Among the seventeen CS patients and eight affected relatives who had at least MRI changes, only eighteen were detected to have pathogenic (or likely pathogenic) variants in MNX1. On the other hand, by comparing patients with complete CS, we could not identify a correlation with the genotype because they all indistinctly carried different mutation types (nonsense, frameshift, splicing and missense mutations). This evidence concerns the gene MNX1 and Cowden syndrome 1.