| Disease ID | Source | Name | Description |
| 214300 | OMIM | Klippel-Feil syndrome 2, autosomal recessive (KFS2) | A skeletal disorder characterized by congenital fusion of cervical vertebrae. It is due to a failure in the normal segmentation of vertebrae during the early weeks of fetal development. The clinical triad consists of short neck, low posterior hairline, and limited neck movement. The disease is caused by variants affecting the gene represented in this entry. |