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Café-au-lait macules with pulmonary stenosis

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Description

Watson syndrome is an autosomal dominant disorder characterized by pulmonic stenosis, cafe-au-lait spots, decreased intellectual ability (Watson, 1967), and short stature (Partington et al., 1985). Most affected individuals have relative macrocephaly and Lisch nodules and about one-third of those affected have neurofibroma (Allanson et al., 1991).

OMIM

  • Mode of Inheritance

  • Autosomal dominant inheritance

VARIANTS

192

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Genes

External Links

  • OMIM

    193520

  • Orphanet

    3444

  • HPO
  • Medgen

    C0553586

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