| Disease ID | Source | Name | Description |
| 617290 | OMIM | Epilepsy, early-onset, vitamin B6-dependent (EPVB6D) | An autosomal recessive neurologic disorder characterized by seizures responsive to treatment with activated vitamin B6 and/or pyridoxine. Most patients show delayed psychomotor development, mental retardation and learning disability. Seizures onset is in the first days or months of life. The disease is caused by variants affecting the gene represented in this entry. |