# Coffin-Siris syndrome 3

> autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of SMARCB1 on chromosome 22q11.23

**Wikidata**: [Q50349619](https://www.wikidata.org/wiki/Q50349619)  
**Source**: https://4ort.xyz/entity/coffin-siris-syndrome-3


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. UniProt
4. Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome
5. [Identifiers.org](https://registry.identifiers.org/registry/doid)