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Up to: Gastrointestinal defect and immunodeficiency syndrome · PI4KA-related disorder
Gastrointestinal defects and immunodeficiency syndrome 2
A severe autosomal recessive developmental disorder characterized by multiple intestinal atresia apparent soon after birth. Affected infants have a distended abdomen and do not pass meconium. There is some evidence of inflammatory bowel disease. Death occurs in the first weeks of life. Some patients may also have immunodeficiency.
This condition has no sub-types.