Term Name:	spondyloepimetaphyseal dysplasia with joint laxity type 2
Synonyms:	SEMD-MD, SEMDJL2, spondyloepimetaphyseal dysplasia with joint laxicity, Hall type, spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type, spondyloepimetaphyseal dysplasia with multiple dislocations, Hall type
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.
Ontology:	Human Disease [DOID:0112199]   ( DOID:0112199 )