DO_rare_slim NCIthesaurus has material basis in autosomal recessive disease mitochondrial short-chain enoyl-CoA hydratase 1 deficiency A mitochondrial metabolism disease characterized by a spectrum of phenotypes including delayed psychomotor development, neurodegeneration, increased lactic acid, brain lesions in the basal ganglia, and dystonia that has material basis in homozygous or compound heterozygous mutation in the ECHS1 gene on chromosome 10q26.3. NCI:C174218 DOID:0070540 ORDO:653880 MIM:616277 ORDO:653880 disease_ontology MIM:616277 UMLS_CUI:C4225391 GARD:13019 UMLS_CUI:C4225391 NCI:C174218 ECHS1D GARD:13019 lipid metabolism disorder mitochondrial metabolism disease amino acid metabolic disorder autosomal recessive inheritance