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Knuckle pads, deafness AND leukonychia syndrome

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Description

Bart-Pumphrey syndrome (BAPS) is an autosomal dominant disorder characterized by sensorineural hearing loss, palmoplantar keratoderma, knuckle pads, and leukonychia, which show considerable phenotypic variability (summary by Richard et al., 2004).

OMIM

  • Mode of Inheritance

  • Autosomal dominant inheritance

VARIANTS

23

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Genes

External Links

  • OMIM

    149200

  • Orphanet

    2698

  • HPO
  • Medgen

    C0266004

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