Waardenburg syndrome type 4B (DOID:0110954)
Alliance: disease page
Synonyms: Waardenburg syndrome type IVB; Waardenburg syndrome with Hirschsprung disease type 4B; WS4B
Alt IDs: OMIM:613265
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 homozygous and heterozygous mutation in the EDN3 gene on chromosome 20q13.