Disease association ontology term - MONDO:0011537 - macrocephaly-autism syndrome
Term summary
- ID
- MONDO:0011537
- Name
- macrocephaly-autism syndrome
- Ontology or CV name
- Disease association
- Definition
- An autosomal dominant disease 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.
