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Gastrointestinal defects immunodeficiency syndrome 2
- ... Rare Disorders (NORD) SNEDDON SYNDROME; SNDNS VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME; VAIHS PubMed Caorsi R, Penco F, Grossi A, ...
- ... Because it is unlikely that females will have two altered copies of this gene, males are affected by X-linked ... Genetic Testing Registry: ...
- ... are the most common type of infection, though gastrointestinal and urinary ... also have heart defects that are present from birth (congenital)..cf0{font- ...
- ... often occur in the lungs, ears, skin, or gastrointestinal tract. In severe cases of PGM3-CDG, impaired ... CDG can also cause problems in the lungs, gastrointestinal tract, and kidneys.Lifespan varies widely in people ...