| Disease ID | Source | Name | Description |
| 616277 | OMIM | Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency (ECHS1D) | A severe, autosomal recessive inborn error affecting valine metabolism. Disease features include brain lesions in the basal ganglia, neurodegeneration, delayed psychomotor development, hypotonia, spasticity, and increased lactic acid in serum and cerebral serum fluid. The disease is caused by variants affecting the gene represented in this entry. |