Macrocephaly-autism syndrome
Macrocephaly-autism syndrome
Definition
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 — per MONDO