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  1. ... sensitive information only on official, secure websites. Description Aicardi syndrome is a disorder that occurs almost exclusively in ... occur together in most affected individuals. People with Aicardi syndrome have absent or underdeveloped tissue connecting the left ...
  2. Aicardi syndrome is a rare disorder. In this condition, the structure that connects the two sides of the ... The cause of Aicardi syndrome is unknown at this time. In some cases, experts believe it may be a result of a gene defect ...
  3. ... syndrome. Learn more about the genes associated with Aicardi-Goutières syndrome ADAR IFIH1 RNASEH2A RNASEH2B RNASEH2C SAMHD1 TREX1 Inheritance ...
  4. ... 90%) die in the first year of life. Aicardi syndrome Aicardi syndrome is presumed to be an X-linked condition ... 6, 2003. [ PubMed : 12939582 ] Kamien BA, Gabbett MT: Aicardi syndrome associated with hepatoblastoma and pulmonary sequestration. Am J ...
  5. ... system activation. Health Conditions Related to Genetic Changes Aicardi-Goutières syndrome At least 42 mutations in the RNASEH2A gene have been identified in people with Aicardi-Goutières syndrome, a disorder that involves severe brain dysfunction (encephalopathy), ...
  6. ... viral infections. Health Conditions Related to Genetic Changes Aicardi-Goutières syndrome At least 78 mutations in the SAMHD1 gene have been identified in people with Aicardi-Goutières syndrome, a disorder that involves severe brain dysfunction (encephalopathy), ...
  7. ... other processes. Health Conditions Related to Genetic Changes Aicardi-Goutières syndrome At least 82 mutations in the TREX1 gene have been identified in people with Aicardi-Goutières syndrome, a disorder that involves severe brain dysfunction (encephalopathy), ...
  8. ... published></health-condition-summary><health-condition-summary ><name >Aicardi syndrome</name><ghr-page >https://medlineplus.gov/genetics/condition/ ...
  9. ... immune response. Health Conditions Related to Genetic Changes Aicardi-Goutières syndrome At least 12 IFIH1 gene mutations have been found in people with Aicardi-Goutières syndrome. This disorder is characterized by abnormalities of the ...
  10. ... well understood. Health Conditions Related to Genetic Changes Aicardi-Goutières syndrome At least 30 ADAR gene mutations have been identified in people with Aicardi-Goutières syndrome, a disorder that involves severe brain dysfunction (encephalopathy), ...
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