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Summary Literature (0)
MIM:616277 - MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY; ECHS1D

Xenbase Genes: echs1

Human Disease Resource: MIM

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0014563 - mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency
MONDO:0016815 - obsolete Leigh syndrome with leukodystrophy