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 |
| DNM1L | 12p11.21 | 603850 | R, REc | Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1, 614388 (3) | 614388 | 3 |
| DNM1L | 12p11.21 | 603850 | R, REc | Optic atrophy 5, 610708 (3) | 610708 | 3 |