syndrome With Renal Defect
Cerebellar vermis hypoplasia, Polymicrogyria, Encephalocele, Agenesis of corpus callosum, Gait di... ORPHA:220497
Fg Syndrome 3
Agenesis of corpus callosum OMIM:300406
Al-Gazali-Bakalinova Syndrome
Hypoplasia of the corpus callosum, Agenesis of corpus callosum OMIM:607131
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome
Frontal encephalocele, Agenesis of corpus callosum ORPHA:521308
Amish Lethal Microcephaly
Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Microcephaly, Spina bifida, Lissencephaly ORPHA:99742
Cerebrooculofacioskeletal Syndrome 1
Basal ganglia calcification, Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly, Di... OMIM:214150
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Leukoencephalopathy, Lateral ventricle dilatation, Cerebral atrophy, Agenesis of corpus callosum,... OMIM:619244
Ring Chromosome 22 Syndrome
Microcephaly, Gait ataxia, Absent septum pellucidum, Agenesis of corpus callosum ORPHA:1446
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Cerebellar vermis hypoplasia, Partial agenesis of the corpus callosum, Cavum septum pellucidum OMIM:619074
Intellectual Developmental Disorder, Autosomal Recessive 65
Partial agenesis of the corpus callosum, Gait ataxia, Hypoplasia of the corpus callosum, Unsteady... OMIM:618109
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Difficulty walking, Cerebral calcification, Agenesis of corpus callosum, Cerebellar hypoplasia, H... OMIM:618476
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Hydrocephalus, Agenesis of corpus callosum OMIM:109120
Meckel Syndrome 12
Cerebral hypoplasia, Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly, Agenesis o... OMIM:616258
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Polymicrogyria, Type II lissencephaly, Hypoplasia of the brainstem, Encephalocele, Agenesis of co... OMIM:253800
Joubert Syndrome With Ocular Defect
Cerebellar vermis hypoplasia, Polymicrogyria, Encephalocele, Agenesis of corpus callosum, Gait di... ORPHA:220493
Combined Oxidative Phosphorylation Deficiency 12
Leukoencephalopathy, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Dysplastic c... OMIM:614924
X-Linked Lissencephaly With Abnormal Genitalia
Pachygyria, Microcephaly, Agenesis of corpus callosum ORPHA:452
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Holoprosencephaly, Aplasia/Hypoplasia of the cerebellum, Agenesis of corpus callosum ORPHA:990
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Agenesis of corpus callosum, Microcephaly, Colpocephaly, Hydrocephalus, Communicating hydrocephal... OMIM:615219
Birk-Landau-Perez Syndrome
Difficulty walking, Limb ataxia, Agenesis of corpus callosum, Microcephaly, Pachygyria, Choreoath... OMIM:617595
4Q21 Microdeletion Syndrome
Cerebellar hypoplasia, Agenesis of corpus callosum ORPHA:238750
Hydrolethalus
Hydrocephalus, Anencephaly, Absent septum pellucidum, Agenesis of corpus callosum ORPHA:2189
Encephalocraniocutaneous Lipomatosis
Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Cerebellar hypoplasia, Hydrocepha... OMIM:613001
Agnathia-Otocephaly Complex
Holoprosencephaly, Agenesis of corpus callosum OMIM:202650
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Tip-toe gait, Cerebral atrophy, Lateral ventricle dilatation, Spastic gait, Partial agenesis of t... OMIM:617296
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Agenesis of cerebellar vermis, Encephalocele, Agenesis of corpus callosum ORPHA:228390
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Polymicrogyria, Type II lissencephaly, Hypoplasia of the brainstem, Encephalocele, Hypoplasia of ... OMIM:614643
Walker-Warburg Syndrome
Abnormal cortical gyration, Polymicrogyria, Absent septum pellucidum, Agenesis of corpus callosum... ORPHA:899
Combined Oxidative Phosphorylation Deficiency 24
Microcephaly, Hypoplasia of the corpus callosum, Agenesis of corpus callosum OMIM:616239
Developmental And Epileptic Encephalopathy 31B
