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Usher syndrome type 3B

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Description

Usher syndrome type III is characterized by postlingual, progressive hearing loss, variable vestibular dysfunction, and onset of retinitis pigmentosa symptoms, including nyctalopia, constriction of the visual fields, and loss of central visual acuity, usually by the second decade of life (Karjalainen et al., 1985; Pakarinen et al., 1995). For a discussion of genetic heterogeneity of type III Usher syndrome, see USH3A (276902).

OMIM

  • Mode of Inheritance

  • Autosomal recessive inheritance

VARIANTS

138

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Genes

External Links

  • OMIM

    614504

  • Orphanet
  • HPO
  • Medgen

    C3281066

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