RS786200938 B3GALT6
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What This Variant Does
"CLNSIG=5
Associated Conditions
Spondyloepimetaphyseal dysplasia with joint laxity
type 1
with or without fractures
Ehlers-Danlos syndrome
spondylodysplastic type
2
B3GALT6-related disorder
Al-Gazali syndrome
Spondyloepimetaphyseal dysplasia with joint laxity
type 1
with or without fractures
Ehlers-Danlos syndrome
spondylodysplastic type
2
Spondyloepimetaphyseal dysplasia with joint laxity
Other Variants in B3GALT6