| Disease ID | Source | Name | Description |
| 255310 | OMIM | Myopathy, congenital, with fiber-type disproportion (CFTD) | A genetically heterogeneous disorder in which there is relative hypotrophy of type 1 muscle fibers compared to type 2 fibers on skeletal muscle biopsy. However, these findings are not specific and can be found in many different myopathic and neuropathic conditions. The disease is caused by variants affecting the gene represented in this entry. |
| 602771 | OMIM | Rigid spine muscular dystrophy 1 (RSMD1) | A neuromuscular disorder characterized by poor axial muscle strength, scoliosis and neck weakness, and a variable degree of spinal rigidity. Early ventilatory insufficiency can lead to death by respiratory failure. The disease is caused by variants affecting the gene represented in this entry. |