has material basis in germline mutation in B3GALT6 Ehlers-Danlos syndrome, spondylodysplastic type Ehlers-Danlos syndrome, spondylodysplastic type, 2 https://github.com/monarch-initiative/mondo/issues/10711 https://github.com/monarch-initiative/mondo/issues/8522 Ehlers-Danlos syndrome, progeroid type, 2 MEDGEN:815540 Orphanet:536467 Ehlers-Danlos syndrome progeroid type caused by mutation in B3GALT6 B3GALT6-related spEDS OMIM:615349 B3GALT6-related spondylodysplastic EDS MONDO:0014139 B3GALT6 Ehlers-Danlos syndrome progeroid type Ehlers-Danlos syndrome, spondylodysplastic type, 2 spEDS-B3GALT6 Ehlers-Danlos syndrome progeroid type 2 A form of spondylodysplastic Ehlers-Danlos syndrome due to variants in B3GALT6 and characterized by short stature, variable degrees of muscle hypotonia, joint hypermobility, especially of the hands, bowing of limbs and congenital or early onset, progressive kyphoscoliosis. Additional features include the typical craniofacial gestalt (prominent forehead, sparse hair, mid-face hypoplasia, blue sclerae, proptosis and abnormal dentition), hyperextensible, soft, thin, translucent and doughy skin, delayed motor and/or cognitive development, characteristic radiographic findings (spondyloepimetaphyseal dysplasia, platyspondyly, anterior beak of vertebral body, short ilia, elbow malalignment and generalized osteoporosis), joint contractures and ascending aortic aneurysm. Beta3GalT6-deficient EDS EDSP2 GARD:0015947 EDSSPD2 UMLS:C3809210 developmental anomaly of metabolic origin B3GALT6-related congenital disorder of glycosylation