/autosomal recessive nonsyndromic hearing loss 1A

autosomal recessive nonsyndromic hearing loss 1A

Rare Disease

MONDO:0009076

Also Known As

autosomal recessive nonsyndromic hearing loss 1Adeafness, digenic GJB2/GJB6, Autosomal recessive, Digenic dominantdeafness, digenic, GJB2/GJB3, Autosomal recessive, Digenic dominantDFNB1DFNB1AGJB2-related deafnessautosomal recessive deafness 1Aautosomal recessive nonsyndromic deafness 1Aautosomal recessive nonsyndromic deafness type 1Aconnexin 26 deafnessdeafness nonsyndromic, connexin 26 linkeddeafness, autosomal recessive 1Adeafness, autosomal recessive 1a, autosomal recessive, digenic dominantdeafness, autosomal recessive type 1Adeafness, digenic, GJB2/GJB3deafness, digenic, GJB2/GJB6

Definition

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.