KIF22 and spondyloepimetaphyseal dysplasia, matrilin-3 type: 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].