# Waardenburg syndrome type 4C

> Waardenburg's syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and Hirschsprung disease that has material basis in heterozygous mutation in the SOX10 gene on chromosome 22q13

**Wikidata**: [Q32145200](https://www.wikidata.org/wiki/Q32145200)  
**Source**: https://4ort.xyz/entity/waardenburg-syndrome-type-4c


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. UniProt
4. SOX10 mutations in patients with Waardenburg-Hirschsprung disease
5. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/00a5b707-a265-4af0-a7e1-f15734ea42b9--2018-06-19T16:00:00)
6. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_00a5b707-a265-4af0-a7e1-f15734ea42b9-2018-06-19T160000.000Z)
7. [Identifiers.org](https://registry.identifiers.org/registry/doid)