Our findings align with the existing literature, which documents only 78 patients with TULP1-associated IRDs from 44 families (Hagstrom et al., 1998; Ullah et al., 2016; Bodenbender et al., 2023; Woodard et al., 2021; den Hollander et al., 2007). Here, TULP1 is linked to respiratory distress syndrome in premature infants.