Visualize Submit Comment

Metadata
ID	DOID:0060867
Name	macrocephaly-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. https://www.ncbi.nlm.nih.gov/pubmed/15805158, https://www.ncbi.nlm.nih.gov/pubmed/1719811
Xrefs	MESH:C565342 MIM:605309 ORDO:210548
Subsets	DO_rare_slim
Synonyms	macrocephaly-intellectual disability-autism syndrome [EXACT]
Parent Relationships	is_a syndrome is_a autosomal dominant disease