TBL1XR1, TBL1X receptor 1, 79718

N. diseases: 195; N. variants: 16
Disease: Congenital Abnormality ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.020 GeneticVariation group BEFREE Deletions of the TBL1XR1 gene have been described in two families to date, both presenting intellectual disability and dysmorphisms. 29038029 2018
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.020 GeneticVariation group BEFREE Our findings suggest that TBL1XR1 haploinsufficiency can cause intellectual disability with a recognizable dysmorphism, without necessarily causing autistic behavior. 25425123 2015