PROM1

PanelMode of inheritanceDetails
1 panel
R-numbers: R32
Signed-off version 5.4
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Achromatopsia, Cone, and Cone-rod Dystrophy, Cone - rod dystrophy 12, Macular dystrophy, retinal, 2, Retinitis pigmentosa 41, Stargardt disease 4, Retinal Macular Dystrophy, Retinitis pigmentosa 41, 612095, Cone-rod dystrophy 12, 612657, Stargardt disease 4, 603786, Macular dystrophy, retinal, 2, 608051, Stargardt Disease, Dominant, Macular Dystrophy/Degeneration/Stargardt Disease, Eye Disorders, Retinitis pigmentosa, Retinitis Pigmentosa, Recessive, Cone-Rod Dystrophy, Dominant, Retinitis pigmentosa 41, 612095