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Results 1 - 10 of 14 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. RNASEH2A gene 
    ... RNASEH2A gene have been identified in people with Aicardi-Goutières syndrome, a disorder that involves severe brain ... system activation. The RNASEH2A gene mutations that cause Aicardi-Goutières syndrome likely result in a dysfunctional RNase ...
    https://medlineplus.gov/genetics/gene/rnaseh2a - Genetics
  4. 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
  5. 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
  6. 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
  7. 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
  8. Polymicrogyria 
    ... include 22q11.2 deletion syndrome, Adams-Oliver syndrome, Aicardi syndrome, Galloway-Mowat syndrome, Joubert syndrome, and Zellweger ...
    https://medlineplus.gov/genetics/condition/polymicrogyria - Genetics
  9. SCN9A gene 
    ... 22. Citation on PubMed Fertleman CR, Ferrie CD, Aicardi J, Bednarek NA, Eeg-Olofsson O, Elmslie FV, ...
    https://medlineplus.gov/genetics/gene/scn9a - Genetics
  10. Paroxysmal extreme pain disorder 
    ... 006. Citation on PubMed Fertleman CR, Ferrie CD, Aicardi J, Bednarek NA, Eeg-Olofsson O, Elmslie FV, ...
    https://medlineplus.gov/.../paroxysmal-extreme-pain-disorder - Genetics
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