Ehlers-Danlos syndrome, spondylodysplastic type, 2
Ehlers-Danlos syndrome, spondylodysplastic type, 2
Definition
Any Ehlers-Danlos syndrome, spondylodysplastic type in which the cause of the disease is a mutation in the B3GALT6 gene.
Also known as B3GALT6 Ehlers-Danlos syndrome progeroid type, B3GALT6-related spEDS, B3GALT6-related spondylodysplastic EDS, Beta3GalT6-deficient EDS, EDSP2, EDSSPD2, Ehlers-Danlos syndrome progeroid type 2, Ehlers-Danlos syndrome progeroid type caused by mutation in B3GALT6, Ehlers-Danlos syndrome, progeroid type, 2, Ehlers-Danlos syndrome, spondylodysplastic type, 2, spEDS-B3GALT6 — per MONDO