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GENATLAS PHENOTYPE |
last update : 20-11-2018 |
Symbol | PFIT |
Location | 4p16.1 |
Name | autoinflammatory periodic fever, immunodeficiency, and thrombocytopenia |
Corresponding gene | WDR1 |
Main clinical features |
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Genetic determination | autosomal recessive |
Function/system disorder | defense and immunity |
Type | disease |
Remark(s) |
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