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| Likely inborn error of metabolism - targeted testing not possible v1.47 | DLD |
Ivone Leong Source NHS GMS was added to DLD. Source London North GLH was added to DLD. |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | DLD |
Ellen McDonagh Added phenotypes Dihydrolipoyl dehydrogenase deficiency (Disorders of pyruvate metabolism); Leigh syndrome; Dihydrolipoamide dehydrogenase deficiency, 246900 for gene: DLD Publications for gene DLD were changed from to 27604308 |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | DLD |
Ellen McDonagh gene: DLD was added gene: DLD was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: DLD was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DLD were set to Leigh syndrome; Dihydrolipoamide dehydrogenase deficiency, 246900 |
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