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. Here, SMN1 is linked to classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency.