preferred_name: spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures
preferred_name_lc: spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures
label: spondyloepimetaphyseal dysplasia with joint laxity caused by mutation in B3GALT6
label_lc: spondyloepimetaphyseal dysplasia with joint laxity caused by mutation in b3galt6