| Disease ID | Source | Name | Description |
| 245349 | OMIM | Pyruvate dehydrogenase E3-binding protein deficiency (PDHXD) | A metabolic disorder characterized by decreased activity of the pyruvate dehydrogenase complex without observable reduction in the activities of enzymes E1, E2, or E3. Clinical features include hypotonia and psychomotor retardation. The disease is caused by variants affecting the gene represented in this entry. |