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Summary Literature (2)
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 Disease Ontology (on Monarch Initiative):
MONDO:0011537 - macrocephaly-autism syndrome

OMIM:
OMIM:605309 - MACROCEPHALY/AUTISM SYNDROME

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal dominant disease (is_a), syndrome (is_a)