Panel | Mode of inheritance | Details |
---|---|---|
3 panels | ||
Component of the following Super Panels:
R-numbers: R98 Signed-off version 4.78 | 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 3.5 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes ?Mitochondrial complex IV deficiency, 220110 |
R-numbers: R63 Signed-off version 3.69 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes ?Mitochondrial complex IV deficiency, 220110 |