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Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>Variants (also known as mutations) in the SLC6A8 gene cause X-linked creatine deficiency. The SLC6A8 gene provides instructions for making a protein that transports a compound called creatine into cells. Creatine is needed for the body to store and use energy properly.</p><p>SLC6A8 gene variants impair the transporter protein&#x27;s ability to bring creatine into cells, resulting in a shortage (deficiency) of creatine. The effects of creatine deficiency are most severe in organs and tissues that require large amounts of energy, especially the brain.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/x-linked-creatine-deficiency/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes X-linked creatine deficiency?"},{"bodyHtml":"<p>A small number of people with X-linked creatine deficiency have additional signs and symptoms including abnormal heart rhythms, an unusually small head (microcephaly), or distinctive facial features such as a broad forehead and a flat or sunken appearance of the middle of the face (midface hypoplasia).</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/x-linked-creatine-deficiency\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"x-linked-creatine-deficiency","sourceDocuments":[{"name":"X-linked creatine deficiency","reviewed":"2011-06","sections":{"causes":{"fetchedAt":"2026-10-20T20:25:55.591672+00:00","label":"Causes","pageSha256":"20bd755b53e218d2f97b9bc333d28a3281859cc8c03ef7d6df60c3181dd4a7a6","sourceUrl":"https://medlineplus.gov/genetics/condition/x-linked-creatine-deficiency/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/x-linked-creatine-deficiency"}],"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":"X-linked creatine deficiency"},"schemaVersion":1}