These included (1) compound heterozygous variants in <i>BBS6</i> potentially causative for Bardet-Biedl syn-drome 6; (2) a homozygous, known pathogenic variant in the stereocilin (<i>STRC</i>) gene associated with nonsyndromic deafness; and (3) a homozygous variant in dual oxidase 2 (<i>DUOX2</i>) gene asso-ciated with congenital hypothyroidism. This evidence concerns the gene DUOX2 and congenital hypothyroidism.