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GENATLAS PHENOTYPE
last update : 11-09-2018
Symbol DFNA60
Location 2p11.2
Name neurosensory deafness 60
Corresponding gene ELMOD3
Main clinical features
  • autosomal dominant nonsyndromic hearing loss, late-onset and progressive
  • Genetic determination autosomal dominant
    Function/system disorder ear
    Type disease
    Remark(s) . p.His171Arg resulted in abnormal expression levels of ELMOD3 and abnormal subcellular localization (PMID: 29713870))