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GENATLAS PHENOTYPE
last update : 18-01-2012
Symbol DFNB12
Location 10q22.1
Name neurosensory deafness 12
Corresponding gene CDH23
related resource Genetics hearing impairment
Main clinical features
  • non syndromic, prelingual, stable, profound
    • Genetic determination autosomal recessive
    Prevalence 3.3 p100 of all DFNB (PMID: 21117948)
    Function/system disorder ear
    Type disease
    Gene product
    Name cadherin related 23
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   unknown  
    Remark(s)
  • disorder that is caused by defects in tip links (Schwander 2009)
  • missense mutation leads to progressive tip-link loss and, ultimately, to hair cell death (Schwander 2009)