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Waardenburg syndrome type 1

Disease definition

Waardenburg syndrome type 1 (WS1) is a subtype of Waardenburg syndrome (WS; see this term), 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.

ORPHA:894

  • Synonym(s):
    • WS1
    • Waardenburg syndrome type I
  • Prevalence: 1-9 / 100 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Neonatal
  • ICD-10: E70.3
  • OMIM: 193500
  • UMLS: C1847800
  • MeSH: -
  • GARD: 5519
  • MedDRA: -

Detailed information

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