| Disease ID | Source | Name | Description |
| 618011 | OMIM | Hyperekplexia 4 (HKPX4) | An autosomal recessive severe neurologic disorder apparent from birth. HKPX4 is characterized by little if any development, hypertonia, early-onset refractory seizures in some patients, and respiratory failure resulting in early death, mostly in the first months of life. The disease is caused by variants affecting the gene represented in this entry. |