* 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 |
| OCRL | Xq26.1 | 300535 | X/A, Fd | Lowe syndrome, 309000 (3) | 309000 | 3 |
| OCRL | Xq26.1 | 300535 | X/A, Fd | Dent disease 2, 300555 (3) | 300555 | 3 |