Case 1101: Decreased expression of the B4GALT2 gene (UDP-GAL: beta-GlcNac beta-1,4-galactosyltransferase, polypeptide 2) gene was found in blood isolated from a male with profound global developmental delay, spastic quadriplegia and acute rhabdomyolysis (z-score: −3.40, FC: 0.45, p value: 8.30e−4) (Fig. 3A). The gene discussed is B4GALT2; the disease is Global developmental delay.