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GENATLAS PHENOTYPE
last update : 14-11-2012
Symbol DFNB93
Location 11q13
Name deafness, autosomal recessive 93
Corresponding gene CABP2
Main clinical features
  • moderate to severe prelingual deafness and a distinctive U-shaped audiogram
  • hearing loss was moderate to severe and was more pronounced in the mid-frequencies
  • Genetic determination autosomal dominant
    Function/system disorder ear
    Type disease
    Remark(s)