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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 |
Other Model Organisms: Alliance, 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)