Human genes for Waardenburg syndrome type 4A
Waardenburg syndrome type 4A [DOID:0110953]
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 heterozygous or homozygous mutation in the EDNRB gene on chromosome 13q22.
Synonyms: Waardenburg syndrome type 4A, DOID:0110953, Waardenburg syndrome type IVA, Waardenburg syndrome with Hirschsprung disease type 4A, WS4A ...