Symbol
| USH1F
|
Location
| 10q21.1
|
Name
|
Usher syndrome type 1F |
Corresponding gene
|
PCDH15
|
related resource
| Genetics hearing impairment
Retinal Information Network
|
Main clinical features
|
characterized by profound congenital neurosensory deafness, constant vestibular dysfunction and retinitis pigmentosa of prepubertal onset, leading to blindness |
Genetic determination
| autosomal recessive |
Function/system disorder
| ear |
| eye |
Type
| disease
|
Gene mutation | Chromosome rearrangement | Effect | Comments |
|
---|
deletion
|  
| abnormal protein/loss of function
|  
| deletion
|  
| abnormal protein/loss of function
| deletion of 55 kb
| duplication
|  
| abnormal protein/loss of function
| duplication of 82 kb
| |