Home Page
References OMIM Gene GeneReviews HGMD HGNC
GENATLAS PHENOTYPE
last update : 05-07-2016
Symbol DFNB105
Location 1p21.2
Name deafness, autosomal recessive 105
Corresponding gene CDC14A
Main clinical features
  • prelingual severe to profound deafness of cochlear origin
  • Genetic determination autosomal recessive
    Function/system disorder ear
    Type disease
    Remark(s)
  • loss-of-function mutations of CDC14A cause severe to profound congenital deafness, suggesting that the hearing impairment arises from abnormally short kinocilia in the differentiating hair bundles of cochlear sensory cells (PMID: 27259055))