Variants
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Autosomal dominant nonsyndromic hearing loss 1

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Description

DFNA1 is an autosomal dominant form of progressive hearing loss with onset in the first decade. Some patients have mild thrombocytopenia and enlarged platelets, although most of these individuals do not have significant bleeding tendencies (summary by Neuhaus et al., 2017).

OMIM

  • Mode of Inheritance

  • Autosomal dominant inheritance

VARIANTS

293

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Genes

External Links

  • OMIM

    124900

  • Orphanet
  • HPO
  • Medgen

    C1852282

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