Panel | Mode of inheritance | Details |
---|---|---|
3 panels | ||
Green in Likely inborn error of metabolismComponent of the following Super Panels:
R-numbers: R98 Signed-off version 6.14 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Usher syndrome, type IV, OMIM:618144, usher syndrome, type 4, MONDO:0029141 |
Green in Lysosomal storage disorderR-numbers: R276 Signed-off version 3.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Usher syndrome, type IV OMIM:618144, usher syndrome, type 4 MONDO:0029141 |
Green in Retinal disordersR-numbers: R32 Signed-off version 6.16 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Usher syndrome, type IV, OMIM:618144 |