| Disease ID | Source | Name | Description |
| 616852 | OMIM | Myopathy, scapulohumeroperoneal (SHPM) | An autosomal dominant muscular disorder characterized by progressive muscle weakness with initial scapulo-humeral-peroneal and distal distribution. Over time, muscle weakness progresses to proximal muscle groups. Clinical characteristics include scapular winging, mild lower facial weakness, foot drop due to foot eversion and dorsiflexion weakness, and selective muscle atrophy. Age at onset and disease progression are variable. The disease is caused by variants affecting the gene represented in this entry. |
| 161800 | OMIM | Nemaline myopathy 3 (NEM3) | A form of nemaline myopathy. Nemaline myopathies are muscular disorders characterized by muscle weakness of varying severity and onset, and abnormal thread-like or rod-shaped structures in muscle fibers on histologic examination. The disease is caused by variants affecting the gene represented in this entry. |
| 161800 | OMIM | Nemaline myopathy 3 (NEM3) | A form of nemaline myopathy. Nemaline myopathies are muscular disorders characterized by muscle weakness of varying severity and onset, and abnormal thread-like or rod-shaped structures in muscle fibers on histologic examination. The disease is caused by variants affecting the gene represented in this entry. |
| 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. |