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GENATLAS PHENOTYPE
last update : 17/07/2006
Symbol KID2
Location 13q12.11
Name keratitis-ichthyosis-deafness syndrome 2
Corresponding gene GJB6
Main clinical features
  • congenital sensorineural hearing loss and disorders of cornification with congenital atrichia
    • Genetic determination autosomal dominant
    Function/system disorder
    Type disease
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense     V37E predicted to alter sequence and charge of the first transmembrane helix
    Remark(s)