Term Name:	Ehlers-Danlos syndrome spondylodysplastic type 1
Synonyms:
Definition:	An Ehlers-Danlos syndrome that is characterized by short stature, developmental anomalies of the forearm bones and elbow, and bowing of extremities, in addition to the classic stigmata of Ehlers-Danlos syndrome, including joint laxity, skin hyperextensibility, and poor wound healing and that has_material_basis_in homozygous or compound heterozygous mutation in the B4GALT7 gene on chromosome 5q35.
Ontology:	Human Disease [DOID:0080738]   ( DOID:0080738 )