Term Name: Waardenburg syndrome type 4A
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.
Ontology: Human Disease [DOID:0110953]   ( DOID:0110953 )

Relationships
is a type of: Waardenburg syndrome