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autosomal dominant nonsyndromic sensorineural deafness 14 (deafness autosomal dominant type 6)
Pathology:
- sensorineural deafness
Genetics:
1) autosomal dominant
2) 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
Special laboratory:
- low-frequency hearing loss in which frequencies of 2000 Hz & below are predominantly affected
- high-frequency hearing is generally preserved
General
familial deafness
Database Correlations
OMIM 600965
References
OMIM :accession 600965