progeroïde Ehlers-Danlos-syndroom type 1 spEDS-B4GALT7 B4GALT7-gerelateerd spondylodysplastisch EDS
Ehlers-Danlos syndrome progeroid type
B4GALT7-related spondylodysplastic EDS (Ehlers-Danlos syndrome) Galactosyltransferase I deficiency Xylosylprotein 4-beta-galactosyltransferase deficiency Defective biosynthesis of proteodermatan sulfate
A form of Ehlers-Danlos syndrome (EDS) with characteristics of premature ageing with sparse hair, macrocephaly, loose elastic skin, failure to thrive, joint laxity, psychomotor retardation, hypotonia and defective wound healing with atrophic scars.
