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Niemann-Pick disease type C1
Other Names for this Disease
- Neurovisceral storage disease with vertical supranuclear ophthalmoplegia
- Niemann-Pick disease with cholesterol esterification block
- Niemann-Pick disease, chronic neuronopathic form
- Niemann-Pick disease, subacute juvenile form
- Niemann-Pick disease, type C
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Tests & Diagnosis
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- The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.