| Disease ID | Source | Name | Description |
| 616470 | OMIM | Ullrich congenital muscular dystrophy 2 (UCMD2) | A form of Ullrich muscular dystrophy, a congenital myopathy characterized by muscle weakness and multiple joint contractures, generally noted at birth or early infancy. The clinical course is more severe than in Bethlem myopathy. The disease is caused by variants affecting the gene represented in this entry. |
| 616471 | OMIM | Bethlem myopathy 2 (BTHLM2) | A form of Bethlem myopathy, a benign proximal myopathy characterized by early childhood onset and joint contractures most frequently affecting the elbows and ankles. BTHLM2 inheritance is autosomal dominant. The disease is caused by variants affecting the gene represented in this entry. |