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 ) |