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. The disease is Monarch Disease Ontology entry MONDO_0009076 (autosomal recessive nonsyndromic hearing loss 1A). Also known as: deafness, digenic GJB2/GJB6, Autosomal recessive, Digenic dominant, deafness, digenic, GJB2/GJB3, Autosomal recessive, Digenic dominant.