| Disease ID | Source | Name | Description |
| 610687 | OMIM | Nemaline myopathy 7 (NEM7) | 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. Nemaline myopathy type 7 presents at birth with hypotonia and generalized weakness. Major motor milestones are delayed, but independent ambulation is achieved. The disease is caused by variants affecting the gene represented in this entry. |