| Disease ID | Source | Name | Description |
| 266100 | OMIM | Pyridoxine-dependent epilepsy (PDE) | Characterized by a combination of various seizure types. It usually occurs in the first hours of life and is unresponsive to standard anticonvulsants, responding only to immediate administration of pyridoxine hydrochloride. The disease is caused by variants affecting the gene represented in this entry. |