|OBO ID: DOID:0112199|
|Term Name:||spondyloepimetaphyseal dysplasia with joint laxity type 2||Search Ontology:|
|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. (2)|
|Ontology:||Human Disease (DOID:0112199)|
|is a type of:||
OTHER spondyloepimetaphyseal dysplasia with joint laxity type 2 PAGES
ZEBRAFISH MODELS No data available
PHENOTYPE No data available
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