Term Name: Waardenburg syndrome type 3
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 )

Relationships
is a type of: Waardenburg syndrome