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 |
| PAK1 | 11q13.5-q14.1 | 602590 | REc | NA | NA | NA |
| PAK1 | 19p13.12 | 601032 | R, A | NA | NA | NA |