TBL1XR1, TBL1X receptor 1, 79718

N. diseases: 195; N. variants: 16
Disease: Brachydactyly ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		0.010 GeneticVariation disease BEFREE A TBL1XR1 mutation was identified in the patient described in 2009 as contributing to his cognitive impairment and autistic features with no genetic cause identified for his spasticity or brachydactyly. 27133561 2016