Panel | Mode of inheritance | Details |
---|---|---|
4 panels | ||
Green in DDG2PComponent of the following Super Panels:
Signed-off version 5.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes CONE-ROD DYSTROPHY 16 614500 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 5.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes CONE-ROD DYSTROPHY 16 |
Green in Ophthalmological ciliopathiesComponent of the following Super Panels:
Signed-off version 4.5 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Bardet-Biedl syndrome 21, OMIM:617406, MONDO:0044308, Cone-rod dystrophy 16, OMIM:614500, MONDO:0013786, Retinitis pigmentosa 64, OMIM:614500, MONDO:0019200 |
Green in Retinal disordersR-numbers: R32 Signed-off version 7.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Bardet-Biedl syndrome 21, OMIM:617406, MONDO:0044308, Cone-rod dystrophy 16, OMIM:614500, MONDO:0013786, Retinitis pigmentosa 64, OMIM:614500, MONDO:0019200 |