Nov 13, 1998 · Smith-Lemli-Opitz syndrome (SLOS) is a congenital multiple-anomaly / cognitive impairment syndrome caused by an abnormality in cholesterol metabolism resulting from …

Smith-Lemli-Opitz syndrome (SLOS) is a rare genetic condition affecting multiple body systems. Signs and symptoms may include characteristic facial features, small head size, growth and …

Jan 11, 2024 · SLOS is a congenital metabolic disorder that follows an autosomal recessive inheritance pattern. The condition is caused by a mutation in the gene that codes for DHCR-7, …

It is an autosomal recessive, multiple malformation syndrome caused by a mutation in the enzyme 7-Dehydrocholesterol reductase encoded by the DHCR7 gene. It causes a broad spectrum of …

Smith-Lemli-Opitz syndrome is caused by mutations in the DHCR7 gene, which provides instructions for making an enzyme called 7-dehydrocholesterol reductase. This enzyme is …

Smith-Lemli-Opitz syndrome (SLOS) is a rare genetic condition caused by the inability of the body to make enough cholesterol to support normal cellular function, growth, and development. …

Nov 17, 2021 · Smith-Lemli-Opitz syndrome (SLOS) is a genetic condition that affects many parts of the body. It is an autosomal recessive genetic condition caused by changes in the DHCR7 …

Smith-Lemli-Opitz syndrome (SLO) is a multiple congenital anomaly disorder caused by defective cholesterol biosynthesis due to deficiency of the enzyme 7-dehydrocholesterol (7-DHC) …

Smith-Lemli-Opitz syndrome (SLOS) is a congenital multiple-anomaly / cognitive impairment syndrome caused by an abnormality in cholesterol metabolism resulting from deficiency of the …

Smith-Lemli-Opitz (SLO) is an autosomal recessive condition, meaning that a person needs two genetic changes in order to be affected. Carriers only have one genetic change and are not …