Mutations in the KIF22 gene have so far not been associated with neurodevelopmental disorders but result in a syndrome called spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL; OMIM #603213), with malformations of the spine, skeletal dysplasia and malalignment of limbs but no intellectual impairment. Here, KIF22 is linked to spondyloepimetaphyseal dysplasia, matrilin-3 type.