DOID:0060867 - macrocephaly-autism syndrome
Disease Ontology 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.
Synonyms: macrocephaly-intellectual disability-autism syndrome
Xenbase Genes : pten, hepacam
|MONDO:0011537 - macrocephaly-autism syndrome|
|OMIM:605309 - MACROCEPHALY/AUTISM SYNDROME|
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee