Term Name: | Waardenburg syndrome type 4C |
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Synonyms: | Waardenburg syndrome type IVC, Waardenburg syndrome with Hirschsprung disease type 4C, WS4C |
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 mutation in the SOX10 gene on chromosome 22q13. |
Ontology: | Human Disease [DOID:0110955] ( DOID:0110955 ) |