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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 the MAST1 gene 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