mitochondrial short-chain enoyl-CoA hydratase 1 deficiency

created [InstanceEdit:9916660] Rothfels, Karen, 2024-07-25
databaseName DOID
dbId 9916658
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.
displayName mitochondrial short-chain enoyl-CoA hydratase 1 deficiency
identifier 0070540
name
  • mitochondrial short-chain enoyl-CoA hydratase 1 deficiency
referenceDatabase [ReferenceDatabase:1247631] DOID
schemaClass Disease
synonym
  • ECHS1D
url https://www.ebi.ac.uk/ols4/ontologies/doid/terms?obo_id=DOID:0070540

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