Term Name: Waardenburg syndrome type 4B
Synonyms: Waardenburg syndrome type IVB, Waardenburg syndrome with Hirschsprung disease type 4B, WS4B
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.
Ontology: Human Disease [DOID:0110954]   ( DOID:0110954 )

Relationships
is a type of: Waardenburg syndrome