TBL1XR1, TBL1X receptor 1, 79718

N. diseases: 195; N. variants: 16
Disease: Dysmorphism ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1737329
Disease: Dysmorphism
Dysmorphism 		0.010 GeneticVariation disease BEFREE Our findings suggest that TBL1XR1 haploinsufficiency can cause intellectual disability with a recognizable dysmorphism, without necessarily causing autistic behavior. 25425123 2015