Among ribosomopathies, deficiency in diphthamidation of eukaryotic translation elongation factor 2 (EEF2) due to biallelic LoF variants in genes encoding diphthamide synthesis enzymes is causally related to a phenotypic spectrum characterized by developmental delay (DD)/ID, short stature, craniofacial dysmorphisms, and ectodermal anomalies [8]. The gene discussed is EEF2; the disease is Global developmental delay.