Ehlers-Danlos syndrome spondylodysplastic type 2
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.
Exact Synonyms
Ehlers-Danlos syndrome progeroid type
EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2
Related Synonyms
defective biosynthesis of proteodermatan sulfate
XGPT deficiency
xylosylprotein 4-beta-galactosyltransferase deficiency
class Information
created_by
lschriml
creation_date
2013-12-02T11:55:24Z
has_dbxref
has_obo_namespace
disease_ontology
in_subset