* 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 |
| SBF2 | 11p15.4 | 607697 | Fd, REc | Charcot-Marie-Tooth disease, type 4B2, 604563 (3) | 604563 | 3 |