Waardenburg syndrome type 4A

Term ID

DOID:0110953

Synonyms

• Waardenburg syndrome type IVA
• Waardenburg syndrome with Hirschsprung disease type 4A
• WS4A

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 or homozygous mutation in the EDNRB gene on chromosome 13q22. https://www.ncbi.nlm.nih.gov/pubmed/8001158

References

• OMIM:277580

Ontology

Human Disease   ( DOID:0110953 )