Human genes for macrocephaly-autism syndrome
Macrocephaly-autism syndrome [DOID:0060867]
A syndrome 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.
Synonyms: macrocephaly-autism syndrome, DOID:0060867, macrocephalyautism syndrome, macrocephaly-autism disease, macrocephaly-autism disorder ...