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GENATLAS PHENOTYPE
last update : 16-05-2009
Symbol KHM2
Location 13q12.11
Name keratoderma (hyperkeratosis), palmoplantar, mutilans, 2
Other name(s)
  • Vohwinkel syndrome
  • deafness, congenital, with keratopachydermia and constrictions of fingers and toes
  • Corresponding gene GJB2
    Other symbol(s) KHM
    Main clinical features
  • ectodermal dysplasia, neurosensory deafness with palmoplantar keratoderma (hyperkeratosis), constricting bands on the fifth digits of hands and feet (pseudoainhum)
  • Genetic determination autosomal dominant
    Related entries . including cases of isolated neurosensory deafness and palmar keratoderma
    Function/system disorder dermatology
    Type disease
    Gene product
    Name connexin 26
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    unknown     R75Q substitution
    Remark(s)