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GENATLAS PHENOTYPE
last update : 16-09-2020
Symbol DFNA71
Location 15q21.2
Name deafness, autosomal dominant 71
Corresponding gene DMXL2
Main clinical features
  • onset of bilateral mild to moderate hearing loss before age 20 years, which gradually progressed to severe to profound hearing loss
  • click-evoked otoacoustic emission was absent for all affected individuals without vestibular dysfunction
  • Genetic determination autosomal dominant
    Function/system disorder ear
    Type disease
    Remark(s)