Gastrointestinal defects and immunodeficiency syndrome 2
MONDO:0030669A 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
5 clinical trials for this condition and its sub-types.
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Disease
(618)
Hereditary disease
(172)
Digestive system disorder
(141)
Intestinal disorder
(55)
Human disease
(14)
Intestinal atresia
(3)
Disease of genetic or genomic mechanism
(2)
Disease by body system or component
(0)
Disease by developmental or physiological process
(0)
Disease by etiologic mechanism
(0)