" /> Spondyloepimetaphyseal Dysplasia with Joint Laxity Type 2 - CISMeF





Preferred Label : Spondyloepimetaphyseal Dysplasia with Joint Laxity Type 2;

NCIt synonyms : SEMDJL2;

CISMeF synonym : short stature, midface retrusion, progressive knee malalignment, generalized ligamentous laxity, and mild spinal deformity;

NCIt definition : 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.;

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31/07/2025


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