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Brain disorder
- ... many parts of the body, most often the brain, muscles, and kidneys. The COQ8B gene mutations associated with this disorder greatly reduce or eliminate the function of the ...
- ... many parts of the body, most often the brain, muscles, and kidneys. The COQ6 gene mutations associated with this disorder result in a COQ6 enzyme with an abnormal ...
- ... many parts of the body, most often the brain, muscles, and kidneys. The COQ4 gene mutations associated with this disorder greatly reduce or eliminate the production of the ...
- ... thought that the changes in signaling in the brain lead to development of the severe headaches characteristic of the disorder. More About This Health Condition Variants in the ...
- ... identified in people with Aicardi-Goutières syndrome, a disorder that typically involves severe brain dysfunction (encephalopathy), skin lesions, immune system abnormalities, and ...
- ... syndrome (described above), such as Joubert syndrome. This disorder is characterized by particular brain abnormalities, weak muscle tone (hypotonia), delayed development, unusual ...
- ... been found to cause Aicardi-Goutières syndrome, a disorder that typically involves severe brain dysfunction (encephalopathy), skin lesions, immune system abnormalities, and ...
- ... gangliosidosis, AB variant). This is a rare inherited disorder that results in progressive brain injury. Some of the GM2A gene variants change ...
- ... identified in people with Aicardi-Goutières syndrome, a disorder that often involves severe brain dysfunction (encephalopathy), skin lesions, and other health problems. ...
- ... identified in people with Aicardi-Goutières syndrome, a disorder that often involves severe brain dysfunction (encephalopathy), skin lesions, and other health problems. ...
