Spondylodysplastic Ehlers-Danlos syndrome type 2

(spEDS-B3GALT6)

Type

Disease
External link(s)
- Orphanet
- IEMbase
Gene
- B3GALT6 / beta-1,3-galactosyltransferase 6
  1p36.33
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Beta-1,3-galactosyltransferase 6
Parent entry
- Spondylosdysplastic Ehlers-Danlos syndrome
Child entries
- Spondyloepimetaphyseal dysplasia with joint laxity type 1