Reduced cerebral white matter volume, Secondary microcephaly, Agenesis of corpus callosum, Colpoc... OMIM:620352
Temtamy Syndrome
Thick corpus callosum, Agenesis of corpus callosum OMIM:218340
Ritscher-Schinzel Syndrome 4
Agenesis of corpus callosum, Cerebellar hypoplasia, Ataxia, Athetosis, Dandy-Walker malformation OMIM:619435
Weiss-Kruszka Syndrome
Colpocephaly, Hypoplasia of the corpus callosum, Agenesis of corpus callosum OMIM:618619
Microcephaly 13, Primary, Autosomal Recessive
Cerebellar hypoplasia, Microcephaly, Primary microcephaly, Partial agenesis of the corpus callosu... OMIM:616051
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Holoprosencephaly, Hydrocephalus, Agenesis of corpus callosum ORPHA:77298
Baraitser-Winter Syndrome 1
Pachygyria, Microcephaly, Lissencephaly, Agenesis of corpus callosum OMIM:243310
Braddock-Carey Syndrome 1
Microcephaly, Agenesis of corpus callosum OMIM:619980
Immunodeficiency 49
Eosinophilia, Reduced cerebral white matter volume, Agenesis of corpus callosum OMIM:617237
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Hypoplasia of the brainstem, Type II lissencephaly, Encephalocele, Agenesis of corpus callosum, C... OMIM:613150
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Secondary microcephaly, Cerebellar vermis hypoplasia, Hypoplasia of the corpus callosum, Agenesis... OMIM:620073
Vici Syndrome
Cerebellar hypoplasia, Cerebral cortical atrophy, Hypoplasia of the pons, Agenesis of corpus call... ORPHA:1493
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia
Agenesis of corpus callosum OMIM:147950
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Cerebellar vermis hypoplasia, Hydrocephalus, Dandy-Walker malformation, Agenesis of corpus callosum ORPHA:459061
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1
Cerebellar vermis hypoplasia, Cerebral cortical atrophy, Agenesis of corpus callosum, Microcephal... OMIM:619720
1Q44 Microdeletion Syndrome
Microcephaly, Hydrocephalus, Agenesis of corpus callosum ORPHA:238769
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum
Partial agenesis of the corpus callosum, Agenesis of corpus callosum OMIM:620250
Brain Malformations With Or Without Urinary Tract Defects
Hypoplasia of the corpus callosum, Agenesis of corpus callosum OMIM:613735
Fanconi Anemia, Complementation Group I
Absent septum pellucidum, Agenesis of corpus callosum, Microcephaly, Colpocephaly, Optic nerve hy... OMIM:609053
Radio-Tartaglia Syndrome
Ataxia, Microcephaly, Gait imbalance, Agenesis of corpus callosum OMIM:619312
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Small cerebral cortex, Periventricular leukomalacia, Hypoplasia of the corpus callosum, Agenesis ... OMIM:617360
Coffin-Siris Syndrome 11
Agenesis of corpus callosum OMIM:618779
Microphthalmia With Brain And Digit Anomalies
Microcephaly, Inferior cerebellar vermis hypoplasia, Agenesis of corpus callosum ORPHA:139471
Corpus Callosum, Agenesis Of, With Abnormal Genitalia
Microcephaly, Agenesis of corpus callosum OMIM:300004
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Cerebellar vermis hypoplasia, Cerebral atrophy, Hypoplasia of the corpus callosum, Agenesis of co... OMIM:615802
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Gait disturbance, Hydrocephalus, Aplasia/Hypoplasia of the cerebellum, Agenesis of corpus callosum ORPHA:1812
Halperin-Birk Syndrome
Inability to walk, Colpocephaly, Semilobar holoprosencephaly, Agenesis of corpus callosum OMIM:618651
Intellectual Disability-Strabismus Syndrome
Microcephaly, Gait disturbance, Hypoplasia of the corpus callosum, Agenesis of corpus callosum ORPHA:363528
Cerebrofacioarticular Syndrome
Cerebellar vermis hypoplasia, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Dys... ORPHA:314679
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Secondary microcephaly, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Colpoceph... OMIM:620113
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Global brain atrophy, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Cerebellar ... OMIM:301056
