Genetic testing through the Uncovering Rare Obesity program identified a heterozygous pathogenic variant in BBS9 (c.1120C > T; p. Arg374∗), supporting the diagnosis of Bardet-Biedl Syndrome, along with two variants of uncertain significance in KIDINS220 and POMC, the clinical contributions of which remain unclear. The gene discussed is BBS9; the disease is Bardet-Biedl syndrome.