| Disease ID | Source | Name | Description |
| 605637 | OMIM | Myopathy, proximal, with ophthalmoplegia (MYPOP) | A muscular disorder characterized by mild-to-moderate muscle weakness, ophthalmoplegia, and contractures at birth in some patients. Muscle biopsies from patients show predominance of type 1 fibers and small or absent type 2A fibers. The disease is non-progressive or it progresses very slowly. Inheritance is autosomal dominant or recessive. The disease is caused by variants affecting the gene represented in this entry. |