Smith-Lemli-Opitz Syndrome (SLOS) is a genetic disorder (autosomal recessive) caused by an abnormality in the production of cholesterol.
Alex and Daniel's story: Smith-Lemli-Opitz syndrome (Thank You)
Smith-Lemli-Opitz syndrome is an autosomal recessive multiple congenital malformation and mental retardation syndrome. Although historically a clinical.
Smith Lemli Opitz Syndrome, DHCR7 Gene, Full Gene Analysis, Varies Establishing a molecular diagnosis for patients with Smith-Lemli-Opitz syndrome. Smith-Lemli-Opitz syndrome (SLO) is an autosomal recessive disorder caused by variants in the DHCR7 gene leading to a deficiency of the 7-dehydrocholesterol.
What is Smith-Lemli-Opitz syndrome? Smith-Lemli-Opitz syndrome is an inherited disease characterized by multiple birth defects and intellectual disability. Smith-Lemli-Optiz syndrome is characterized by impaired cholesterol synthesis, which results in congenital abnormalities including a small head, dysmorphic. Smith-Lemli-Opitz syndrome (SLOS) is characterized by multiple congenital anomalies, intellectual deficit, and behavioral problems. ORPHA Classification.