Term Name:	mitochondrial short-chain enoyl-CoA hydratase 1 deficiency
Synonyms:	ECHS1D
Definition:	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.
Ontology:	Human Disease [DOID:0070540]   ( DOID:0070540 )