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MedlinePlus is a service of the National Library of Medicine (NLM), the world's largest medical library, which is part of the National Institutes of Health (NIH). It was built as an online health information resource for patients and their families and friends.

MedlinePlus presents high-quality, easy to understand, relevant health and wellness information that is trusted.

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  • Sourced from more than 1,600 selected organizations.
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Genetic Brain Disorders

A genetic brain disorder is caused by a variation or a mutation in a gene. A variation is a different form of a gene. A mutation is a change in a gene. Genetic brain disorders affect the development and function of the brain.

Some genetic brain disorders are due to random gene mutations or mutations caused by environmental exposure, such as cigarette smoke. Other disorders are inherited, which means that a mutated gene or group of genes is passed down through a family. They can also be due to a combination of both genetic changes and other outside factors.

Some examples of genetic brain disorders include:

  • Leukodystrophies
  • Phenylketonuria
  • Tay-Sachs disease
  • Wilson disease

Many people with genetic brain disorders fail to produce enough of certain proteins that influence brain development and function. These brain disorders can cause serious problems that affect the nervous system. Some have treatments to control symptoms. Some are life-threatening.