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 | |
Synonyms |
MCCCHCM [EXACT] |
Parent Relationships |