BBS12, Bardet-Biedl syndrome 12, 166379

N. diseases: 49; N. variants: 43
Disease: Impaired cognition ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		0.110 GeneticVariation disease BEFREE Comparing BBS1 versus chaperonin-like genes phenotypes we found more severe clinical features in the second group, since they displayed higher prevalence of all primary features, remarkable being the frequency of cognitive impairment (75%) in BBS12 and urogenital anomalies (83%) in patients with BBS10. 26082521 2015
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		0.110 Biomarker disease HPO