Waardenburg syndrome type 4C

Term ID

DOID:0110955

Synonyms

• Waardenburg syndrome type IVC
• Waardenburg syndrome with Hirschsprung disease type 4C
• WS4C

Definition

A Waardenburg 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. https://www.ncbi.nlm.nih.gov/pubmed/9462749

References

• OMIM:613266

Ontology

Human Disease   ( DOID:0110955 )