| 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 the MAST1 gene on chromosome 19p13.13. |
| Ontology: | Human Disease [DOID:0111403] ( DOID:0111403 ) |