| Disease ID | Source | Name | Description |
| 617239 | OMIM | Myasthenic syndrome, congenital, 21, presynaptic (CMS21) | 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 are easy fatigability and muscle weakness. CMS21 is an autosomal recessive, pre-synaptic form characterized by ptosis, ophthalmoplegia, fatigable weakness, apneic crises, and deterioration of symptoms in cold water. Learning difficulties and left ventricular dysfunction may be present in some patients. The disease is caused by variants affecting the gene represented in this entry. |