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Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>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 responsible for the final step in the production of cholesterol. Cholesterol is a waxy, fat-like substance that is produced in the body and obtained from foods that come from animals (particularly egg yolks, meat, poultry, fish, and dairy products). Cholesterol is necessary for normal embryonic development and has important functions both before and after birth. It is a structural component of cell membranes and the protective substance covering nerve cells (myelin). Additionally, cholesterol plays a role in the production of certain hormones and digestive acids.</p><p>Mutations in the DHCR7 gene reduce or eliminate the activity of 7-dehydrocholesterol reductase, preventing cells from producing enough cholesterol. A lack of this enzyme also allows toxic byproducts of cholesterol production to build up in the blood, nervous system, and other tissues. The combination of low cholesterol levels and an accumulation of other substances likely disrupts the growth and development of many body systems. It is not completely understood, however, how either abnormality leads to the specific features of Smith-Lemli-Opitz syndrome.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/smith-lemli-opitz-syndrome/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes Smith-Lemli-Opitz syndrome?"},{"bodyHtml":"<p>The signs and symptoms of Smith-Lemli-Opitz syndrome vary widely. Mildly affected individuals may have only minor physical abnormalities with learning and behavioral problems. Severe cases can be life-threatening and involve profound intellectual disability and major physical abnormalities.</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/smith-lemli-opitz-syndrome\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"smith-lemli-opitz-syndrome","sourceDocuments":[{"name":"Smith-Lemli-Opitz syndrome","reviewed":"2007-07","sections":{"causes":{"fetchedAt":"2026-10-20T20:25:04.278784+00:00","label":"Causes","pageSha256":"a863973881814f4fa2b7640cdec6957e075c9bd8753cbced3c53bcfcca810f4c","sourceUrl":"https://medlineplus.gov/genetics/condition/smith-lemli-opitz-syndrome/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/smith-lemli-opitz-syndrome"}],"sourceNote":"MedlinePlus descriptions and Causes; original HPO annotations.","takeawayHtml":"Cause explanations are from MedlinePlus Genetics. Feature values below retain their original sources and patient groups.","title":"Smith-Lemli-Opitz syndrome"},"schemaVersion":1}