In five of these conditions, Gonadal dysgenesis (SRY), Van der Woude syndrome (IRF6), Carney complex type 1 (PRKAR1A), Hereditary pancreatitis (SPINK1), and Thalassaemia-β (HBB), the uORFs substantially reduced translation at the genuine initiation codon and most likely contribute to disease pre-disposition [58]. Here, PRKAR1A is linked to gonadal dysgenesis.