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genome.gov
Rare Genetic Diseases
Genomics is ending diagnostic odysseys for patients with rare diseases.
Apr 13, 2018
Genetic Disorder Causes
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Neurofibromatosis is a genetic disorder that causes tumors to grow along nerves in the body, skin, and brain. These tumors are usually noncancerous, but they can lead to skin changes, bone deformities, hearing or vision problems, and learning difficulties depending on their size and location. There are three main types - NF1, NF2, and schwannomatosis - each with different symptoms and severity. The condition is inherited in most cases, though it can also occur through random genetic mutation. |
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