Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures
Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures
Definition
Any spondyloepimetaphyseal dysplasia with joint laxity in which the cause of the disease is a mutation in the B3GALT6 gene.
Also known as B3GALT6 spondyloepimetaphyseal dysplasia with joint laxity, SEMDJL1, spondyloepimetaphyseal dysplasia with joint laxity caused by mutation in B3GALT6, spondyloepimetaphyseal dysplasia with joint laxity, Beighton type, spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures — per MONDO