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Results 1 - 10 of 21 for aicardi
  1. Aicardi-Goutières syndrome 
    Aicardi-Goutières syndrome is a disorder that mainly affects the brain, the immune system, and the skin.Most newborns with Aicardi-Goutières syndrome do not ...
    https://medlineplus.gov/.../condition/aicardi-goutieres-syndrome - Genetics
  2. Aicardi syndrome 
    Aicardi syndrome is a disorder that occurs almost exclusively in females. It is characterized by three main features that occur together in most affected individuals. ...
    https://medlineplus.gov/genetics/condition/aicardi-syndrome - Genetics
  3. Aicardi syndrome 
    Aicardi syndrome is a rare disorder. In this condition, the structure that connects the two sides of ... The cause of Aicardi syndrome is unknown at this time. In some cases, experts believe it may be a result of a gene ...
    https://medlineplus.gov/ency/article/001664.htm - Medical Encyclopedia
  4. Aicardi-Goutieres Syndrome From the National Institutes of Health (National Institute of Neurological Disorders and Stroke)  
    Leukodystrophies/Specifics ... Leukodystrophies ... National Institute of Neurological Disorders and Stroke ... From the National Institutes of Health ... Aicardi-Goutières ...
    https://www.ninds.nih.gov/.../disorders/aicardi-goutieres-syndrome - External Health Links
  5. RNASEH2C gene 
    ... RNASEH2C gene have been identified in people with Aicardi-Goutières syndrome, a disorder that involves severe brain ... system activation. The RNASEH2C gene mutations that cause Aicardi-Goutières syndrome likely result in a dysfunctional RNase ...
    https://medlineplus.gov/genetics/gene/rnaseh2c - Genetics
  6. Birth Disorders of the Brain and Spinal Cord From the National Institutes of Health (National Institute of Neurological Disorders and Stroke)  
    Cerebellar Disorders/Specifics ... Cerebellar Disorders ... Genetic Brain Disorders/Specifics ... Genetic Brain Disorders ... Craniofacial Abnormalities/Specifics ... Craniofacial ...
    https://www.ninds.nih.gov/.../birth-disorders-brain-and-spinal-cord - External Health Links
  7. TREX1 gene 
    ... TREX1 gene have been identified in people with Aicardi-Goutières syndrome, a disorder that involves severe brain ... and result in the signs and symptoms of Aicardi-Goutières syndrome. More About This Health Condition Mutations ...
    https://medlineplus.gov/genetics/gene/trex1 - Genetics
  8. SAMHD1 gene 
    ... SAMHD1 gene have been identified in people with Aicardi-Goutières syndrome, a disorder that involves severe brain ... systems that lead to the characteristic features of Aicardi-Goutières syndrome. More About This Health Condition AGS5 ...
    https://medlineplus.gov/genetics/gene/samhd1 - Genetics
  9. IFIH1 gene 
    ... gene mutations have been found in people with Aicardi-Goutières syndrome. This disorder is characterized by abnormalities ... the brain.The IFIH1 gene mutations involved in Aicardi-Goutières syndrome are described as "gain-of-function" ...
    https://medlineplus.gov/genetics/gene/ifih1 - Genetics
  10. ADAR gene 
    ... gene mutations have been identified in people with Aicardi-Goutières syndrome, a disorder that involves severe brain ... organs, leading to the signs and symptoms of Aicardi-Goutières syndrome. More About This Health Condition More ...
    https://medlineplus.gov/genetics/gene/adar - Genetics
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