| Disease ID | Source | Name | Description |
| 618198 | OMIM | Myasthenic syndrome, congenital, 24, presynaptic (CMS24) | A form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre-synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features include easy fatigability and muscle weakness. CMS24 inheritance is autosomal recessive. The disease may be caused by variants affecting the gene represented in this entry. |