mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations

Summary

DOID:0111403 - mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations

Disease Ontology 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.

Synonyms: MCCCHCM,

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal dominant disease (is_a), syndromic intellectual disability (is_a)