Cutis Laxa, Autosomal Recessive, Type Iib
Microcephaly, Hydrocephalus, Agenesis of corpus callosum OMIM:612940
Marden-Walker Syndrome
Inferior cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Agenesis of corpus callosum, ... OMIM:248700
Foxg1 Syndrome Due To 14Q12 Microdeletion
Microcephaly, Agenesis of corpus callosum ORPHA:261144
Septo-Optic Dysplasia Spectrum
Absent septum pellucidum, Agenesis of corpus callosum, Aplasia/Hypoplasia of the cerebellum, Sept... ORPHA:3157
Chromosome 5P13 Duplication Syndrome
Agenesis of corpus callosum OMIM:613174
Curry-Jones Syndrome
Agenesis of corpus callosum ORPHA:1553
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Cerebral hypoplasia, Optic nerve hypoplasia, Hypoplasia of the pons, Cerebral atrophy, Polymicrog... ORPHA:468631
Carnitine Palmitoyltransferase Ii Deficiency
Cerebellar vermis hypoplasia, Polymicrogyria, Cerebral calcification, Abnormal basal ganglia morp... ORPHA:157
Acromelic Frontonasal Dysplasia
Meningocele, Hypoplasia of the olfactory bulb, Encephalocele, Agenesis of corpus callosum ORPHA:1827
Chromosome 6Pter-P24 Deletion Syndrome
Hydrocephalus, Dandy-Walker malformation, Agenesis of corpus callosum OMIM:612582
Chromosome 6Q24-Q25 Deletion Syndrome
Probst bundles, Hydrocephalus, Lateral ventricle dilatation, Agenesis of corpus callosum OMIM:612863
Basel-Vanagaite-Smirin-Yosef Syndrome
Cerebral atrophy, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Microcephaly, C... OMIM:616449
Emanuel Syndrome
Cerebral atrophy, Agenesis of corpus callosum, Microcephaly, Abnormal cerebral white matter morph... ORPHA:96170
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Occipital encephalocele, Hypoplasia of the brainstem, Type II lissencephaly, Communicating hydroc... OMIM:615287
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Occipital encephalocele, Polymicrogyria, Type II lissencephaly, Hypoplasia of the brainstem, Hypo... OMIM:236670
Isolated Exencephaly
Holoprosencephaly, Aplasia/Hypoplasia of the cerebellum, Agenesis of corpus callosum ORPHA:563612
Trisomy 1Q
Cerebellar hypoplasia, Hydrocephalus, Agenesis of corpus callosum ORPHA:261344
Donnai-Barrow Syndrome
Partial agenesis of the corpus callosum, Aplasia/Hypoplasia of the corpus callosum, Agenesis of c... OMIM:222448
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Dysplastic corpus callosum, Microcephaly, Partial agenesis of the corpus callosum, Focal polymicr... OMIM:619103
Nizon-Isidor Syndrome
Hypoplasia of the corpus callosum, Agenesis of corpus callosum OMIM:618872
Kleefstra Syndrome Due To 9Q34 Microdeletion
Cerebral cortical atrophy, Absent septum pellucidum, Agenesis of corpus callosum, Microcephaly, C... ORPHA:96147
Pseudotrisomy 13 Syndrome
Polymicrogyria, Encephalocele, Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly, ... OMIM:264480
Desmosterolosis
Abnormal cortical gyration, Polymicrogyria, Absent septum pellucidum, Agenesis of corpus callosum... ORPHA:35107
Intellectual Developmental Disorder, Autosomal Dominant 22
Microcephaly, Agenesis of corpus callosum OMIM:612337
Basel-Vanagaite-Smirin-Yosef Syndrome
Lateral ventricle dilatation, Cerebral atrophy, Difficulty walking, Inability to walk, Hypoplasia... ORPHA:464738
Curry-Jones Syndrome
Polymicrogyria, Hemimegalencephaly, Agenesis of corpus callosum, Lipomyelomeningocele, Occipital ... OMIM:601707
Tetraamelia-Multiple Malformations Syndrome
Septo-optic dysplasia, Hydrocephalus, Agenesis of corpus callosum ORPHA:3301
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Polymicrogyria, Intracerebral periventricular calcifications, Basal ganglia cysts, Agenesis of co... OMIM:608836
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Cerebellar vermis hypoplasia, Polymicrogyria, Intracerebral periventricular calcifications, Cereb... ORPHA:228308
Congenital Disorder Of Deglycosylation 2
Cerebellar vermis hypoplasia, Partial agenesis of the corpus callosum, Thin corpus callosum, Poly... OMIM:619775
Leigh Syndrome
