| Disease ID | Source | Name | Description |
| 611283 | OMIM | Isobutyryl-CoA dehydrogenase deficiency (IBDD) | An autosomal recessive metabolic disorder characterized by plasma carnitine deficiency and elevated C4-acylcarnitine. Patients manifest variable clinical features including failure to thrive, seizures, anemia, muscular hypotonia and developmental delay. Some patients may be asymptomatic. The disease is caused by variants affecting the gene represented in this entry. |