| Disease ID | Source | Name | Description |
| 618197 | OMIM | Myasthenic syndrome, congenital, 23, presynaptic (CMS23) | 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. CMS23 inheritance is autosomal recessive. The disease is caused by variants affecting the gene represented in this entry. |
| 615182 | OMIM | Combined D-2- and L-2-hydroxyglutaric aciduria (D2L2AD) | An autosomal recessive neurometabolic disorder characterized by neonatal-onset encephalopathy with severe muscular weakness, intractable seizures, respiratory distress, and lack of psychomotor development resulting in early death. Brain imaging shows abnormalities including enlarged ventricles, delayed myelination, and germinal layer cysts. The disease is caused by variants affecting the gene represented in this entry. |