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Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>Mutations in a gene called OPA3 cause Costeff syndrome. The OPA3 gene provides instructions for making a protein whose exact function is unknown. The OPA3 protein is found in structures called mitochondria, which are the energy-producing centers of cells. It is thought to play a role in the organization of the shape and structure of mitochondria and in controlled cell death (apoptosis).</p><p>OPA3 gene mutations that result in Costeff syndrome lead to a loss of OPA3 protein function. Cells without any functional OPA3 protein have abnormally shaped mitochondria. These cells likely have reduced energy production and die prematurely, decreasing energy availability in the body&#x27;s tissues. Cells in the eyes and brain have high energy demands, and it is likely that they are particularly vulnerable to cell death due to dysfunctional mitochondria and reduced energy production.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/costeff-syndrome/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes Costeff syndrome?"},{"bodyHtml":"<p>Development of motor skills, such as walking, is often delayed in people with Costeff syndrome. Affected individuals may also have speech difficulties (dysarthria). While some people with Costeff syndrome have mild to moderate intellectual disability, many have normal intelligence.</p><p>Movement problems in people with Costeff syndrome develop in late childhood and include muscle stiffness (spasticity), impaired muscle coordination (ataxia), and involuntary jerking movements (choreiform movements). As a result of these movement difficulties, individuals with Costeff syndrome may require wheelchair assistance.</p><p>Costeff syndrome is associated with increased levels of a substance called 3-methylglutaconic acid in the urine (3-methylglutaconic aciduria). The amount of this substance does not appear to influence the signs and symptoms of the condition. Costeff syndrome is one of a group of metabolic disorders that can be diagnosed by the presence of 3-methylglutaconic aciduria. People with Costeff syndrome also have high levels of another acid called 3-methylglutaric acid in their urine.</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/costeff-syndrome\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"costeff-syndrome","sourceDocuments":[{"name":"Costeff syndrome","reviewed":"2019-02","sections":{"causes":{"fetchedAt":"2026-10-20T20:20:42.037584+00:00","label":"Causes","pageSha256":"c958f4fb3fe0326ee297799647956f3ac74c4747da5bf183fec082e0deb6f320","sourceUrl":"https://medlineplus.gov/genetics/condition/costeff-syndrome/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/costeff-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":"Costeff syndrome"},"schemaVersion":1}