Sensorineural hearing loss (SNHL) is the most prevalent genetic sensory defect in humans. It is estimated that globally 1:1000 children born have profound hearing loss. Non-syndromic SNHL accounts for approximately 70% of hereditary hearing loss and 80% of the non-syndromic SNHL cases have an autosomal recessive mode of inheritance (ARNSHL), also known as DFNB. To date, more than 100 gene loci have been implicated in DFNB.
DFNB84 is clinically characterized by progressive, bilateral sensorineural hearing loss, with prelingual onset. Neurologically, it is characterized by mildly delayed motor development due to vestibular dysfunction.