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 |
| INPP5E | 9q34.3 | 613037 | REc | Mental retardation, truncal obesity, retinal dystrophy, and micropenis, 610156 (3) | 610156 | 3 |
| INPP5E | 9q34.3 | 613037 | REc | Joubert syndrome 1, 213300 (3) | 213300 | 3 |