label: Mitochondrial Short-Chain Enoyl-CoA Hydratase-1 Deficiency
label_lc: mitochondrial short-chain enoyl-coa hydratase-1 deficiency
description: An autosomal recessive condition caused by mutation(s) in the ECHS1 gene, encoding enoyl-CoA hydratase, mitochondrial. The condition represents a clinical spectrum in which there are multiple phenotypes.