Panel | Mode of inheritance | Details |
---|---|---|
2 panels | ||
Component of the following Super Panels:
R-numbers: R29 Signed-off version 5.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Methylmalonic aciduria and homocystinuria, cblJ type, 614857, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE, MAHCJ |
Component of the following Super Panels:
R-numbers: R98 Signed-off version 4.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Methylmalonic aciduria and homocystinuria, cblJ type |