Panel | Mode of inheritance | Details |
---|---|---|
7 panels | ||
Component of the following Super Panels:
Signed-off version 4.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Combined oxidative phosphorylation deficiency 15 OMIM:614947, combined oxidative phosphorylation defect type 15 MONDO:0013987, Mitochondrial complex I deficiency, nuclear type 27 OMIM:618248, mitochondrial complex 1 deficiency, nuclear type 27 MONDO:0032631 |
R-numbers: R57 Signed-off version 3.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Combined oxidative phosphorylation deficiency 15 OMIM:614947, combined oxidative phosphorylation defect type 15 MONDO:0013987, Mitochondrial complex I deficiency, nuclear type 27 OMIM:618248, mitochondrial complex 1 deficiency, nuclear type 27 MONDO:0032631 |
Component of the following Super Panels:
R-numbers: R29 Signed-off version 5.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Combined oxidative phosphorylation deficiency 15 OMIM:614947, combined oxidative phosphorylation defect type 15 MONDO:0013987, Mitochondrial complex I deficiency, nuclear type 27 OMIM:618248, mitochondrial complex 1 deficiency, nuclear type 27 MONDO:0032631 |
Component of the following Super Panels:
R-numbers: R98 Signed-off version 4.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Combined oxidative phosphorylation deficiency 15 OMIM:614947, combined oxidative phosphorylation defect type 15 MONDO:0013987, Mitochondrial complex I deficiency, nuclear type 27 OMIM:618248, mitochondrial complex 1 deficiency, nuclear type 27 MONDO:0032631 |
Green in Mitochondrial disordersComponent of the following Super Panels:
Signed-off version 4.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Combined oxidative phosphorylation deficiency 15 OMIM:614947, combined oxidative phosphorylation defect type 15 MONDO:0013987, Mitochondrial complex I deficiency, nuclear type 27 OMIM:618248, mitochondrial complex 1 deficiency, nuclear type 27 MONDO:0032631 |
R-numbers: R63 Signed-off version 3.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Combined oxidative phosphorylation deficiency 15 OMIM:614947, combined oxidative phosphorylation defect type 15 MONDO:0013987, Mitochondrial complex I deficiency, nuclear type 27 OMIM:618248, mitochondrial complex 1 deficiency, nuclear type 27 MONDO:0032631 |
Component of the following Super Panels:
Signed-off version 3.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Combined oxidative phosphorylation deficiency 15, 22499348, 614947, 23499752 |