macrocephaly-autism syndrome (DOID:0060867)
Alliance: disease page
Synonyms: macrocephaly-intellectual disability-autism syndrome
Alt IDs: OMIM:605309, MESH:C565342, ORDO:210548
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.