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 |
| 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 |