Autosomal recessive nonsyndromic hearing loss 1A

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.

Also known as: autosomal recessive nonsyndromic hearing loss 1A, deafness, digenic GJB2/GJB6, Autosomal recessive, Digenic dominant, deafness, digenic, GJB2/GJB3, Autosomal recessive, Digenic dominant, DFNB1, DFNB1A, GJB2-related deafness, autosomal recessive deafness 1A, autosomal recessive nonsyndromic deafness 1A

2 clinical trials for this condition and its sub-types.