Term Name:	macrocephaly-autism syndrome
Synonyms:	macrocephaly-intellectual disability-autism syndrome
Definition:	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.
Ontology:	Human Disease [DOID:0060867]   ( DOID:0060867 )