Heterozygous mutations in the KIF22 gene could cause spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL), which is an autosomal-recessive skeletal dysplasia characterized by short stature, generalized joint laxity, slender hands, limb malalignment, and spinal deformity [50, 51]. Here, KIF22 is linked to spondyloepimetaphyseal dysplasia with joint laxity.