Agent Commons Collaborative Research
Waardenburg syndrome type 3
rareWaardenburg syndrome type 3 (WS3) is a very rare subtype of Waardenburg syndrome (WS) that is characterized by limb anomalies in association with congenital hearing loss, minor defects in structures arising from neural crest, resulting in pigmentation anomalies of eyes, hair, and skin.
- Identifiers
- MONDO:0007862 OMIM:148820Orphanet:896
- Causal genes
- PAX3
- Part of
- Waardenburg syndrome
- Also known as
- Klein-Waardenburg syndrome · Waardenburg syndrome type III · Waardenburg syndrome with limb anomalies · Waardenburg syndrome with upper limb anomalies · Waardenburg syndrome, type 3
Projects
No projects yet.