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WAARDENBURG SYNDROME [1 record]

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Record 1 2019-12-05

English

Subject field(s)
  • Human Diseases - Various
  • Genetics
CONT

Waardenburg syndrome is a genetic disorder that may be evident at birth (congenital). The range and severity of associated symptoms and findings may vary greatly from case to case. However, primary features often include distinctive facial abnormalities; unusually diminished coloration (pigmentation) of the hair, the skin, and/or the iris of both eyes (irides); and/or congenital deafness.

French

Domaine(s)
  • Maladies humaines diverses
  • Génétique
DEF

Association de malformations congénitales comportant une surdité, des anomalies morphologiques de la face et des troubles de la pigmentation, d'origine génétique, le plus souvent à transmission autosomique dominante, à expressivité variable et entrant dans le cadre des neurocristopathies.

Spanish

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