| Disease ID | Source | Name | Description |
| 250620 | OMIM | 3-hydroxyisobutryl-CoA hydrolase deficiency (HIBCHD) | An autosomal recessive inborn error of valine metabolism. It causes severely delayed psychomotor development, neurodegeneration, increased lactic acid, and brain lesions in the basal ganglia. The disease is caused by variants affecting the gene represented in this entry. |