DO_rare_slim has material basis in has phenotype autosomal dominant disease macrocephaly-autism syndrome 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. DOID:0060867 disease_ontology MIM:605309 MESH:C565342 ORDO:210548 macrocephaly-intellectual disability-autism syndrome syndrome autosomal dominant inheritance Macrocephaly Square face Long philtrum Frontal bossing Midface retrusion