UGDH and Global developmental delay: Though mutations in the UGDH protein have been described as causing developmental delay in various model organisms, to our knowledge, this is the first identification of the novel homozygous missense variant in exon8 of <i>UGDH</i> NM_003359.3: c.950 G>A (p.Arg317Gln) and most likely the cause of the patient's phenotype.