Human genes for mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations
Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations [DOID:0111403]
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.
Synonyms: mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations, DOID:0111403, megacorpuscallosum syndrome with cerebellar hypoplasia and cortical malformations, mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformationses, MCCCHCM ...