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Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>Mutations in the NDP gene cause Norrie disease. The NDP gene provides instructions for making a protein called norrin. Norrin participates in the Wnt cascade, a sequence of steps that affect the way cells and tissues develop. In particular, norrin seems to play a critical role in the specialization of retinal cells for their unique sensory capabilities. It is also involved in the establishment of a blood supply to tissues of the retina and the inner ear, and the development of other body systems.</p><p>In order to initiate the Wnt cascade, norrin must bind (attach) to another protein called frizzled-4. Mutations in the norrin protein interfere with its ability to bind to frizzled-4, resulting in the signs and symptoms of Norrie disease.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/norrie-disease/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes Norrie disease?"},{"bodyHtml":"<p>About 30 percent of individuals with Norrie disease develop progressive hearing loss, and 30 to 50 percent of people affected experience developmental delays in motor skills such as sitting up and walking. Other problems may include mild to moderate intellectual disability, often with psychosis, and abnormalities that can affect circulation, breathing, digestion, excretion, or reproduction.</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/norrie-disease\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"norrie-disease","sourceDocuments":[{"name":"Norrie disease","reviewed":"2020-03","sections":{"causes":{"fetchedAt":"2026-10-20T20:23:51.240619+00:00","label":"Causes","pageSha256":"f171a0b9d74a605da180904cfca4ee0516def19b6aebcf247e2476358e62c767","sourceUrl":"https://medlineplus.gov/genetics/condition/norrie-disease/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/norrie-disease"}],"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":"Norrie disease"},"schemaVersion":1}