Variants
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Usher syndrome type 2C

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Description

Usher syndrome type II (USH2) is characterized by the following: Congenital, bilateral sensorineural hearing loss that is mild to moderate in the low frequencies and severe to profound in the higher frequencies. Intact or variable vestibular responses. Retinitis pigmentosa (RP); progressive, bilateral, symmetric retinal degeneration that begins with night blindness and constricted visual fields (tunnel vision) and eventually includes decreased central visual acuity; the rate and degree of vision loss vary within and among families.

GeneReviews

  • Mode of Inheritance

  • Autosomal recessive inheritance
  • Digenic dominant (see MISCELLANEOUS)

VARIANTS

473

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Genes

External Links

  • OMIM

    605472

  • Orphanet
  • HPO
  • Medgen

    C2931213

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