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 |
| EPM2A | 6p22.3 | 608072 | REc, Fd | Epilepsy, progressive myoclonic 2B (Lafora), 254780 (3) | 254780 | 3 |
| EPM2A | 6q24.3 | 607566 | Fd | Epilepsy, progressive myoclonic 2A (Lafora), 254780 (3) | 254780 | 3 |