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Waardenburg syndrome type 1

Orpha number ORPHA894
Synonym(s) WS1
Prevalence 1-9 / 100 000
Inheritance Autosomal dominant
Age of onset Infancy
Neonatal
ICD-10
  • E70.3
ICD-O -
OMIM
UMLS
  • C1847800
MeSH -
MedDRA -
SNOMED CT -

Summary

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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Detailed information

Clinical genetics review
  • EN (2012)
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