| Disease ID | Source | Name | Description |
| 301830 | OMIM | Spinal muscular atrophy X-linked 2 (SMAX2) | A lethal infantile form of spinal muscular atrophy, a neuromuscular disorder characterized by degeneration of the anterior horn cells of the spinal cord, leading to symmetrical muscle weakness and atrophy. Clinical features include hypotonia, areflexia, and multiple congenital contractures. The disease is caused by variants affecting the gene represented in this entry. |