| Disease ID | Source | Name | Description |
| 615356 | OMIM | Muscular dystrophy, limb-girdle, autosomal recessive 18 (LGMDR18) | A form of limb-girdle muscular dystrophy characterized by proximal muscle weakness with childhood onset, resulting in gait abnormalities and scapular winging. Serum creatine kinase is increased. A subset of patients may show a hyperkinetic movement disorder with chorea, ataxia, or dystonia and global developmental delay. The disease is caused by variants affecting the gene represented in this entry. |