OBO ID: DOID:0060867
Term Name: macrocephaly-autism syndrome Search Ontology:
Synonyms:
  • macrocephaly-intellectual disability-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. (2)
References:
Ontology: Human Disease   (DOID:0060867)
OTHER macrocephaly-autism syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
PTEN Macrocephaly/autism syndrome 605309
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None