| Disease ID | Source | Name | Description |
| 610090 | OMIM | Pyridoxine-5'-phosphate oxidase deficiency (PNPOD) | The main feature of neonatal epileptic encephalopathy is the onset within hours of birth of a severe seizure disorder that does not respond to anticonvulsant drugs and can be fatal. Seizures can cease with the administration of PLP, being resistant to treatment with pyridoxine,. The disease is caused by variants affecting the gene represented in this entry. |