Diffuse spongiform leukoencephalopathy, Neuronal loss in basal ganglia, Focal T2 hyperintense bas... ORPHA:506
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome
Agenesis of corpus callosum ORPHA:52055
Trichothiodystrophy 4, Nonphotosensitive
Cerebral cortical atrophy, Partial agenesis of the corpus callosum, Microcephaly OMIM:234050
Stromme Syndrome
Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly, H... OMIM:243605
Microform Holoprosencephaly
Microcephaly, Holoprosencephaly, Agenesis of corpus callosum ORPHA:280200
Mosaic Variegated Aneuploidy Syndrome 1
Cerebral hypoplasia, Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly, Hydrocepha... OMIM:257300
Chromosome 14Q11-Q22 Deletion Syndrome
Inability to walk, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Microcephaly, ... OMIM:613457
Alexander Disease
Cerebral calcification, Agenesis of corpus callosum, Gait disturbance, Hydrocephalus, Ataxia, Aqu... ORPHA:58
Neuromuscular Oculoauditory Syndrome
Unsteady gait, Agenesis of corpus callosum OMIM:618733
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Agenesis of corpus callosum OMIM:618929
Fumarase Deficiency
Open operculum, Cerebral atrophy, Polymicrogyria, Hypoplasia of the brainstem, Agenesis of corpus... OMIM:606812
Chromosome 13Q33-Q34 Deletion Syndrome
Encephalocele, Agenesis of corpus callosum, Microcephaly, Anencephaly, Dandy-Walker malformation OMIM:619148
16P13.11 Microdeletion Syndrome
Microcephaly, Holoprosencephaly, Agenesis of corpus callosum ORPHA:261236
Holoprosencephaly 14
Alobar holoprosencephaly, Absent septum pellucidum, Microcephaly, Hydrocephalus, Partial absence ... OMIM:619895
Bohring-Opitz Syndrome
Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Micr... OMIM:605039
Toriello-Carey Syndrome
Abnormal corpus callosum morphology, Cerebral atrophy, Hypoplasia of the corpus callosum, Agenesi... ORPHA:3338
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Microcephaly, Colpocephaly, Hypoplasia of the corpus callosum, Agenesis of corpus callosum OMIM:617260
Brain-Lung-Thyroid Syndrome
Falls, Cavum septum pellucidum, Agenesis of corpus callosum, Microcephaly, Ataxia, Choreoathetosis ORPHA:209905
Duplication Of The Pituitary Gland
Microcephaly, Encephalocele, Hypoplasia of olfactory tract, Agenesis of corpus callosum ORPHA:314621
Pyruvate Carboxylase Deficiency
Tip-toe gait, Increased caudate lactate level, Periventricular cysts, Agenesis of corpus callosum... ORPHA:3008
Pancreatic Agenesis-Holoprosencephaly Syndrome
Semilobar holoprosencephaly, Holoprosencephaly, Agenesis of corpus callosum ORPHA:556955
Thakker-Donnai Syndrome
Communicating hydrocephalus, Agenesis of corpus callosum ORPHA:1780
Monosomy 13Q34
Microcephaly, Agenesis of corpus callosum ORPHA:96168
Endocrine-Cerebroosteodysplasia
Focal polymicrogyria, Absent septum pellucidum, Agenesis of corpus callosum, Aplasia/Hypoplasia o... OMIM:612651
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Cerebellar hypoplasia, Microcephaly, Agenesis of corpus callosum OMIM:217980
Melas
Aplasia/Hypoplasia of the cerebral white matter, Cerebral cortical atrophy, Basal ganglia calcifi... ORPHA:550
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Agenesis of corpus callosum OMIM:300472
Holoprosencephaly 12 With Or Without Pancreatic Agenesis
Semilobar holoprosencephaly, Absent septum pellucidum, Hypoplasia of the corpus callosum, Agenesi... OMIM:618500
Desmosterolosis
Microcephaly, Partial agenesis of the corpus callosum, Hydrocephalus, Aplasia/Hypoplasia of the c... OMIM:602398
Linear Skin Defects With Multiple Congenital Anomalies 3
Lateral ventricle dilatation, Agenesis of corpus callosum OMIM:300952
Neurooculorenal Syndrome
Cerebellar vermis hypoplasia, Hypoplasia of the pons, Polymicrogyria, Agenesis of corpus callosum... OMIM:620305
Mosaic Trisomy 1
Cerebellar vermis hypoplasia, Lateral ventricle dilatation, Polymicrogyria, Agenesis of corpus ca... ORPHA:1692
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Hypoplasia of the pons, Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly, Hydroce... OMIM:619512
