Term Name: Waardenburg syndrome type 4C
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 )

Relationships
is a type of: Waardenburg syndrome