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spondyloepimetaphyseal dysplasia with joint laxity type 2
Summary
- Synonym
-
- 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.
- Super Class
- autosomal dominant disease spondyloepimetaphyseal dysplasia with joint laxity
External Links
- Disease Ontology
- DOID:0112199
- Mondo Disease Ontology
- ORDO
- OMIM
