BBS2, Bardet-Biedl syndrome 2, 583

N. diseases: 128; N. variants: 60
Disease: Polydactyly ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0152427
Disease: Polydactyly
Polydactyly 		0.420 GeneticVariation disease BEFREE We report 7 patients diagnosed in the neonatal period with hydrometrocolpos and polydactyly who carry mutations in various BBS genes (BBS6, BBS2, BBS10, BBS8 and BBS12), stressing the importance of wide BBS genotyping in patients with this clinical association for diagnosis, prognosis and genetic counselling. 21044901 2011
CUI: C0152427
Disease: Polydactyly
Polydactyly 		0.420 GeneticVariation disease BEFREE Therefore, we decided to sequence the eight BBS genes in a series of 13 antenatal cases presenting with cystic kidneys and polydactyly and/or hepatic fibrosis but no encephalocele. 15666242 2005
CUI: C0152427
Disease: Polydactyly
Polydactyly 		0.420 GeneticVariation disease CLINVAR
CUI: C0152427
Disease: Polydactyly
Polydactyly 		0.420 Biomarker disease GENOMICS_ENGLAND
CUI: C0152427
Disease: Polydactyly
Polydactyly 		0.420 CausalMutation disease CLINVAR