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Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>Genetic changes that cause disease are called pathogenic variants. Pathogenic variants in the MED12 gene can cause Lujan syndrome. The MED12 gene provides instructions for making a protein that helps regulate gene activity and is involved in many aspects of early development. Most of the pathogenic variants in the MED12 gene that are associated with Lujan syndrome change a single protein building block (amino acid) in the MED12 protein. This genetic change likely alters the structure and function of the MED12 protein. However, it is unclear exactly how these changes lead to the intellectual disabilities and specific physical features seen in people with Lujan syndrome.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/lujan-syndrome/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes Lujan syndrome?"},{"bodyHtml":"<p>The intellectual disability associated with Lujan syndrome is usually mild to moderate. Behavioral problems can include hyperactivity, aggressiveness, extreme shyness, and excessive attention-seeking. Some affected individuals have features of autism or related developmental disorders affecting communication and social interaction. A few have been diagnosed with psychiatric problems such as delusions and hallucinations.</p><p>Characteristic physical features of Lujan syndrome include a tall, thin body and an unusually large head (macrocephaly). Affected individuals also have a long, thin face with distinctive facial features such as a prominent top of the nose (high nasal root); a short space between the nose and the upper lip (philtrum); a narrow roof of the mouth (palate); crowded teeth; and a small chin (micrognathia). Almost all people with this condition have weak muscle tone (hypotonia).</p><p>Additional signs and symptoms of Lujan syndrome can include abnormal speech, heart defects, and abnormalities of the genitourinary system. Many affected individuals have long fingers and toes with an unusually large range of joint movement (hyperextensibility). Seizures and abnormalities of the tissue that connects the left and right halves of the brain (corpus callosum) have also been reported in people with this condition.</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/lujan-syndrome\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"lujan-syndrome","sourceDocuments":[{"name":"Lujan syndrome","reviewed":"2012-12","sections":{"causes":{"fetchedAt":"2026-10-20T20:22:59.700970+00:00","label":"Causes","pageSha256":"51b8351a52a58b4422d4f0f006916bb40ed73e451f0dc6796beadabf1d7805e7","sourceUrl":"https://medlineplus.gov/genetics/condition/lujan-syndrome/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/lujan-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":"Lujan syndrome"},"schemaVersion":1}