Home Page
References OMIM Gene GeneReviews HGMD HGNC
GENATLAS PHENOTYPE
last update : 01-09-2015
Symbol USH2C
Location 5q14.3
Name Usher syndrome type IIC
Corresponding gene ADGRV1
Main clinical features
  • congenital moderate to severe neurosensory deafness, progressive with age, normal vestibular function, mild retinitis pigmentosa with greater rod than cone dysfunction, complicated by cystic macular lesions, and severe enamel hypoplasia
  • Genetic determination autosomal recessive
    Prevalence 5.2p100 of Usher type 2
    Function/system disorder ear
    eye
    Type disease
    Remark(s)