has material basis in germline mutation in KIF22 autosomal dominant disease spondyloepimetaphyseal dysplasia with multiple dislocations https://github.com/monarch-initiative/mondo/issues/4948 https://rarediseases.info.nih.gov/diseases/9866/spondyloepimetaphyseal-dysplasia-with-multiple-dislocations https://www.malacards.org/card/spondyloepimetaphyseal_dysplasia_with_joint_laxity_type_2 spondyloepimetaphyseal dysplasia with JOINT laxity type 2 NCIT:C125419 spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type MESH:C535784 Orphanet:93360 spondyloepimetaphyseal dysplasia with joint laxicity, Hall type MEDGEN:350960 UMLS:C1863732 A rare disorder caused by mutation in the KIF22 gene. It is characterized by short stature, midface retrusion, progressive knee malalignment, generalized ligamentous laxity, and mild spinal deformity. spondyloepimetaphyseal dysplasia with joint laxity type 2 SCTID:766820007 GARD:0009866 MONDO:0011335 spondyloepimetaphyseal dysplasia with multiple dislocations leptodactylic type DOID:0112199 SEMDJL2 OMIM:603546 SEMD-MD spondyloepimetaphyseal dysplasia with multiple dislocations, Hall type spondyloepimetaphyseal dysplasia with multiple dislocations Hall type spondyloepimetaphyseal dysplasia with joint laxity