1 => The disorder is placed on the map based on its association with a gene, but the underlying defect is not known
2 => The disorder has been placed on the map by linkage; no mutation has been found
3 => The molecular basis for the disorder is known; a mutation has been found in the gene
4 => A contiguous gene deletion or duplication syndrome, multiple genes are deleted or duplicated causing the phenotype
| 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 |