The finding of a homozygous c.167A>C p.(Lys56Thr) “warm” VUS in IFT172 suggested short-rib thoracic dysplasia 10 (SRTD10, OMIM #615630) or Bardet-Biedl syndrome 20 (OMIM #619471). Here, IFT172 is linked to Bardet-Biedl syndrome.