| DISEASE NAME | Isolated Klippel-Feil syndrome |
| DISEASE CATEGORY (ICD10) | Congenital malformations, deformations and chromosomal abnormalities |
| DISEASE ID (ICD10) | Q76.1 |
| DISEASE ID (OMIM) | 118100; 214300; 613702 |
| 7 combinations linked to 2345 | OLI336; OLI337; OLI338; OLI339; OLI340; OLI341; OLI342 |
| 7 gene combinations linked to 2345 | BAZ1B; GRIP1; SUFU; TBX6; MYO18B; SUFU; WNT7A; FUZ; MAP3K7; POR; CHD7; FRAS1; BAZ1B; COG1; ANKRD11; HOXD13; MYO18B; FREM2; MYO18B |
| ORPHANET ID | 2345 |