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  1. Aicardi Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1381
    ... and neuronal migration abnormalities may be suggestive of Aicardi syndrome, no findings are diagnostic. Diagnosis No consensus clinical diagnostic criteria for Aicardi syndrome ...
  2. Aicardi-Goutières syndrome: MedlinePlus Genetics 
    https://medlineplus.gov/.../condition/aicardi-goutieres-syndrome
    ... in encephalopathy, skin lesions, and other signs and symptoms of Aicardi-Goutières syndrome. Variants in other genes, including the SAMHD1 , IFIH1 , ... reactions that lead to the other signs and symptoms of Aicardi-Goutières syndrome. Variants in the TREX1 , RNASEH2A , and RNASEH2C genes ...
  3. Aicardi syndrome: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/condition/aicardi-syndrome
    ... may live into adulthood with milder signs and symptoms. Frequency Aicardi syndrome is a very rare disorder. It occurs in ... is unknown how the genetic change that causes Aicardi syndrome results in the various signs and symptoms of this disorder. Inheritance Nearly all known cases ...
  4. Aicardi syndrome 
    https://medlineplus.gov/ency/article/001664.htm
    ... your health care provider if your child has symptoms of Aicardi syndrome. Seek emergency care if the infant is having ...
  5. Aicardi-Goutières Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1475
    ... interferon-alpha in fetal blood in the prenatal diagnosis of Aicardi-Goutieres syndrome. Fetal Diagn Ther. 2006; 21 :153–5. [ PubMed : ... P, Buenerd A, Escalon J, Gaucherand P. Prenatal diagnosis of Aicardi-Goutieres syndrome. Prenat Diagn. 2005; 25 :28–30. [ PubMed : 15662687 ] ...
  6. Microphthalmia with Linear Skin Defects Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK7041
    ... lacunae, infantile spasms) are needed to make the diagnosis of Aicardi syndrome; these features are rarely found associated with microphthalmia in MLS syndrome. Management Evaluations Following Initial Diagnosis To establish the extent of disease and needs ...
  7. IFIH1 gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/ifih1
    ... brain and skin, leading to the signs and symptoms of Aicardi-Goutières syndrome. More About This Health Condition MDA5 deficiency A ... people with IFIH1 gene variants have signs and symptoms of both Singleton-Merten syndrome and Aicardi-Goutières syndrome (described above), suggesting that these two ...
  8. TREX1 gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/trex1
    ... and other organs, resulting in the signs and symptoms of Aicardi-Goutières syndrome. More About This Health Condition Systemic lupus erythematosus ... of chilblain lupus often occur in people with Aicardi-Goutières syndrome (described ... of SLE. More About This Health Condition Other ...
  9. ADAR gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/adar
    ... tissues and organs, leading to the signs and symptoms of Aicardi-Goutières syndrome. More About This Health Condition Other disorders ADAR ...
  10. RNASEH2A gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/rnaseh2a
    ... multiple body systems that cause the signs and symptoms of Aicardi-Goutières syndrome. More About This Health Condition Other Names for ...
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