Term Name:	Ehlers-Danlos syndrome spondylodysplastic type 2
Synonyms:	defective biosynthesis of proteodermatan sulfate, Ehlers-Danlos syndrome progeroid type, EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2, XGPT deficiency, xylosylprotein 4-beta-galactosyltransferase deficiency
Definition:	An Ehlers-Danlos syndrome that is characterized by aged appearance, developmental delay, short stature, craniofacial disproportion, generalized osteopenia, defective wound healing, hypermobile joints, hypotonic muscles, and loose but elastic skin and has_material_basis_in compound heterozygous mutation in the B3GALT6 gene.
Ontology:	Human Disease [DOID:0050802]   ( DOID:0050802 )