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GTR Home > Conditions/Phenotypes > Usher syndrome type 1

Summary

Excerpted from the GeneReview: Usher Syndrome Type I
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.

Genes See tests for all associated and related genes

  • Also known as: DFNA11, DFNB2, MYOVIIA, MYU7A, NSRD2, USH1B, MYO7A
    Summary: myosin VIIA

  • Also known as: AIE-75, DFNB18, DFNB18A, NY-CO-37, NY-CO-38, PDZ-45, PDZ-73, PDZ-73/NY-CO-38, PDZ73, PDZD7C, ush1cpst, USH1C
    Summary: USH1 protein network component harmonin

Clinical features

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