Symbol
| DFNB12
|
Location
| 10q22.1
|
Name
|
neurosensory deafness 12 |
Corresponding gene
|
CDH23
|
related resource
| Genetics hearing impairment
|
Main clinical features
|
non syndromic, prelingual, stable, profound |
Genetic determination
| autosomal recessive |
Prevalence
| 3.3 p100 of all DFNB (PMID: 21117948)
|
Function/system disorder
| ear |
Type
| disease
|
Gene mutation | Chromosome rearrangement | Effect | Comments |
|
---|
missense
|  
| unknown
|  
| |
Remark(s)
|
disorder that is caused by defects in tip links (Schwander 2009)
missense mutation leads to progressive tip-link loss and, ultimately, to hair cell death (Schwander 2009) |