Apert Syndrome
Hydrocephalus, Absent septum pellucidum, Agenesis of corpus callosum ORPHA:87
Orofaciodigital Syndrome Type 5
Microcephaly, Agenesis of corpus callosum ORPHA:2919
Peroxisome Biogenesis Disorder 5A (Zellweger)
Polymicrogyria, Agenesis of corpus callosum, Cerebellar hypoplasia, Lethargy, Colpocephaly, Pachy... OMIM:614866
Holoprosencephaly 13, X-Linked
Alobar holoprosencephaly, Semilobar holoprosencephaly, Agenesis of corpus callosum, Microcephaly,... OMIM:301043
Holoprosencephaly 7
Alobar holoprosencephaly, Semilobar holoprosencephaly, Hypoplasia of the brainstem, Agenesis of c... OMIM:610828
Xp21 Deletion Syndrome
Agenesis of corpus callosum ORPHA:261476
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Agenesis of corpus callosum OMIM:309520
Heterotaxy, Visceral, 2, Autosomal
Microcephaly, Agenesis of corpus callosum OMIM:605376
Kleefstra Syndrome
Cerebral cortical atrophy, Microcephaly, Agenesis of corpus callosum ORPHA:261494
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Hydrocephalus, Olivopontocerebell... ORPHA:457284
1Q21.1 Microdeletion Syndrome
Microcephaly, Hydrocephalus, Agenesis of corpus callosum ORPHA:250989
Genitopatellar Syndrome
Microcephaly, Agenesis of corpus callosum ORPHA:85201
Orofaciodigital Syndrome Vi
Cerebellar vermis hypoplasia, Polymicrogyria, Agenesis of corpus callosum, Porencephalic cyst, Oc... OMIM:277170
Opitz Gbbb Syndrome
Cerebellar vermis hypoplasia, Microcephaly, Agenesis of corpus callosum OMIM:300000
8P Inverted Duplication/Deletion Syndrome
Cerebellar hypoplasia, Dandy-Walker malformation, Agenesis of corpus callosum ORPHA:96092
Cono-Spondylar Dysplasia
Partial agenesis of the corpus callosum ORPHA:420794
21Q22.11Q22.12 Microdeletion Syndrome
Microcephaly, Agenesis of corpus callosum ORPHA:261323
Sotos Syndrome
Partial agenesis of the corpus callosum, Cavum septum pellucidum OMIM:117550
Linear Skin Defects With Multiple Congenital Anomalies 1
Absent septum pellucidum, Agenesis of corpus callosum, Microcephaly, Colpocephaly, Hydrocephalus OMIM:309801
15Q Overgrowth Syndrome
Hydrocephalus, Dandy-Walker malformation, Agenesis of corpus callosum ORPHA:314585
Beare-Stevenson Cutis Gyrata Syndrome
Hydrocephalus, Agenesis of corpus callosum OMIM:123790
Orofaciodigital Syndrome V
Microcephaly, Agenesis of corpus callosum OMIM:174300
Mycophenolate Mofetil Embryopathy
Hydrocephalus, Agenesis of corpus callosum ORPHA:268249
Genitourinary And/Or Brain Malformation Syndrome
Polymicrogyria, Secondary microcephaly, Absent septum pellucidum, Agenesis of corpus callosum, Dy... OMIM:618820
Fryns Syndrome
Cerebral cortical atrophy, Dandy-Walker malformation, Agenesis of corpus callosum ORPHA:2059
Encephalocraniocutaneous Lipomatosis
Cerebral cortical atrophy, Cerebral atrophy, Cerebral calcification, Absent septum pellucidum, Ag... ORPHA:2396
Hartsfield Syndrome
Semilobar holoprosencephaly, Alobar holoprosencephaly, Agenesis of corpus callosum, Microcephaly,... OMIM:615465
Apert Syndrome
Absent septum pellucidum, Agenesis of corpus callosum, Cerebellar hypoplasia, Hydrocephalus, Mega... OMIM:101200
Acromelic Frontonasal Dysostosis
Calcification of falx cerebri, Absent septum pellucidum, Tubulonodular pericallosal lipoma, Hypop... OMIM:603671
Right Atrial Isomerism
Agenesis of corpus callosum OMIM:208530
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Cerebral cortical atrophy, Microcephaly, Agenesis of corpus callosum ORPHA:847
Orofaciodigital Syndrome I
Abnormal cortical gyration, Cerebral atrophy, Myelomeningocele, Agenesis of corpus callosum, Micr... OMIM:311200
Histiocytoid Cardiomyopathy
Lethargy, Hydrocephalus, Agenesis of corpus callosum ORPHA:137675
Marshall-Smith Syndrome
Cerebral atrophy, Absent septum pellucidum, Hypoplasia of the corpus callosum, Agenesis of corpus... OMIM:602535
Trichothiodystrophy
Cerebral cortical atrophy, Gait ataxia, Periventricular leukomalacia, Microcephaly, Partial agene... ORPHA:33364
