Compared to missense variants, alterations in the NAA10 gene which result in a (partial) loss of protein function due to reduced mRNA levels can lead to syndromic microphthalmia/anophthalmia in boys (Esmailpour et al., 2014; Johnston et al., 2019; Shishido et al., 2020). The gene discussed is NAA10; the disease is microphthalmia.