Term Name: | mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations |
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Synonyms: | 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. |
Ontology: | Human Disease [DOID:0111403] ( DOID:0111403 ) |