Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations

**Semantic type:** Disease or Syndrome

**Definition:** An autosomal dominant condition caused by mutation(s) in the MAST1 gene, encoding microtubule-associated serine/threonine-protein kinase 1. It is characterized by enlargement of the corpus callosum, cerebellar hypoplasia, and cortical malformations.

**Synonyms:** - MCCCHCM