Mondo Description Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the GJB6 gene.

Uniprot Description A form of non-syndromic sensorineural hearing loss characterized by a variable phenotype, ranging from bilateral middle to high frequency hearing loss to profound sensorineural deafness. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information.