Mitochondrial Short-Chain Enoyl-CoA Hydratase-1 Deficiency

**Semantic type:** Disease or Syndrome

**Definition:** 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.

**Synonyms:** - ECHS1