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 |
| CTDP1 | 18q23 | 604927 | Fd, REc | Congenital cataracts, facial dysmorphism, and neuropathy, 604168 (3) | 604168 | 3 |