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 |
| PNKP | 19q13.33 | 605610 | A | Microcephaly, seizures, and developmental delay, 613402 (3) | 613402 | 3 |
| PNKP | 19q13.33 | 605610 | A | Ataxia-oculomotor apraxia 4, 616267 (3) | 616267 | 3 |