The phenotype in females with NAA10‐related N‐terminal‐acetyltransferase deficiency is among others characterized by moderate to severe developmental delay and ID with no or very limited speech, postnatal growth failure, microcephaly, seizures, different skeletal, brain, and organ anomalies and cardiac arrhythmias (see Table 2) (Bader et al., 2020; Cheng et al., 2020; McTiernan et al., 2018; Popp et al., 2015; Saunier et al., 2016; Sidhu et al., 2017; Thevenon et al., 2016). This evidence concerns the gene NAA10 and hyperinsulinemic hypoglycemia, familial, 4.