Spondyloepimetaphyseal dysplasia with multiple dislocations
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| Spondyloepimetaphyseal dysplasia with multiple dislocations | 93360, C1863732 | KIF22 | Causal Pathogenic evidence from ClinVar | 22152677, 22152678, 22653704, 25256152 | ClinVar |