Monarch Disease Ontology entry MONDO_0011537 (macrocephaly-autism syndrome) is an autosomal dominant disease characterized by macrocephaly, facial phenotypes including square outline with frontal bossing, 'dished-out' midface, biparietal narrowing, and long philtrum, developmental delay and autism that has material basis in heterozygous mutation in the PTEN gene on chromosome 10q23. Also known as: macrocephaly-intellectual disability-autism syndrome.