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 | |