| Disease ID | Source | Name | Description |
| 239510 | OMIM | Hyperprolinemia 2 (HYRPRO2) | An inborn error of proline metabolism resulting in elevated plasma levels of proline and delta-1-pyrroline-5-carboxylate (P5C). The condition is considered to be benign, but affected individuals can exhibit neurological manifestations that vary in severity. Clinical signs include seizures, intellectual deficit and mild developmental delay. The disease is caused by variants affecting the gene represented in this entry. |