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Bardet-Biedl syndrome 15
BBS15 is a form of BBS caused by mutation in the WDPCP gene, a planar cell polarity gene (Kim et al., 2010). For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (209900). [from OMIM]
Heart defect - tongue hamartoma - polysyndactyly syndrome
A rare, genetic, multiple congenital anomalies syndrome characterized by congenital heart defects (e.g. coarctation of the aorta with or without atrioventricular canal and subaortic stenosis), associated with tongue hamartomas, postaxial hand polydactyly and toe syndactyly. [from ORDO]
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