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| Mitochondrial disorder with complex IV deficiency v0.3 | SURF1 | Ivone Leong reviewed gene: SURF1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Leigh syndrome, due to COX IV deficiency, 256000, Charcot-Marie-Tooth disease, type 4K, 616684; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorder with complex IV deficiency v0.2 | SURF1 |
Ivone Leong gene: SURF1 was added gene: SURF1 was added to Mitochondrial disorder with complex IV deficiency. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: SURF1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SURF1 were set to Charcot-Marie-Tooth disease, type 4K, 616684; Leigh syndrome, due to COX IV deficiency, 256000 |
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