has material basis in germline mutation in B4GALT7 Ehlers-Danlos syndrome, spondylodysplastic type Ehlers-Danlos syndrome, spondylodysplastic type, 1 https://github.com/monarch-initiative/mondo/issues/10121 https://github.com/monarch-initiative/mondo/issues/4025 https://github.com/monarch-initiative/mondo/issues/4948 PDS dermatan sulphate proteoglycan Ehlers-Danlos syndrome, progeroid type 1 EDS progeroid type 1 B4GALT7-related spondylodysplastic EDS GARD:0025209 XGPT deficiency MONDO:0020682 A form of spondylodysplastic Ehlers-Danlos syndrome due to variants in B4GALT7 and characterized by short stature, variable degrees of muscle hypotonia, joint hypermobility, especially of the hands, and bowing of limbs. Additional features include the typical craniofacial gestalt (mid-face hypoplasia, round, flat face, proptosis and narrow mouth), hyperextensible skin that is soft, thin, translucent and doughy, delayed motor and/or cognitive development, characteristic radiographic findings (such as radio-ulnar synostosis, radial head subluxation or dislocation, metaphyseal flaring and osteopenia) and ocular abnormalities. spEDS-B4GALT7 EDSSPD1 dermatan sulfate proteoglycan B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome EDS with short stature and limb anomalies DOID:0080738 galactosyltransferase 1 deficiency proteodermatan sulfate, defective biosynthesis of UMLS:C4552003 MEDGEN:1646889 Ehlers-Danlos syndrome, spondylodysplastic type, 1 Orphanet:75496 defective biosynthesis of proteodermatan sulphate PDS, defective biosynthesis of Ehlers-Danlos syndrome with Short stature and Limb anomalies OMIM:130070 xylosylprotein 4-Beta-galactosyltransferase deficiency osteogenesis imperfecta and a reduction of bone mineral density.