Term Name: mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations
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 MAST1 on chromosome 19p13.13.
Ontology: Human Disease [DOID:0111403]   (DOID:0111403)

Relationships
is a type of: autosomal dominant disease syndromic intellectual disability