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Neurofibromatosis

Neurofibromatosis

Neurofibromatosis is a genetic disease that causes tumours to form on nerve tissue. These tumours can develop anywhere in the nervous system, including the brain, spinal cord, and nerves. The tumours in these disorders are usually non-cancerous (benign), but sometimes can become cancerous (malignant). Symptoms are often mild. However, complications of neurofibromatosis can include hearing loss, learning impairment, cardiovascular problems, loss of vision, and severe pain.

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Fragile X Syndrome

Fragile X syndrome is a genetic disorder that affects the brain and other parts of the body. It is caused by a mutation in the FMR1 gene on the X chromosome, which makes a protein needed for normal cell function. The mutation can cause the gene to have too many repeats of a DNA segment called CGG, which can turn off the gene and stop making the protein. This leads to intellectual disability, physical features, and behavioral problems in affected individuals. The disorder is more common and severe in males than females, and can also affect their parents and grandparents in different ways.

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