/spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures
spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures
Rare Disease
MONDO:0010075
Also Known As
SEMDJLB3GALT6 spondyloepimetaphyseal dysplasia with joint laxitySEMDJL1spondyloepimetaphyseal dysplasia with joint laxity caused by mutation in B3GALT6spondyloepimetaphyseal dysplasia with joint laxity, Beighton typespondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fracturesspondyloepimetaphyseal 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.
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