WDR81 and macroglossia: Cappuccio and colleagues reported a patient with two in trans nonsense alleles (c.3693G>A, p. Trp1231*, c.5464C>T, p. Arg1822*) in WDR81, the patient presented cerebral manifestations (corpus callosum, enlarged third ventricle, cerebellar hypoplasia and extremely thin frontal lobes) and facial dysmorphism (ocular proptosis, thin upper lip, bulbous nose, mid‐face hypoplasia, and macroglossia) (Cappuccio et al., 2017).