Mutations PHGDH, PSPH, and PSAT1 in the serine-glycine pathway have been associated with Neu-Laxova syndrome, which is characterized by a spectrum of phenotypes that vary in expression but usually manifests by perinatal lethality, microcephaly, skeletal, and skin anomalies [37]. The gene discussed is PSAT1; the disease is Neu-Laxova syndrome.