| Disease ID | Source | Name | Description |
| 612782 | OMIM | Immunodeficiency 9 (IMD9) | An immune disorder characterized by recurrent infections, impaired activation and proliferative response of T-cells, decreased T-cell production of cytokines, and normal lymphocytes counts and serum immunoglobulin levels. In surviving patients ectodermal dysplasia with anhidrosis and non-progressive myopathy may be observed. The disease is caused by variants affecting the gene represented in this entry. |
| 615883 | OMIM | Myopathy, tubular aggregate, 2 (TAM2) | A rare congenital myopathy characterized by regular arrays of membrane tubules on muscle biopsies without additional histopathological hallmarks. Tubular aggregates in muscle are structures of variable appearance consisting of an outer tubule containing either one or more microtubule-like structures or amorphous material. TAM2 patients have myopathy and pupillary abnormalities. The disease is caused by variants affecting the gene represented in this entry. |