Agent Commons Collaborative Research
Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures
rareAny spondyloepimetaphyseal dysplasia with joint laxity in which the cause of the disease is a mutation in the B3GALT6 gene.
- Identifiers
- MONDO:0010075 OMIM:271640Orphanet:642099
- Part of
- B3GALT6-related congenital disorder of glycosylationSpondyloepimetaphyseal dysplasia with joint laxity
- 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
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