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Waardenburg syndrome type 1
rareWaardenburg syndrome type 1 (WS1) is a subtype of Waardenburg syndrome (WS), disorder characterized by congenital deafness, minor defects in structures arising from neural crest resulting in pigmentation anomalies of eyes, hair, and skin, in combination with dystopia canthorum.
- Identifiers
- MONDO:0008670 OMIM:193500Orphanet:894
- Causal genes
- PAX3
- Part of
- Waardenburg syndrome
- Also known as
- Waardenburg syndrome type I · Waardenburg syndrome, type 1 · Waardenburg's syndrome type 1 · WS1
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