Version: 8.0.0Date: Tue Jan 28 2025
Disease
Source: DOID:0112199
Definition: A spondyloepimetaphyseal dysplasia with joint laxity characterized by short stature, distinctive midface retrusion, progressive knee malalignment, generalized ligamentous laxity, multiple joint dislocations, and mild spinal deformity that has_material_basis_in heterozygous mutation in KIF22 on chromosome 16p11.2.
Genes: kif22 (Xtr)...KIF22 (Hsa)...Kif22 (Rno)...Kif22 (Mmu)...kif22 (Dre)