Version: 8.0.0
Date: Tue Jan 28 2025
macrocephaly-autism syndrome
DOID:0060867
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

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.
Synonyms
  • macrocephaly-intellectual disability-autism syndrome
Cross References
Parent Terms
Child Terms
None
Sources of Associations

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