Macrocephaly-autism syndrome

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, macrocephaly/autism syndrome

1 clinical trial for this condition and its sub-types, 1 tagged with Macrocephaly-autism syndrome itself.