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.
MONDO:0000426
autosomal dominant disease
is_a
MONDO:0021147
disorder of development or morphogenesis
is_a
macrocephaly-intellectual disability-autism syndrome
exact
SPBC609.02