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Up to: Hereditary disorder of connective tissue · Type 1 interferonopathy
RNU7-1-related type 1 interferonopathy
Any type 1 interferonopathies in which the cause of the disease is a variation in the RNU7-1 gene. Individuals with variants in RNUF7-1 can present with a variety of phenotypes, including Aicardi-Goutieres syndrome.
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Aicardi-Goutieres syndrome 9 0 trials