SIX6

PanelMode of inheritanceDetails
2 panels
R-numbers: R21, R412
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Optic disc anomalies with retinal and/or macular dystrophy, OMIM:212550, Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome, MONDO:0008927
R-numbers: R36
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Microphthalmia with cataract 2, 212550, Anophthalmia/Microphthalmia, Optic disc anomalies with retinal and/or macular dystrophy, 212550