Home Page
References OMIM Gene GeneReviews HGMD HGNC
GENATLAS PHENOTYPE
last update : 02-04-2013
Symbol USH1J
Location 15q25.1
Name Usher syndrome, type IJ
Corresponding gene CIB2
Main clinical features
  • congenital profound sensorineural hearing loss, delayed onset of independent ambulation consistent with vestibular dysfunction, and variable severity of retinitis pigmentosa related to age
  • Genetic determination autosomal recessive
    Function/system disorder ear
    eye
    Type disease
    Remark(s)