BBS1 and Bardet-Biedl syndrome: Since BBS best fits the proband's phenotype, a CNV analysis was performed for BBS1 (for which a heterozygous missense mutation was previously identified; Met390Arg), and for two other ciliopathy‐related genes (for which heterozygous variants were also identified in the proband's WGS filtering (Supporting information Figure S2): NPHP4 (NM_015102:exon26:c.3644+1G>C), CEP78 (NM_032171:exon15:c.1801–1G>C)).