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A variant form of Ehlers-Danlos syndrome characterized by short stature, skin hyperextensibility, moderate skin fragility, joint hypermobility principally in digits, developmental anomalies of the forearm bones and elbow, and bowing of extremities.




Defective biosynthesis of PDS
Defective biosynthesis of proteodermatan sulfate
Ehlers-Danlos syndrome, progeroid type, 1
Galactosyltransferase I deficiency
XGPT deficiency
Xylosylprotein 4-beta-galactosyltransferase deficiency


Ehlers-Danlos syndrome


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