spondyloepimetaphyseal dysplasia with multiple dislocations
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.
MONDO:0000426
autosomal dominant disease
is_a
MONDO:0019675
spondyloepimetaphyseal dysplasia with joint laxity
is_a
SEMD-MD
exact
SEMDJL2
exact
spondyloepimetaphyseal dysplasia with JOINT laxity type 2
related
spondyloepimetaphyseal dysplasia with joint laxicity, Hall type
exact
spondyloepimetaphyseal dysplasia with joint laxity type 2
exact
spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type
exact
spondyloepimetaphyseal dysplasia with multiple dislocations Hall type
related
spondyloepimetaphyseal dysplasia with multiple dislocations leptodactylic type
related
spondyloepimetaphyseal dysplasia with multiple dislocations, Hall type
exact
SPBC1604.20c