* Phenotype mapping Key
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 |
| SYNJ1 | 21q22.11 | 604297 | A | Parkinson disease 20, early-onset, 615530 (3) | 615530 | 3 |
| SYNJ1 | 21q22.11 | 604297 | A | Epileptic encephalopathy, early infantile, 53, 617389 (3) | 617389 | 3 |