| Disease ID | Source | Name | Description |
| 614618 | OMIM | Hyperekplexia 3 (HKPX3) | A neurologic disorder characterized by neonatal hypertonia, an exaggerated startle response to tactile or acoustic stimuli, and life-threatening neonatal apnea episodes. Notably, in some cases, symptoms resolved in the first year of life. The disease is caused by variants affecting the gene represented in this entry. |