Home Page
References OMIM Gene GeneReviews HGMD HGNC
GENATLAS PHENOTYPE
last update : 29-03-2023
Symbol DFNB110
Location 14q12
Name deafness, autosomal recessive 110
Corresponding gene COCH
Main clinical features
  • bilateral hearing loss, prelingual, detected by newborn screening
  • pure tone audiometry testing showed downward sloping thresholds, but no sclerotic lesions in the semicircular canals
  • Genetic determination autosomal recessive
    Function/system disorder ear
    Type disease
    Remark(s)