BBS1 and Bardet-Biedl syndrome: From the WES data, we analyzed all causal genes for BBS, but did not find any clinically relevant variants in those genes except for the c.1339 G > A variant in BBS1. Patient 3 meets the major clinical features of BBS with regard to hypothyroidism, polydactyly, obesity, strabismus, impaired intelligence in comparison to peers, and language delay.