Panel | Mode of inheritance | Details |
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1 panel | ||
Component of the following Super Panels:
R-numbers: R135 Signed-off version 5.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Isolated complex IV deficiency, Mitochondrial complex IV deficiency, 220110, Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors), syndromic HCM, ?Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 |