| Gene |
Chromosome |
Location |
Syndrome |
| ADCY5 | 3 | q21.1 | ADCY5-related dyskinesia | |
| ALDH5A1 | 6 | p22.3 | Succinic semialdehyde dehydrogenase deficiency | |
| ATP1A3 | 19 | q13.2 | Rapid-onset dystonia parkinsonism | |
| ATP7B | 13 | q14.3 | Wilson disease | |
| CLIP2 | 7 | q11.23 | Williams syndrome | |
| ELN | 7 | q11.23 | 7q11.23 duplication syndrome | |
| FEV | 2 | q35 | Depression anxiety and eating disorders | |
| GTF2I | 7 | q11.23 | 7q11.23 duplication syndrome | |
| GTF2IRD1 | 7 | q11.23 | Williams syndrome | |
| HIVEP2 | 6 | q24.2 | HIVEP2-related intellectual disability | |
| HTR1A | 5 | q12.3 | Periodic fever - menstrual cycle-dependent | |
| LIMK1 | 7 | q11.23 | Williams syndrome | |
| MAN2B1 | 19 | p13.13 | Alpha-mannosidosis | |
| NCF1 | 7 | q11.23 | Williams syndrome | |
| NSD1 | 5 | q35.3 | Sotos syndrome | |
| PRNP | 20 | p13 | Wilson disease | |
| SCARB2 | 4 | q21.1 | Action myoclonus renal failure | |
| SLITRK1 | 13 | q31.1 | Tourette syndrome | |
| SSADHD | 6 | p22.3 | Succinic semialdehyde dehydrogenase deficiency | |
| TH | 11 | p15.5 | Tyrosine hydroxylase deficiency | |
| VPS13A | 9 | q21.2 | Chorea-acanthocytosis | |