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GENATLAS PHENOTYPE
last update : 11-02-2009
Symbol DFNB36
Location 1p36.31-p36.11
Name neurosensory deafness 36
Corresponding gene ESPN
Main clinical features
  • profound, non syndromic with vestibular areflexia, and hair cell degeneration
    • Genetic determination autosomal recessive
    Function/system disorder ear
    Type disease
    Gene product
    Name espin
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    various types   truncated protein  
    Remark(s)