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Likely inborn error of metabolism - targeted testing not possible v4.9 | ECHS1 | Arina Puzriakova Phenotypes for gene: ECHS1 were changed from Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency to Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency, OMIM:616277 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v0.4 | ECHS1 | Ellen McDonagh Added phenotypes Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency for gene: ECHS1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v0.4 | ECHS1 |
Ellen McDonagh gene: ECHS1 was added gene: ECHS1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: ECHS1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ECHS1 were set to Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency |