| DISEASE NAME | Joubert syndrome |
| DISEASE CATEGORY (ICD10) | Congenital malformations, deformations and chromosomal abnormalities |
| DISEASE ID (ICD10) | Q04.3 |
| DISEASE ID (OMIM) | 617120; 617121; 618161; 617761; 213300; 610688; 612291; 614173; 614424; 614464; 614615; 614970; 615636; 616490; 616654; 616781; 616784; 617622 |
| 5 combinations linked to 475 | OLI244; OLI245; OLI246; OLI247; OLI640 |
| 4 gene combinations linked to 475 | CEP41; KIF7; CC2D2A; CEP41; KATNIP; KIF7; CEP290; CEP41 |
| ORPHANET ID | 475 |