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.
MONDO:0030831
gastrointestinal defect and immunodeficiency syndrome
is_a
MONDO:1040012
PI4KA-related disorder
is_a
GIDID2
exact
gastrointestinal defects and immunodeficiency syndrome 2
exact
multiple intestinal atresia with or without leukopenia
exact
SPBC577.06c