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| Likely inborn error of metabolism - targeted testing not possible v2.110 | FBXL4 | Sarah Leigh Added comment: Comment on phenotypes: fatal encephalopathy, lactic acidosis, and severe MTDNA depletion in muscle.;Disorders of mitochondrial DNA maintenance and integrity | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v2.110 | FBXL4 | Sarah Leigh Phenotypes for gene: FBXL4 were changed from fatal encephalopathy, lactic acidosis, and severe MTDNA depletion in muscle.; Disorders of mitochondrial DNA maintenance and integrity; Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type), 615471 to Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) OMIM:615471; mitochondrial DNA depletion syndrome 13 MONDO:0014198 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v0.4 | FBXL4 | Ellen McDonagh Added phenotypes fatal encephalopathy, lactic acidosis, and severe MTDNA depletion in muscle.; Disorders of mitochondrial DNA maintenance and integrity; Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type), 615471 for gene: FBXL4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v0.4 | FBXL4 |
Ellen McDonagh gene: FBXL4 was added gene: FBXL4 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: FBXL4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FBXL4 were set to fatal encephalopathy, lactic acidosis, and severe MTDNA depletion in muscle.; Disorders of mitochondrial DNA maintenance and integrity; Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type), 615471 |
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