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Waardenburg syndrome type 3; Klein-Waardenburg syndrome; Waardenburg syndrome with upper limb anomalies or white forelock with malformations
Epidemiology: rare
Genetics:
- associated with defects in PAX3
Clinical manifestations:
- shares clinical features of Waardenburg's syndrome 1
- musculoskeletal abnormalities
General
Waardenburg syndrome
Database Correlations
OMIM 148820
References
UniProt :accession P23760