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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 ...
- 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 ...
- ... 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 ...
- ... RNASEH2A gene have been identified in people with Aicardi-Goutières syndrome, a disorder that often involves severe brain dysfunction ( ... health problems. The RNASEH2A gene variants that cause Aicardi-Goutières syndrome likely produce a dysfunctional RNase H2 complex. When ...
- ... 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- ...
- ... 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 ...
- ... ADAR gene have been identified in people with Aicardi-Goutières syndrome, a disorder that typically involves severe brain dysfunction ( ... organs, leading to the signs and symptoms of Aicardi-Goutières syndrome. More About This Health Condition ADAR gene variants ...
- ... been found to be a rare cause of Aicardi-Goutières syndrome, a disorder that typically involves severe brain dysfunction ( ... response leads to the signs and symptoms of Aicardi-Goutières syndrome. More About This Health Condition AGS8 FLJ38273 U7 ...
- ... RNU7-1 gene have been found to cause Aicardi-Goutières syndrome, a disorder that typically involves severe brain dysfunction ( ... response leads to the signs and symptoms of Aicardi-Goutières syndrome. More About This Health Condition AGS9 RF00066 RNA, ...
- ... include 22q11.2 deletion syndrome, Adams-Oliver syndrome, Aicardi syndrome, Galloway-Mowat syndrome, Joubert syndrome, and Zellweger spectrum ...
