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

Term ID

DOID:0111403

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. https://www.ncbi.nlm.nih.gov/pubmed/30449657

References

• OMIM:618273

Ontology

Human Disease   ( DOID:0111403 )