Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures

MONDO:0010075

Any spondyloepimetaphyseal dysplasia with joint laxity in which the cause of the disease is a mutation in the B3GALT6 gene.

Also known as: SEMDJL, 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, spondyloepimetaphyseal dysplasia with JOINT laxity, type 1, with or without fractures

0 clinical trials for this condition and its sub-types, 0 tagged with Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures itself.

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↑ B3GALT6-congenital disorder of glycosylation (0) ↑ Spondyloepimetaphyseal dysplasia with joint laxity (0)

Including sub-types (0) Tagged with Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures (0)

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