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| Undiagnosed metabolic disorders v1.350 | COX8A |
Sarah Leigh gene: COX8A was added gene: COX8A was added to Undiagnosed metabolic disorders. Sources: Literature Mode of inheritance for gene: COX8A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COX8A were set to 26685157 Phenotypes for gene: COX8A were set to ?Mitochondrial complex IV deficiency 220110 Review for gene: COX8A was set to RED Added comment: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 1 variant reported in a 12.5-year old girl, born of Turkish parents who were likely distantly related, with mitochondrial complex I deficiency. The proband died from cardiorespiratory failure associated with infection and metabolic crisis at 12.5 years. No further variants reported to date (30/09/2019). Sources: Literature |
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