autosomal dominant nonsyndromic sensorineural deafness 14 (deafness autosomal dominant type 6)

Pathology

• sensorineural deafness

Genetics

• autosomal dominant
• associated with mutations in defects in wolframin (WFS1)

Clinical manifestations

• low-frequency hearing loss
• many patients have tinnitus
• not associated with vertigo
• since high-frequency hearing is generally preserved, patients retain excellent understanding of speech, although presbycusis or noise exposure may cause high-frequency loss later in life
• worsens over time without progressing to profound deafness

Diagnostic procedures

• low-frequency hearing loss in which frequencies of 2000 Hz & below are predominantly affected
• high-frequency hearing is generally preserved

More general terms

• familial deafness

Database

• OMIM: https://mirror.omim.org/entry/600965