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GENATLAS PHENOTYPE
last update : 12-05-2015
Symbol DFNMYP
Location 13q31.1
Name deafness and myopia
Corresponding gene SLITRK6
Main clinical features
  • congenital high myopia, with refraction error ranging from -7.25 to -10.25 diopters , and prelingual-onset moderate to severe bilateral sensorineural hearing loss necessitating hearing aids
  • Genetic determination autosomal recessive
    Function/system disorder ear
    eye
    Type disease
    Remark(s)
    Genotype/Phenotype correlations
  • homozygosity for the SLITRK6 Q414X mutation is associated with high myopia, cochlear dysfunction attributable to outer hair cell disease, and progressive auditory neuropathy