ATP5F1A and multiple congenital anomalies-neurodevelopmental syndrome, X-linked: Specifically, the heterozygous c.620G>A (p.Arg207His) substitution, which has been recurrently identified in patients with an autosomal dominant ATP5F1A‐linked syndrome (Table S1), was demonstrated to lead to decreased ATP5F1A subunit protein levels on immunoblot studies,10 a result comparable with the outcome of our evaluation shown in Figure 3.