label: spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures
label_lc: spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures
description: "Any spondyloepimetaphyseal dysplasia with joint laxity in which the cause of the disease is a mutation in the B3GALT6 gene."