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Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>Mutations in the KCNK9 gene cause KCNK9 imprinting syndrome. This gene provides instructions for making a protein called TASK3, which functions as a potassium channel. Potassium channels transport positively charged atoms (ions) of potassium into and out of cells.</p><p>TASK3 channels are especially abundant in nerve cells (neurons) in the brain, particularly the region of the brain that coordinates movement (cerebellum). The flow of ions through potassium channels in neurons is involved in activating (exciting) the neurons and sending electrical signals in the brain. TASK3 channels, in particular, maintain the neuron&#x27;s ability to generate electrical signals and regulate the neuron&#x27;s activity (excitability).</p><p>The genetic changes that cause KCNK9 imprinting syndrome alter the TASK3 channels. This alteration reduces the flow of ions through the channels, which disrupts normal neuron development and excitability. Impairment of neuron function likely underlies the hypotonia, intellectual disability, and developmental problems characteristic of KCNK9 imprinting syndrome.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/kcnk9-imprinting-syndrome/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes KCNK9 imprinting syndrome?"},{"bodyHtml":"<p>KCNK9 imprinting syndrome is also characterized by intellectual disability and delayed development of speech and motor skills, such as sitting and walking. Many affected individuals have limited speech throughout life.</p><p>This condition is associated with unusual facial features, including an elongated face that narrows at the temples; an upper lip that points outward (called a tented lip); a short, broad space between the lip and the nose (philtrum); a small lower jaw (micrognathia); and abnormally shaped eyebrows. Some affected individuals have an opening in the roof of the mouth (cleft palate). In addition to unusual facial features, some people with KCNK9 imprinting syndrome have a long neck, a narrow chest, and tapered fingers.</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/kcnk9-imprinting-syndrome\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"kcnk9-imprinting-syndrome","sourceDocuments":[{"name":"KCNK9 imprinting syndrome","reviewed":"2017-06","sections":{"causes":{"fetchedAt":"2026-10-20T20:22:40.574803+00:00","label":"Causes","pageSha256":"27042b2649a42bb75f4e673e647fdc32543f3980224f1f4448a243f1b3ea79ea","sourceUrl":"https://medlineplus.gov/genetics/condition/kcnk9-imprinting-syndrome/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/kcnk9-imprinting-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":"KCNK9 imprinting syndrome"},"schemaVersion":1}