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Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>Certain variants (also called mutations) in one of several genes cause DES. There are at least four types of DES, each with a different genetic cause. Variants in the VLDLR gene cause a form of DES called type 1, also sometimes called VLDLR-related cerebellar hypoplasia. This is the most common form of DES.</p><p>The VLDLR gene provides instructions for making a protein called a very low-density lipoprotein (VLDL) receptor. This protein plays a critical role in guiding developing nerve cells to the appropriate locations in the brain. Many of the variants in the VLDLR gene that are associated with DES type 1 prevent cells from producing any functional VLDL receptor protein. Without this protein, developing nerve cells cannot reach the parts of the brain where they are needed. This impairs brain development, which leads to the intellectual disabilities and ataxia seen in people with this condition.</p><p>Variants in different genes cause the other types of DES and are each responsible for a small percentage of cases.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/dysequilibrium-syndrome/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes Dysequilibrium syndrome?"},{"bodyHtml":"<p>In people with DES, the part of the brain that coordinates movement (cerebellum) may be unusually small and underdeveloped (cerebellar hypoplasia). This can lead to ataxia that is present from birth and typically does not worsen over time. Additional brain abnormalities may include further loss of tissue (atrophy) in the cerebellum; fewer folds and grooves (gyri) on the surface of the brain; and a small brainstem, which is the area of the brain that connects the brain to the spinal cord.</p><p>Children with DES may have low muscle tone (hypotonia) and delayed development of motor skills such as walking. Some affected individuals learn to walk later in childhood, while others are never able to walk independently.</p><p>Additional features of DES may include intellectual disabilities that can vary from mild to profound; rapid, involuntary eye movements (nystagmus); and eyes that do not look in the same direction (strabismus). People with DES may also have difficulty speaking (dysarthria) or be unable to speak. Flat feet (pes planus), seizures, and short stature have been reported in some people with DES.</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/dysequilibrium-syndrome\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"dysequilibrium-syndrome","sourceDocuments":[{"name":"Dysequilibrium syndrome","reviewed":"2026-03","sections":{"causes":{"fetchedAt":"2026-10-20T20:21:06.147134+00:00","label":"Causes","pageSha256":"131a4e4fbde3d3d05f3cdd036fe87f46528c503658d0b7d2b61b79706d4aad22","sourceUrl":"https://medlineplus.gov/genetics/condition/dysequilibrium-syndrome/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/dysequilibrium-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":"Dysequilibrium syndrome"},"schemaVersion":1}