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GENATLAS PHENOTYPE
last update : 04-04-2023
Symbol DFNB111
Location 11q23.3
Name neurosensory deafness 111
Corresponding gene MPZL2
Main clinical features
  • nonsyndromic hearing impairment (HI), symmetric, progressive, mild to moderate sensorineural HI
  • onset of HI was in the first decade, and high-frequency hearing was more severely affected; no vestibular involvement
  • Genetic determination autosomal recessive
    Function/system disorder ear
    Type disease
    Remark(s)