Rare cases of CDG type 1J due to DPAGT1 mutations have been reported as a severe multisystem disorder with symptoms including intractable seizures, congenital cataracts, mental retardation, and developmental delay with microcephaly [14,15], or with severe foetal hypokinesia with death in infancy or early childhood [16,17]. The gene discussed is DPAGT1; the disease is Global developmental delay.