Panel | Mode of inheritance | Details |
---|---|---|
6 panels | ||
Component of the following Super Panels:
Signed-off version 4.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Mitochondrial complex IV deficiency, 220110 |
R-numbers: R54 Signed-off version 4.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Mitochondrial complex IV deficiency, 220110, Mitochondrial complex IV deficiency |
Component of the following Super Panels:
R-numbers: R98 Signed-off version 4.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Mitochondrial complex IV deficiency, 220110, Isolated complex IV deficiency, Complex IV Mitochondrial respiratory chain disorders caused by nuclear variants only, OXPHOS assembly factors |
R-numbers: R356 Signed-off version 3.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Mitochondrial complex IV deficiency, 220110 |
Green in Mitochondrial disordersComponent of the following Super Panels:
Signed-off version 4.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Isolated complex IV deficiency, Mitochondrial complex IV deficiency, 220110 |
R-numbers: R63 Signed-off version 3.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Mitochondrial complex IV deficiency, 220110 |