MedGen

DFNA2 nonsyndromic hearing loss is characterized by symmetric, predominantly high-frequency sensorineural hearing loss (SNHL) that is progressive across all frequencies. At younger ages, hearing loss tends to be mild in the low frequencies and moderate in the high frequencies; in older persons, the hearing loss is moderate in the low frequencies and severe to profound in the high frequencies. Although the hearing impairment is often detected during routine hearing assessment of a school-age child, it is likely that hearing is impaired from birth, especially at high frequencies. Most affected persons initially require hearing aids to assist with sound amplification between ages ten and 40 years. By age 70 years, all persons with DFNA2 nonsyndromic hearing loss have severe-to-profound hearing impairment. [from GeneReviews]

Nonsyndromic hearing loss and deafness, DFNA3 is characterized by pre- or postlingual mild-to-profound progressive high-frequency sensorineural hearing impairment. Affected individuals have no other associated medical findings. [from GeneReviews]

Nonsyndromic hearing loss and deafness, DFNA3 is characterized by pre- or postlingual mild-to-profound progressive high-frequency sensorineural hearing impairment. Affected individuals have no other associated medical findings. [from GeneReviews]

Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the LOXHD1 gene. [from MONDO]

Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the LRTOMT gene. [from MONDO]

Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the COL11A2 gene. [from MONDO]

Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the GJB3 gene. [from MONDO]

Nonsyndromic hearing loss and deafness (DFNB1) is characterized by congenital non-progressive mild-to-profound sensorineural hearing impairment. No other associated medical findings are present. [from GeneReviews]

Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the PJVK gene. [from MONDO]

An autosomal dominant condition caused by mutations in the TMC1 gene, encoding transmembrane channel-like protein 1. It is characterized by bilateral progressive hearing loss. [from NCI]

Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the MYO6 gene. [from MONDO]

Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the MYO1A gene. [from MONDO]

An autosomal recessive disorder caused by mutations in the HGF gene, encoding hepatocyte growth factor. It is characterized by profound deafness. [from NCI]

Mitochondrial nonsyndromic hearing loss and deafness is characterized by sensorineural hearing loss (SNHL) of variable onset and severity. Pathogenic variants in MT-RNR1 can be associated with predisposition to aminoglycoside ototoxicity and/or late-onset SNHL. Hearing loss associated with aminoglycoside ototoxicity is bilateral and severe to profound, occurring within a few days to weeks after administration of any amount (even a single dose) of an aminoglycoside antibiotic such as gentamycin, tobramycin, amikacin, kanamycin, or streptomycin. Pathogenic variants in MT-TS1 are usually associated with childhood onset of SNHL that is generally nonsyndromic – although the MT-TS1 substitution m.7445A>G has been found in some families who also have palmoplantar keratoderma (scaling, hyperkeratosis, and honeycomb appearance of the skin of the palms, soles, and heels). [from GeneReviews]

DFNA9 is an autosomal dominant adult-onset form of progressive sensorineural hearing loss associated with variable vestibular dysfunction (summary by Robertson et al., 2006). [from OMIM]

Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the RDX gene. [from MONDO]

Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the USH1C gene. [from MONDO]

Autosomal dominant deafness-15 is a form of progressive nonsyndromic sensorineural hearing loss with postlingual onset between the second and sixth decades of life (summary by Kim et al., 2013). [from OMIM]

Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the TECTA gene. [from MONDO]

Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the MYH9 gene. [from MONDO]