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mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations
Summary
- Synonym
-
- MCCCHCM
- Definition
- A syndromic intellectual disability characterized by global developmental delay, impaired intellectual development, and characteristic brain abnormalities that has_material_basis_in heterozygous mutation in the MAST1 gene on chromosome 19p13.13.
- Super Class
- autosomal dominant disease syndromic intellectual disability
External Links
- Disease Ontology
- DOID:0111403
- Mondo Disease Ontology
- OMIM
- MGI genotype (from TogoID)
Related Genes
