BBS2 and Bardet-Biedl syndrome: 2007), and indeed in the one patient who agreed to further evaluation with exome‐wide sequencing, an alternative genetic diagnosis, Bardet–Biedl syndrome (BBS) due to convincing compound heterozygous splice site mutations in BBS2, was established. Such overlap between Alström and Bardet–Biedl syndrome has previously been reported to lead to a significant degree of clinical misclassification of the two disorders (Deveault et al. 2011; Redin et al. 2012).