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GENATLAS PHENOTYPE
last update : 22-09-2017
Symbol DFNA4
Location 19q13.33
HGNC id 2809
Name neurosensory deafness 4
Corresponding gene MYH14
Other symbol(s) DFNA4A
Main clinical features
  • non syndromic, postlingual, slowly progressive with delayed onset
    • Genetic determination autosomal dominant
    Function/system disorder ear
    Type disease
    Gene product
    Name myosin heavy polypeptide 14
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense     two missense (L976F, R726S)
    nonsense     one nonsense (Ser7Ter)
    Remark(s)