* Phenotype mapping Key
1 => Disorder placed on map based on association with a gene; defect unknown
2 => Disorder placed by linkage; no mutation found
3 => Molecular basis known; mutation found in gene
4 => Contiguous gene deletion/duplication syndrome
| Gene Symbol | Chromosomal Location | Gene MIM number | Mapping Method | Phenotype | Phenotype MIM number | Phenotype Mapping Key |
| MTM1 | Xq28 | 300415 | Fd, REc | Myotubular myopathy, X-linked, 310400 (3) | 310400 | 3 |