DISEASES

Disease-gene associations mined from literature

Human genes for Waardenburg syndrome type 4B

Waardenburg syndrome type 4B [DOID:0110954]

A 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 homozygous and heterozygous mutation in the EDN3 gene on chromosome 20q13.

Synonyms:  Waardenburg syndrome type 4B,  DOID:0110954,  WS4B,  Waardenburg syndrome type IVB,  Waardenburg syndrome with Hirschsprung disease type 4B ...