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 |
| INPP5K | 17p13.3 | 607875 | Psh, A | Muscular dystrophy, congenital, with cataracts and intellectual disability, 617404 (3) | 617404 | 3 |