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Up to: Disorder of development or morphogenesis · Autosomal dominant disease
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.
This condition has no sub-types.