EXT1, exostosin glycosyltransferase 1, 2131

N. diseases: 205; N. variants: 63
Disease: Congenital anomaly of face ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0266617
Disease: Congenital anomaly of face
Congenital anomaly of face 		0.020 Biomarker group BEFREE The pregnancy was terminated, and a malformed fetus was delivered with characteristic craniofacial dysmorphism of LGS/TRPS type II and CDLS4. 26522117 2015
CUI: C0266617
Disease: Congenital anomaly of face
Congenital anomaly of face 		0.020 Biomarker group BEFREE The Langer-Giedion syndrome (tricho-rhino-phalangeal syndrome type II, TRPS II) is characterized by craniofacial dysmorphism and skeletal abnormalities. 7711731 1995