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| Pyruvate dehydrogenase (PDH) deficiency v1.6 | DLD | Sarah Leigh Phenotypes for gene: DLD were changed from DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY, 246900 to DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY OMIM:246900; pyruvate dehydrogenase E3 deficiency MONDO:0009529 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pyruvate dehydrogenase (PDH) deficiency v0.3 | DLD | Ivone Leong reviewed gene: DLD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY, 246900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pyruvate dehydrogenase (PDH) deficiency v0.2 | DLD |
Ivone Leong gene: DLD was added gene: DLD was added to Pyruvate dehydrogenase (PDH) deficiency. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: DLD was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DLD were set to DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY, 246900 |
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