UAP1 and Global developmental delay: Together with the observation in fly models that the Drosophila UAP1 orthologue is required for epithelial morphogenesis and nervous system development [35, 36, 37], the UAP1A229T missense mutation that results in considerable structure shifts that underpin the observed stability and activity changes of AGX1A229T could be a contributory factor to the developmental delay observed in the patient.