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| Likely inborn error of metabolism - targeted testing not possible v2.256 | IDH1 | Sarah Leigh Publications for gene: IDH1 were set to PMID: 33340416 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v2.154 | IDH1 |
Andžela Lazdāne gene: IDH1 was added gene: IDH1 was added to Inborn errors of metabolism. Sources: Literature Mode of inheritance for gene: IDH1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IDH1 were set to PMID: 33340416 Phenotypes for gene: IDH1 were set to Failure to thrive; Psychomotor delay; Feeding difficulties; Increased D-2-Hydroxyglutaric acid in urine Review for gene: IDH1 was set to AMBER Added comment: Isocitrate dehydrogenase 1 deficiency. IEM Nosology Group (IEMbase):Disorders of the Krebs cycle. The IDH1 gene is included in International classification of inherited metabolic disorders (ICIMD), Disorders of the Krebs cycle. Sources: Literature |
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