| Disease ID | Source | Name | Description |
| 609115 | OMIM | Muscular dystrophy, limb-girdle, autosomal dominant 3 (LGMDD3) | An autosomal dominant degenerative myopathy characterized by slowly progressive wasting and weakness of the proximal muscles of arms and legs around the pelvic or shoulder girdles, elevated creatine kinase levels and dystrophic features on muscle biopsy. LGMDD3 is characterized by a mild late-onset and is associated with progressive fingers and toes flexion limitation. Affected individuals may also develop cataracts before age 50. The disease is caused by variants affecting the gene represented in this entry. |