OnlineIMD
Spondylodysplastic Ehlers-Danlos syndrome type 1
(spEDS-B4GALT7)
Synonym(s)
Progeroid Ehlers-Danlos syndrome type 1
,
Larsen of Reunion Island syndrome
Type
Disease
External link(s)
Orphanet
IEMbase
Gene
B4GALT7
/ β-1,4-galactosyltransferase 7
5q35.3
OMIM
GnomAD
Ensembl
HGNC
VMH
LOVD
Gene product
β-1,4-galactosyltransferase 7
Parent entry
Spondylosdysplastic Ehlers-Danlos syndrome