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.

Also known as: GIDID2, gastrointestinal defects and immunodeficiency syndrome 2, multiple intestinal atresia with or without leukopenia

1 clinical trial for this condition and its sub-types, 0 tagged with Gastrointestinal defects and immunodeficiency syndrome 2 itself.