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GENATLAS PHENOTYPE |
last update : 5/09/2006 |
Symbol | RDH5 |
Location | 12q13-q14 |
Name | fundus albipunctatus, congenital stationary night blindness |
Corresponding gene | RDH5 |
Main clinical features |
|
Genetic determination | autosomal recessive |
autosomal dominant | |
Function/system disorder | eye |
Type | disease |
Gene product |
Name | 11-cis, retinol dehydrogenase (RDH5) |
Mechanism(s) |
Gene mutation | Chromosome rearrangement | Effect | Comments |
| missense
|  
| unknown
|  
| |