Waardenburg syndrome type 3

Term ID

DOID:0110949

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. (2)

References

• GARD:5523
• ICD10CM:E70.3
• OMIM:148820
• ORDO:896

Ontology

Human Disease   ( DOID:0110949 )