| Syndrome |
Gene |
Chromosome |
Location |
Category |
| 1p36 monosomy | many | 1 | p36 | Autism spectrum | |
| 1q21.1 bradycardia | GJA5 | 1 | q21.1 | Bradycardia (<60 beats/minute) | |
| 2-hydroxyglutaric aciduria | D2HGDH | 2 | q37.3 | Ataxia spectrum | |
| 2-hydroxyglutaric aciduria | IDH2 | 15 | q26.1 | Ataxia spectrum | |
| 2-hydroxyglutaric aciduria | L2HGDH | 14 | q21.3 | Ataxia spectrum | |
| 2-hydroxyglutaric aciduria | SLC25A1 | 22 | q11.21 | Ataxia spectrum | |
| 3-hydroxy-3-methylglutaryl-CoA lyase deficiency | HMGCL | 1 | p36.11 | Reye`s Syndrome-like diseases | |
| 3-hydroxyacyl-CoA dehydrogenase deficiency | HADH | 4 | q25 | Reye`s Syndrome-like diseases | |
| 3-methylcrotonyl-CoA carboxylase deficiency | MCCC1 | 3 | q27.1 | Reye`s Syndrome-like diseases | |
| 3-methylcrotonyl-CoA carboxylase deficiency | MCCC2 | 5 | q13.2 | Reye`s Syndrome-like diseases | |
| 3-methylglutaconyl-CoA hydratase deficiency | AUH | 9 | q22.31 | Ataxia spectrum | |
| 3p deletion syndrome | CNTN4 | 3 | p26.3 | Autism spectrum | |
| 3q29 microdeletion syndrome | DLG1 | 3 | q29 | Autism spectrum | |
| 3q29 microdeletion syndrome | DLG3 | 3 | q29 | Autism spectrum | |
| 3q29 microdeletion syndrome | PAK2 | 3 | q29 | Autism spectrum | |
| 3q29 microdeletion syndrome | PAK3 | 3 | q29 | Autism spectrum | |
| 5-HYDROXYTRYPTAMINE RECEPTOR 7 | HTR7 | 10 | q23.31 | Autism spectrum | |
| 6q24-related transient neonatal diabetes mellitus | HYMAI | 6 | q24.2 | Diabetes | |
| 6q24-related transient neonatal diabetes mellitus | PLAGL1 | 6 | q24.2 | Diabetes | |
| 6q24-related transient neonatal diabetes mellitus | ZFP57 | 6 | p22.1 | Diabetes | |
| 7q11.23 duplication syndrome | ELN | 7 | q11.23 | Panic phobia anxiety | |
| 7q11.23 duplication syndrome | GTF2I | 7 | q11.23 | Panic phobia anxiety | |
| 15q13.3 microdeletion syndrome | CHRNA7 | 15 | q13.3 | Autism spectrum | |
| 15q13.3 microdeletion syndrome | up to 6 | 15 | q13.3 | Autism spectrum | |
| 17q12 deletion syndrome | HNF1B | 17 | q12 | Diabetes | |
| 17q12 deletion syndrome | LHX1 | 17 | q12 | Diabetes | |
| 46 XY SEX REVERSAL 9 | SRXY9 | 8 | q23.1 | Autism spectrum | |
| 47 XYY | extra Y | 23 | Y | Autism spectrum | |
| 48 XXYY | All X Y | 23 | X and Y | Autism spectrum | |