# macrocephaly-autism syndrome

> human disease

**Wikidata**: [Q32136586](https://www.wikidata.org/wiki/Q32136586)  
**Source**: https://4ort.xyz/entity/macrocephaly-autism-syndrome


## References

1. Monarch Disease Ontology release 2018-06-29
2. Disease Ontology
3. UniProt
4. Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutations
5. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000171862/MONDO_0011537)
6. [Identifiers.org](http://www.ebi.ac.uk/miriam/main/collections/MIR:00000233)
7. UMLS 2023