Although there are no significant differences in phenotype severity reported between truncating and missense NF1 variants in the literature as well as the current cohort, a study on NF1 missense variants (Koczkowska et al., 2020) showed that some patients with these variants exhibited some Noonan syndrome phenotypes such as pulmonic stenosis, cardiovascular abnormalities, short stature and macrocephaly. Here, NF1 is linked to Noonan syndrome.