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Waardenburg syndrome type 2

Disease definition

An autosomal dominant subtype of Waardenburg syndrome (WS) characterized by varying degrees of deafness and pigmentation anomalies of eyes, hair and skin, but without dystopia canthorum.

ORPHA:895

Classification level: Subtype of disorder
  • Synonym(s):
    • WS2
    • Waardenburg syndrome type II
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Neonatal
  • ICD-10: E70.3
  • OMIM: 193510  600193  606662  608890  611584
  • UMLS: C2700265
  • MeSH: C536463
  • GARD: 5520
  • MedDRA: -

Detailed information

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