It is debatable if patients with MNF1 should be clinically examined and undergo follow-up in accordance with the standard NF1 guidelines, as patients with MNF1 may more often develop more benign phenotypes and have a much lower risk of developing plexiform neurofibromas and NF1-associated complications such as cognitive impairment and malignancy [5, 8–10]. Here, UQCC2 is linked to plexiform neurofibroma.