Term Name: | Waardenburg syndrome type 4A |
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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 ) |