Lenz-Majewski Hyperostotic Dwarfism
Cerebral cortical atrophy, Agenesis of corpus callosum, Dysplastic corpus callosum, Microcephaly,... OMIM:151050
Bohring-Opitz Syndrome
Inability to walk, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Microcephaly, ... ORPHA:97297
Mosaic Trisomy 8
Agenesis of corpus callosum ORPHA:96061
Toriello-Lacassie-Droste Syndrome
Absent septum pellucidum, Agenesis of corpus callosum ORPHA:3339
Spondylometaphyseal Dysplasia, Sedaghatian Type
Cerebellar hypoplasia, Pachygyria, Agenesis of corpus callosum ORPHA:93317
Opitz Gbbb Syndrome
Abnormal corpus callosum morphology, Hypoplasia of the corpus callosum, Agenesis of corpus callos... ORPHA:2745
Fanconi Anemia, Complementation Group D2
Microcephaly, Hydrocephalus, Hypoplasia of the corpus callosum, Agenesis of corpus callosum OMIM:227646
Aicardi Syndrome
Cerebellar vermis hypoplasia, Lateral ventricle dilatation, Polymicrogyria, Microcephaly, Spina b... OMIM:304050
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Periventricular leukomalacia, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Mic... ORPHA:508498
Microphthalmia, Syndromic 3
Microcephaly, Optic nerve hypoplasia, Hypoplasia of the corpus callosum, Agenesis of corpus callosum OMIM:206900
Holoprosencephaly 1
Alobar holoprosencephaly, Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly, Ethmo... OMIM:236100
Craniofrontonasal Syndrome
Hypoplasia of the corpus callosum, Agenesis of corpus callosum OMIM:304110
Chromosome 13Q14 Deletion Syndrome
Holoprosencephaly, Absent septum pellucidum, Hypoplasia of the corpus callosum, Agenesis of corpu... OMIM:613884
Marden-Walker Syndrome
Absent septum pellucidum, Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly, Hydro... ORPHA:2461
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities
Difficulty walking, Agenesis of corpus callosum OMIM:618748
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Cerebellar vermis hypoplasia, Cerebral hypoplasia, Abnormal cortical gyration, Lateral ventricle ... OMIM:210710
Mismatch Repair Cancer Syndrome 1
Agenesis of corpus callosum OMIM:276300
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Agenesis of corpus callosum OMIM:613091
Vici Syndrome
Cerebellar vermis hypoplasia, Schizencephaly, Microcephaly, Agenesis of corpus callosum OMIM:242840
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Microcephaly, Hypoplasia of the corpus callosum, Agenesis of corpus callosum OMIM:619418
Structural Heart Defects And Renal Anomalies Syndrome
Microcephaly, Partial agenesis of the corpus callosum OMIM:617478
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Inability to walk, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Microcephaly, ... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Inability to walk, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Microcephaly, ... ORPHA:352665
Semilobar Holoprosencephaly
Inability to walk, Agenesis of corpus callosum, Microcephaly, Lethargy, Hydrocephalus, Neural tub... ORPHA:220386
Alobar Holoprosencephaly
Inability to walk, Agenesis of corpus callosum, Microcephaly, Lethargy, Hydrocephalus, Neural tub... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Inability to walk, Agenesis of corpus callosum, Microcephaly, Lethargy, Hydrocephalus, Neural tub... ORPHA:93926
Lobar Holoprosencephaly
Inability to walk, Agenesis of corpus callosum, Microcephaly, Lethargy, Hydrocephalus, Neural tub... ORPHA:93924
Opitz-Kaveggia Syndrome
Partial agenesis of the corpus callosum, Hydrocephalus OMIM:305450
Trisomy 8P
Microcephaly, Hydrocephalus, Dandy-Walker malformation, Agenesis of corpus callosum ORPHA:264450
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Lethargy, Optic nerve hypoplasia, Agenesis of corpus callosum ORPHA:226307
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Cranium bifidum occultum, Pericallosal lipoma, Agenesis of corpus callosum ORPHA:306542
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Hypoplasia of the corpus callosum, Agenesis of corpus callosum OMIM:619194
