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MCID: MGC007
MIFTS: 13
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Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations
Categories:
Genetic diseases, Neuronal diseases
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Aliases & Classifications for Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and...
MalaCards integrated aliases for Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations:
Name: Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations
58
6
Characteristics:OMIM:58
Inheritance:
autosomal dominant
Miscellaneous:
variable phenotype onset in infancy de novo mutation Classifications: |
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OMIM
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58
MCCCHCM is an autosomal dominant neurodevelopmental disorder characterized by global developmental delay, impaired intellectual development, and characteristic brain abnormalities on brain imaging. Affected individuals have enlargement of the corpus callosum, enlarged ventricles, and cerebellar and brainstem hypoplasia. Other features may include lack of speech development, gait instability, and seizures. Some patients with MAST1 mutations may have impaired intellectual development and/or autism spectrum disorder without significant findings on brain imaging (summary by Tripathy et al., 2018). (618273)
MalaCards based summary : Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations, also known as mccchcm, is related to cerebellar hypoplasia. An important gene associated with Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations is MAST1 (Microtubule Associated Serine/Threonine Kinase 1). Affiliated tissues include brain. |
Diseases related to Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations via text searches within MalaCards or GeneCards Suite gene sharing:
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Symptoms via clinical synopsis from OMIM:58Clinical features from OMIM:618273 |
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MalaCards organs/tissues related to Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations:42
Brain
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Articles related to Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations:
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Genes related to Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations:6
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Search
GEO
for disease gene expression data for Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations.
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