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Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>Christianson syndrome is caused by mutations in the SLC9A6 gene, which provides instructions for making a protein called sodium/hydrogen exchanger 6 (Na+/H+ exchanger 6 or NHE6). The NHE6 protein is found in the membrane surrounding endosomes, which are compartments within cells that recycle proteins and other materials. The NHE6 protein helps exchange positively charged atoms (ions) of sodium (Na+) with hydrogen ions (H+) across the endosomal membrane. By controlling the amount of hydrogen ions, the NHE6 protein helps regulate the relative acidity (pH) inside endosomes, which is important for the recycling function of these compartments. The NHE6 protein may have additional functions, such as helping to move proteins to the correct location in the cell (protein trafficking).</p><p>Mutations in the SLC9A6 gene typically lead to an abnormally short NHE6 protein that is nonfunctional or that is broken down quickly in cells, resulting in the absence of functional NHE6 proteins. As a result, the pH in endosomes is not properly maintained. It is unclear how unregulated endosomal pH leads to neurological problems in people with Christianson syndrome. Some studies have shown that protein trafficking by endosomes is important for learning and memory, but the role of endosomal pH or the NHE6 protein in this process has not been identified.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/christianson-syndrome/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes Christianson syndrome?"},{"bodyHtml":"<p>Other features seen in many people with Christianson syndrome include a small head size (microcephaly); a long, narrow face with prominent nose, jaw, and ears; an open mouth and uncontrolled drooling; and abnormal eye movements. Affected children often have a happy demeanor with frequent smiling and spontaneous laughter.</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/christianson-syndrome\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"christianson-syndrome","sourceDocuments":[{"name":"Christianson syndrome","reviewed":"2012-04","sections":{"causes":{"fetchedAt":"2026-10-20T20:20:16.938790+00:00","label":"Causes","pageSha256":"9b8c570510e59686def18560d2fd133b7a41c2d2b9965785840538511ca2b4a5","sourceUrl":"https://medlineplus.gov/genetics/condition/christianson-syndrome/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/christianson-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":"Christianson syndrome"},"schemaVersion":1}