# facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation

> human disease

**Wikidata**: [Q55784970](https://www.wikidata.org/wiki/Q55784970)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/DeSanto–Shinawi_syndrome)  
**Source**: https://4ort.xyz/entity/facial-dysmorphism-developmental-delay-behavioral-abnormalities-syndrome-due-to-wac-point-mutation


## References

1. Monarch Disease Ontology release 2018-06-29
2. UniProt
3. WAC loss-of-function mutations cause a recognisable syndrome characterised by dysmorphic features, developmental delay and hypotonia and recapitulate 10p11.23 microdeletion syndrome
4. UMLS 2023