Panel | Mode of inheritance | Details |
---|---|---|
2 panels | ||
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 4.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 5, OMIM:253700, Autosomal recessive limb-girdle muscular dystrophy type 2C, MONDO:0009677 |
Component of the following Super Panels:
R-numbers: R82 Signed-off version 4.33 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Limb-Girdle Muscular Dystrophy, Recessive, Muscular dystrophy, limb-girdle, type 2C, 253700, Limb-girdle muscular dystrophy |