Lastly, detection of rare forms of IRDs notably STX3-associated intestinal-retinal syndrome [103], VPS13B-associated Cohen syndrome [104], and SLC6A6-associated taurine transporter (TauT) deficiency disorders [105] in Pakistani families not only points towards the distinctive genetic nature of this population but it also highlights its potential in medical research. Here, STX3 is linked to respiratory distress syndrome in premature infants.