Details of Disease
General Information of Disease (ID: DIS1WY4W)
| Disease Name | IFIH1-related type 1 interferonopathy | ||||
|---|---|---|---|---|---|
| Definition |
Any type 1 interferonopathies in which the cause of the disease is a variation in the IFIH1 gene. Individuals with variants in IFIH1 can present with a variety of phenotypes, including Aicardi-Goutieres syndrome and singleton-Merten syndrome.
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