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Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>Mutations in a gene called MECP2 underlie almost all cases of classic Rett syndrome and some variant forms of the condition. This gene provides instructions for making a protein (MeCP2) that is critical for normal brain function. Although the exact function of the MeCP2 protein is unclear, it is likely involved in maintaining connections (synapses) between nerve cells (neurons). It may also be necessary for the normal function of other types of brain cells.</p><p>The MeCP2 protein is thought to help regulate the activity of genes in the brain. This protein may also control the production of different versions of certain proteins in brain cells. Mutations in the MECP2 gene alter the MeCP2 protein or result in the production of less protein, which appears to disrupt the normal function of neurons and other cells in the brain. Specifically, studies suggest that changes in the MeCP2 protein may reduce the activity of certain neurons and impair their ability to communicate with one another. It is unclear how these changes lead to the specific features of Rett syndrome.</p><p>Several conditions with signs and symptoms overlapping those of Rett syndrome have been found to result from mutations in other genes. These conditions, including FOXG1 syndrome and CDKL5 deficiency disorder, were previously thought to be variant forms of Rett syndrome. However, doctors and researchers have identified some important differences between the conditions, so they are now usually considered to be separate disorders.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/rett-syndrome/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes Rett syndrome?"},{"bodyHtml":"<p>Researchers have described several variant or atypical forms of Rett syndrome, which can be milder or more severe than the classic form.</p><p>Rett syndrome is part of a spectrum of disorders with the same genetic cause. Other disorders on the spectrum include PPM-X syndrome, MECP2 duplication syndrome, and MECP2-related severe neonatal encephalopathy. These other conditions can affect males.</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/rett-syndrome\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"rett-syndrome","sourceDocuments":[{"name":"Rett syndrome","reviewed":"2013-12","sections":{"causes":{"fetchedAt":"2026-10-20T20:24:44.189165+00:00","label":"Causes","pageSha256":"f53d68139896a99181009ee8a17583972ed94da053dc0230b12ed9624a25681e","sourceUrl":"https://medlineplus.gov/genetics/condition/rett-syndrome/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/rett-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":"Rett syndrome"},"schemaVersion":1}