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autosomal recessive nonsyndromic hearing loss 1A

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Disease Overview

An autosomal recessive disorder caused by mutations in the GJB2 gene, encoding gap junction beta-2 protein. The condition is characterized by profound sensorineural hearing loss and may be associated with vestibular dysfunction.

Synonyms

  • DFNB1
  • DFNB1A
  • GJB2-related deafness
  • autosomal recessive deafness 1A
  • autosomal recessive nonsyndromic deafness 1A
  • autosomal recessive nonsyndromic deafness type 1A
  • autosomal recessive nonsyndromic hearing loss 1A
  • connexin 26 deafness
  • deafness nonsyndromic, connexin 26 linked
  • deafness, autosomal recessive 1A
  • deafness, autosomal recessive 1a, autosomal recessive, digenic dominant
  • deafness, autosomal recessive type 1A
  • deafness, digenic GJB2/GJB6, Autosomal recessive, Digenic dominant
  • deafness, digenic, GJB2/GJB3
  • deafness, digenic, GJB2/GJB3, Autosomal recessive, Digenic dominant
  • deafness, digenic, GJB2/GJB6DFNB1
  • DFNB1A
  • GJB2-related deafness
  • autosomal recessive deafness 1A
  • autosomal recessive nonsyndromic deafness 1A
  • autosomal recessive nonsyndromic deafness type 1A
  • autosomal recessive nonsyndromic hearing loss 1A
  • connexin 26 deafness
  • deafness nonsyndromic, connexin 26 linked
  • deafness, autosomal recessive 1A
  • deafness, autosomal recessive 1a, autosomal recessive, digenic dominant
  • deafness, autosomal recessive type 1A
  • deafness, digenic GJB2/GJB6, Autosomal recessive, Digenic dominant
  • deafness, digenic, GJB2/GJB3
  • deafness, digenic, GJB2/GJB3, Autosomal recessive, Digenic dominant
  • deafness, digenic, GJB2/GJB6
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