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Waardenburg syndrome type 1

Synonym(s) WS1
Prevalence 1-9 / 100 000
Inheritance Autosomal dominant
Age of onset Neonatal
  • E70.3
  • C1847800
MeSH -
MedDRA -


Waardenburg syndrome type 1 (WS1) is a subtype of Waardenburg syndrome (WS; see this term), disorder characterized by congenital of deafness, minor defects in structures arising from neural crest resulting in pigmentation anomalies of eyes, hair, and skin, in combination with dystopia canthorum.

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Clinical genetics review
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