Deafness, Autosomal Recessive 59 (PJVK)

Autosomal recessive deafness 59 is a disorder caused by pathogenic variants in the gene PJVK. The onset of this condition is typically at birth with mild to profound sensorineural hearing loss. In some cases, the hearing loss is progressive. Individuals with this form of hearing loss do not experience any other disease manifestations. This disorder has a higher incidence amongst individuals of Iranian ancestry. The lifespan is expected to be normal. No clear genotype-phenotype correlation has been established.

For information about carrier frequency and residual risk, please see the residual risk table.

This gene is included on the following panel(s):