Variants
Sign InSign Up

Usher syndrome type 1F

Your Results

Sign In

Description

Usher syndrome type I (USH1) is characterized by congenital, bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa (RP). Unless fitted with a cochlear implant, individuals do not typically develop speech. RP, a progressive, bilateral, symmetric degeneration of rod and cone functions of the retina, develops in adolescence, resulting in progressively constricted visual fields and impaired visual acuity.

GeneReviews

  • Mode of Inheritance

  • Autosomal recessive inheritance

VARIANTS

407

SEE THE VARIANTS →

Genes

External Links

  • OMIM

    602083

  • Orphanet
  • HPO
  • Medgen

    C1865885

© 2024 Biocodify. All rights reserved.

TwitterTwitter

Product

HomePricingDashboard

Stay up to date

The latest news and updates from Biocodify, sent to your inbox.