Panel | Mode of inheritance | Details |
---|---|---|
4 panels | ||
R-numbers: R57 Signed-off version 3.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Combined oxidative phosphorylation deficiency 21, OMIM:615918 |
Component of the following Super Panels:
R-numbers: R98 Signed-off version 4.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Combined oxidative phosphorylation deficiency 21, OMIM:615918 |
Green in Mitochondrial disordersComponent of the following Super Panels:
Signed-off version 4.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Combined oxidative phosphorylation deficiency 21, OMIM:615918, MONDO:0014398 |
R-numbers: R63 Signed-off version 3.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Combined oxidative phosphorylation deficiency 21, OMIM:615918 |