ABCA4

ATP binding cassette subfamily A member 4
OMIM: 601691
PanelMode of inheritanceDetails
1 panel
R-numbers: R32, R33, R34, R35
Signed-off version 2.195
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Achromatopsia, Cone, and Cone-rod Dystrophy, Macular Dystrophy/Degeneration/Stargardt Disease, Stargardt disease 1, 248200, Macular Degeneration (Dominant), Stargardt Disease, Recessive, Retinitis pigmentosa 19, 601718, Cone-rod dystrophy 3, 604116, Macular degeneration, age-related, 2, 153800, Fundus flavimaculatus, 248200, Retinal dystrophy, early-onset severe, 248200, Retinitis pigmentosa, Retinitis Pigmentosa, Recessive, Stargardt disease 1, 248200Retinitis pigmentosa 19, 601718Cone-rod dystrophy 3, 604116Macular degeneration, age-related, 2, 153800Fundus flavimaculatus, 248200Retinal dystrophy, early-onset severe, 248200, Eye Disorders, Retinitis pigmentosa 19, 601718, Cone-rod dystrophy 3, 604116, Macular degeneration, age-related, 2, 153800, Fundus flavimaculatus, 248200, Retinal dystrophy, early-onset severe, 248200, Macular Degeneration, Stargardt Disease 1, STGD1