| Syndrome |
Gene |
Chromosome |
Location |
Category |
| Jacobsen syndrome | ARHGAP32 | 11 | q24.3 | Autism spectrum | |
| Jacobsen syndrome | ETS1 | 11 | q23.3 | Autism spectrum | |
| Jacobsen syndrome | FLI1 | 11 | q24.1-24.3 | Autism spectrum | |
| JANSEN-DE VRIES SYNDROME | JDVS | 17 | q23.2 | Autism spectrum | |
| JEB Junctional epidermolysis bullosa | COL17A1 | 10 | q25.1 | Alopecia | |
| JEB Junctional epidermolysis bullosa | LAMA3 | 18 | q11.2 | Alopecia | |
| JEB Junctional epidermolysis bullosa | LAMB3 | 1 | q32.2 | Alopecia | |
| JEB Junctional epidermolysis bullosa | LAMC2 | 1 | q25.3 | Alopecia | |
| Joubert syndrome | CEP104 | 1 | p36.32 | Autism spectrum | |
| Joubert syndrome | CEP41 | 7 | q32 | Autism spectrum | |
| JOUBERT SYNDROME 1 | JBTS1 | 9 | q34.3 | Autism spectrum | |
| JUMONJI DOMAIN-CONTAINING PROTEIN 1C | JMJD1C | 10 | q21.3 | Autism spectrum | |
| Juvenile myoclonic epilepsy | CACNB4 | 2 | q23.3 | Epilepsy and seizures | |
| Juvenile myoclonic epilepsy | CLCN2 | 3 | q27.1 | Epilepsy and seizures | |
| Juvenile myoclonic epilepsy | EFHC1 | 6 | p12.2 | Epilepsy and seizures | |
| Juvenile myoclonic epilepsy | GABRA1 | 5 | q34 | Epilepsy and seizures | |
| Juvenile-onset progressive cataracts | BFSP2 | 3 | q22.1 | Cataracts | |