Term Name: | Waardenburg syndrome type 3 |
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Synonyms: | Klein-Waardenburg syndrome, Waardenburg syndrome type III, Waardenburg syndrome with upper limb anomalies, WS3 |
Definition: | A Waardenburg syndrome characterized by upper limb anomalies, congenital hearing loss, dystopia canthorum and pigmentation anomalies of eyes, hair, and skin that has_material_basis_in heterozygous or homozygous mutation in the PAX3 gene on chromosome 2q36. |
Ontology: | Human Disease [DOID:0110949] ( DOID:0110949 ) |