Symbol
| USH1D
|
Location
| 10q22.1
|
Name
|
Usher syndrome type ID |
Corresponding gene
|
CDH23
|
related resource
| Genetics hearing impairment
Retinal Information Network
|
Main clinical features
|
characterized by profound congenital neurosensory deafness, constant vestibular dysfunction and retinitis pigmentosa with prepubertal onset, leading to blindness |
Genetic determination
| autosomal recessive |
Function/system disorder
| ear |
| eye |
Type
| disease
|
Gene mutation | Chromosome rearrangement | Effect | Comments |
|
---|
missense
|  
| abnormal protein/loss of function
|  
| nonsense
|  
| absent protein
|  
| abnormal splicing
|  
| abnormal protein/loss of function
|  
| frameshift
| deletion
| abnormal protein/loss of function
|  
| |