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GENATLAS PHENOTYPE
last update : 21/04/2006
Symbol DFNB53
Location 6p21.32
Name neurosensory deafness 53
Corresponding gene COL11A2
Main clinical features
  • prelingual, profound, nonprogressive, and nonsyndromic sensorineural hearing loss
    • Genetic determination autosomal recessive
    Function/system disorder
    Type disease
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   abnormal protein/loss of function P621T
    Remark(s)