These included a homozygous splicing variant in TTC8/BBS8 for Bardet–Biedl syndrome (Fam10-1), a heterozygous missense variant in STK11 for Peutz–Jeghers syndrome (Fam22-1), a homozygous missense variant in GAMT for guanidinoacetate methyltransferase deficiency disease (Fam24), and two compound heterozygous variants in UPK3A for congenital nephrotic syndrome (Fam21). This evidence concerns the gene STK11 and Bardet-Biedl syndrome.