RDH5

retinol dehydrogenase 5
OMIM: 601617
PanelMode of inheritanceDetails
1 panel
R-numbers: R32, R33, R34, R35
Signed-off version 2.195
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Achromatopsia, Cone, and Cone-rod Dystrophy, Congenital Stationary Night Blindness, Fundus albipunctatus, 136880, Fundus albipunctatus