Aicardi Syndrome
Polymicrogyria, Microcephaly, Aplasia/Hypoplasia of the cerebellum, Pachygyria, Partial agenesis ... ORPHA:50
Orofaciodigital Syndrome Xiv
Cerebellar vermis hypoplasia, Occipital encephalocele, Polymicrogyria, Hypoplasia of the corpus c... OMIM:615948
Coffin-Siris Syndrome 4
Microcephaly, Dandy-Walker malformation, Agenesis of corpus callosum OMIM:614609
Meckel Syndrome, Type 1
Cerebral hypoplasia, Occipital encephalocele, Agenesis of corpus callosum, Cerebellar hypoplasia,... OMIM:249000
Jacobsen Syndrome
Pachygyria, Spina bifida, Cerebral atrophy, Agenesis of corpus callosum ORPHA:2308
Phace Syndrome
Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly, Dandy-Walker malformation, Opti... ORPHA:42775
Wolf-Hirschhorn Syndrome
Ataxia, Microcephaly, Aplasia/Hypoplasia of the cerebellum, Agenesis of corpus callosum ORPHA:280
Myoectodermal Gonadal Dysgenesis Syndrome
Agenesis of corpus callosum OMIM:618419
Perlman Syndrome
Agenesis of corpus callosum OMIM:267000
Coffin-Siris Syndrome
Microcephaly, Simplified gyral pattern, Dandy-Walker malformation, Agenesis of corpus callosum ORPHA:1465
Microgastria-Limb Reduction Defect Syndrome
Abnormal cortical gyration, Absent septum pellucidum, Agenesis of corpus callosum ORPHA:2538
Osteopathia Striata With Cranial Sclerosis
Spina bifida occulta, Partial agenesis of the corpus callosum, Hydrocephalus OMIM:300373
Lenz-Majewski Hyperostotic Dwarfism
Hydrocephalus, Absent septum pellucidum, Agenesis of corpus callosum ORPHA:2658
Holoprosencephaly 9
Abnormal cortical gyration, Alobar holoprosencephaly, Microcephaly, Hydrocephalus, Holoprosenceph... OMIM:610829
Orofaciodigital Syndrome Type 1
Ataxia, Dandy-Walker malformation, Agenesis of corpus callosum ORPHA:2750
Koolen-De Vries Syndrome Due To A Point Mutation
Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Microcephaly, Hydrocephalus, Spin... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Microcephaly, Hydrocephalus, Spin... ORPHA:363958
Acrocallosal Syndrome
Aplasia/Hypoplasia of the corpus callosum, Agenesis of corpus callosum OMIM:200990
Gabriele-De Vries Syndrome
Waddling gait, Abnormal cerebral white matter morphology, Hypoplasia of the corpus callosum, Agen... ORPHA:506358
14Q22Q23 Microdeletion Syndrome
Agenesis of corpus callosum ORPHA:264200
Smith-Lemli-Opitz Syndrome
Global brain atrophy, Hypoplasia of the corpus callosum, Hypoplasia of the frontal lobes, Diffuse... OMIM:270400
Monosomy 9P
Microcephaly, Agenesis of corpus callosum ORPHA:261112
Fryns Syndrome
Hypoplasia of olfactory tract, Hypoplasia of the optic tract, Dandy-Walker malformation, Agenesis... OMIM:229850
Microphthalmia With Linear Skin Defects Syndrome
Hydrocephalus, Microcephaly, Absent septum pellucidum, Agenesis of corpus callosum ORPHA:2556
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Agenesis of corpus callosum ORPHA:168558
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Partial agenesis of the corpus callosum, Thin corpus callosum, Spina bifida OMIM:619480
Rubinstein-Taybi Syndrome 1
Agenesis of corpus callosum, Hyperintensity of cerebral white matter on MRI, Microcephaly, Spina ... OMIM:180849
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Agenesis of corpus callosum ORPHA:289548
Combined Pituitary Hormone Deficiencies, Genetic Forms
Absent septum pellucidum, Agenesis of corpus callosum, Holoprosencephaly, Septo-optic dysplasia, ... ORPHA:95494
Holoprosencephaly 2
Alobar holoprosencephaly, Semilobar holoprosencephaly, Agenesis of corpus callosum, Cerebellar hy... OMIM:157170
Ring Chromosome 13 Syndrome
Microcephaly, Anencephaly, Agenesis of corpus callosum ORPHA:96176
Hydrolethalus Syndrome 1
Abnormal cortical gyration, Absent septum pellucidum, Agenesis of corpus callosum, Anencephaly, D... OMIM:236680
Neu-Laxova Syndrome 1
Hydranencephaly, Agenesis of corpus callosum, Cerebellar hypoplasia, Primary microcephaly, Dandy-... OMIM:256520
Chilton-Okur-Chung Neurodevelopmental Syndrome
Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Microcephaly, Communicating hydrocepha... OMIM:619841
Orofaciodigital Syndrome Type 14
Open operculum, Hypoplasia of the corpus callosum, Microcephaly, Partial agenesis of the corpus c... ORPHA:434179
Yunis-Varon Syndrome
Hypoplasia of the frontal lobes, Cerebellar hypoplasia, Agenesis of corpus callosum, Primary micr... ORPHA:3472
Chromosome 1P36 Deletion Syndrome, Distal
Leukoencephalopathy, Cerebral cortical atrophy, Lateral ventricle dilatation, Polymicrogyria, Hyp... OMIM:607872
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Cerebellar vermis hypoplasia, Dysmetria, Microcephaly, Ataxia, Truncal ataxia, Partial agenesis o... OMIM:220111
1P36 Deletion Syndrome
Microcephaly, Gait disturbance, Cerebral cortical atrophy, Agenesis of corpus callosum ORPHA:1606
Wolf-Hirschhorn Syndrome
Periventricular cysts, Absent septum pellucidum, Agenesis of corpus callosum, Microcephaly, Hydro... OMIM:194190
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Cerebral cortical atrophy, Absent septum pellucidum, Agenesis of corpus callosum, Cerebellar hypo... ORPHA:2273
Simpson-Golabi-Behmel Syndrome
Dandy-Walker malformation, Agenesis of corpus callosum ORPHA:373
Degcags Syndrome
Microcephaly, Agenesis of corpus callosum OMIM:619488
Wiedemann-Rautenstrauch Syndrome
Truncal ataxia, Hydrocephalus, Dandy-Walker malformation, Agenesis of corpus callosum OMIM:264090
Baller-Gerold Syndrome
Polymicrogyria, Agenesis of corpus callosum, Hydrocephalus, Spina bifida occulta, Optic nerve hyp... OMIM:218600
Monosomy 22Q13.3
Agenesis of corpus callosum ORPHA:48652
Wiedemann-Rautenstrauch Syndrome
Polymicrogyria, Abnormal corpus striatum morphology, Agenesis of corpus callosum, Cerebellar hypo... ORPHA:3455
Mowat-Wilson Syndrome
Abnormal corpus callosum morphology, Aplasia/Hypoplasia of the cerebral white matter, Hypoplasia ... OMIM:235730
Focal Dermal Hypoplasia
Myelomeningocele, Agenesis of corpus callosum, Microcephaly, Hydrocephalus, Spina bifida occulta OMIM:305600
Coffin-Siris Syndrome 1
Gait ataxia, Hypoplasia of the corpus callosum, Microcephaly, Spina bifida occulta, Partial agene... OMIM:135900
Femoral-Facial Syndrome
Encephalocele, Spina bifida, Agenesis of corpus callosum OMIM:134780
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Abnormal corpus callosum morphology, Cerebellar vermis hypoplasia, Broad-based gait, Lateral vent... ORPHA:261537
Genitopatellar Syndrome
Agenesis of corpus callosum, Microcephaly, Colpocephaly, Pachygyria, Thin corpus callosum OMIM:606170
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Abnormal corpus callosum morphology, Cerebellar vermis hypoplasia, Broad-based gait, Hypoplastic ... ORPHA:261552
Mowat-Wilson Syndrome
Cerebellar vermis hypoplasia, Broad-based gait, Focal cortical dysplasia, Polymicrogyria, Inabili... ORPHA:2152
Peters-Plus Syndrome
Microcephaly, Hydrocephalus, Cerebral atrophy, Agenesis of corpus callosum OMIM:261540
Simpson-Golabi-Behmel Syndrome, Type 1
Cerebellar vermis hypoplasia, Hydrocephalus, Agenesis of corpus callosum OMIM:312870
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Cerebellar hypoplasia, Dandy-Walker malformation, Agenesis of corpus callosum ORPHA:93271
Yunis-Varon Syndrome
Cerebellar vermis hypoplasia, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Cer... OMIM:216340
Townes-Brocks Syndrome
Agenesis of corpus callosum ORPHA:857
Craniofacial Microsomia 1
Occipital encephalocele, Hydrocephalus, Agenesis of corpus callosum OMIM:164210

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 Enah

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 Enah.

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

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
Enahtm2e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Enahtm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Enahtm213051(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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