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References OMIM Gene GeneReviews HGMD HGNC
GENATLAS PHENOTYPE
last update : 15-09-2014
Symbol DFN6
Location Xp22.12
HGNC id 2779
Name deafness 6, neurosensory, progressive
Corresponding gene SMPX
Other symbol(s) DFNX4
Main clinical features
  • non syndromic, bilateral, symmetric, sensorineural, postlingual, and progressive
  • detected at school age (5-7 years), and it affected mainly high-frequency hearingIt . later evolved to become severe to profound and affected all frequencies
  • carrier females manifested moderate hearing impairment in the high frequencies with onset in the fourth decade of life
    • Genetic determination sex linked
    Function/system disorder ear
    Type disease
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    nonsense   abnormal protein/loss of function  
    Remark(s)