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| Likely inborn error of metabolism - targeted testing not possible v0.4 | ELAC2 | Ellen McDonagh Added phenotypes infantile hypertrophic cardiomyopathy, lactic acidosis, and isolated complex I deficiency; Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Combined oxidative phosphorylation deficiency 17, 615440 for gene: ELAC2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v0.4 | ELAC2 |
Ellen McDonagh gene: ELAC2 was added gene: ELAC2 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: ELAC2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ELAC2 were set to infantile hypertrophic cardiomyopathy, lactic acidosis, and isolated complex I deficiency; Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Combined oxidative phosphorylation deficiency 17, 615440 |
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