RPE65

RPE65, retinoid isomerohydrolase
OMIM: 180069
PanelMode of inheritanceDetails
2 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
LEBER CONGENITAL AMAUROSIS 608553
R-numbers: R32
Signed-off version 3.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Leber congenital amaurosis 2, Retinitis pigmentosa 20, Leber Congenital Amaurosis, Leber congenital amaurosis 2, 204100, Eye Disorders, Retinitis Pigmentosa, Recessive, Retinitis pigmentosa