Here, we report on a cohort of patients, whose physical findings and biochemical abnormalities in the neonatal period suggested a diagnosis of Smith-Lemli-Opitz syndrome (SLOS) (OMIM# 270400), a multiple congenital anomaly syndrome caused by biallelic DHCR7 variants affecting cholesterol metabolism.2 Here, DHCR7 is linked to Smith-Lemli-Opitz syndrome.