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Metadata
ID DOID:0111403
Name mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations
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.
https://www.ncbi.nlm.nih.gov/pubmed/30449657
Xrefs

OMIM:618273

Synonyms

MCCCHCM [EXACT]

Parent Relationships

is_a syndromic intellectual disability

is_a autosomal dominant disease

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