Usher Syndrome Type 1F

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Disease Name 
Usher Syndrome Type 1F
Disease Information 

PCDH15 (p.R245X), USH1F, is part of the Usher Syndrome group of autosomal recessive disorders characterized by progressive pigmentary retinopathy caused by the redistribution of the pigment in the fundus of the eye, vestibular dysfunction, and sensorineural hearing loss. Distinctions between the types of this syndrome are based on auditory and vestibular differences. USH1F individuals exhibit deafness and vestibular dysfunction, but do not exhibit retinal degradation.

Genes