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Results 1 - 10 of 24 for Aicardi syndrome
  1. Aicardi syndrome 
    Aicardi syndrome is a disorder that occurs almost exclusively in females. It is characterized by three main features ... occur together in most affected individuals. People with Aicardi syndrome have absent or underdeveloped tissue connecting the left ...
    https://medlineplus.gov/genetics/condition/aicardi-syndrome - Genetics
  2. Aicardi syndrome 
    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 ...
    https://medlineplus.gov/ency/article/001664.htm - Medical Encyclopedia
  3. Aicardi-Goutières syndrome 
    Aicardi-Goutières syndrome is a disorder with variable signs and symptoms, but it primarily affects the brain, the immune system, and the skin. Aicardi-Goutières ...
    https://medlineplus.gov/.../condition/aicardi-goutieres-syndrome - Genetics
  4. Aicardi-Goutieres Syndrome From the National Institutes of Health (National Institute of Neurological Disorders and Stroke)  
    ... skin. AGS is distinct from the similarly named Aicardi syndrome (characterized by absence of a brain structure (corpus ...
    https://www.ninds.nih.gov/.../disorders/aicardi-goutieres-syndrome - External Health Links
  5. Birth Disorders of the Brain and Spinal Cord From the National Institutes of Health (National Institute of Neurological Disorders and Stroke)  
    Brain Diseases/Specifics ... Brain Diseases ... Hydrocephalus/Specifics ... Hydrocephalus ... Brain Malformations/Specifics ... Brain Malformations ... Neural Tube Defects/Specifics
    https://www.ninds.nih.gov/.../birth-disorders-brain-and-spinal-cord - External Health Links
  6. Brain Malformations (National Library of Medicine)  
    Most brain malformations begin long before a baby is born. Something damages the developing nervous system or causes it to develop abnormally. Sometimes it's ...
    https://medlineplus.gov/brainmalformations.html - Health Topics
  7. TREX1 gene 
    ... TREX1 gene have been identified in people with Aicardi-Goutières syndrome, a disorder that involves severe brain dysfunction (encephalopathy), ... organs, resulting in the signs and symptoms of Aicardi-Goutières syndrome. More About This Health Condition Variants in the ...
    https://medlineplus.gov/genetics/gene/trex1 - Genetics
  8. RNASEH2C gene 
    ... RNASEH2C gene have been identified in people with Aicardi-Goutières syndrome, a disorder that often involves severe brain dysfunction ( ... health problems. The RNASEH2C gene mutations that cause Aicardi-Goutières syndrome likely produce a dysfunctional RNase H2 complex. When ...
    https://medlineplus.gov/genetics/gene/rnaseh2c - Genetics
  9. SAMHD1 gene 
    ... SAMHD1 gene have been identified in people with Aicardi-Goutières syndrome, a disorder that often involves severe brain dysfunction ( ... that leads to the signs and symptoms of Aicardi-Goutières syndrome. More About This Health Condition DCIP dendritic cell- ...
    https://medlineplus.gov/genetics/gene/samhd1 - Genetics
  10. IFIH1 gene 
    ... the IFIH1 gene have been found to cause Aicardi-Goutières syndrome. This disorder is characterized by abnormalities of the ... the brain.The IFIH1 gene variants involved in Aicardi-Goutières syndrome are described as "gain-of-function" variants because ...
    https://medlineplus.gov/genetics/gene/ifih1 - Genetics
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