In turn, the main mutations identified in the Colombianpopulation were related to the following diseases in order of frequency: alpha-1antitrypsin deficiency, congenital adrenal hyperplasia due to 21-OHD,α-thalassemia, CF, SMA type 1 and Stargardt disease type 1. The gene discussed is SMN1; the disease is severe early-childhood-onset retinal dystrophy.