| Metadata | |
|---|---|
| ID | DOID:0112199 |
| Name | spondyloepimetaphyseal dysplasia with joint laxity type 2 |
| 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. https://pubmed.ncbi.nlm.nih.gov/22152677/, https://pubmed.ncbi.nlm.nih.gov/19277648/ |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
SEMD-MD [EXACT] SEMDJL2 [EXACT] spondyloepimetaphyseal dysplasia with joint laxicity, Hall type [EXACT] spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type [EXACT] spondyloepimetaphyseal dysplasia with multiple dislocations, Hall type [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |