Here, we report another de novo p.Pro869Ser change in the MED13L gene that exhibits ID, speech impairment, severe motor developmental delay, facial deformity, hypotonia, muscular atrophy, hyperlaxity of the joints, scoliosis, odontoprisis, abnormal electroencephalogram (EEG), and congenital ureteropelvic junction obstruction (UPJO) combined with high ureter attachment that has never been reported in MED13L-related syndrome. This evidence concerns the gene MED13L and Global developmental delay.