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
0.010 GeneticVariation group BEFREE The TRIP12 mutation-positive individuals presented with mild to moderate ID (10/11) or learning disability [intelligence quotient (IQ) 76 in one individual], ASD (8/11) and some of them with unspecific craniofacial dysmorphism and other anomalies. 27848077 2017