- Gastrointestinal atresia (HP:0002589). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:436252)
- Severe combined immunodeficiency (HP:0004430): A type of primary immune deficiency that is characterized by a more severe defect in both the T- and B-lymphocyte systems. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:436252)
- Ectopic calcification (HP:0010766): Deposition of calcium salts in a tissue or location in which calcification does not normally occur. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:436252)
- Intestinal atresia (HP:0011100): An abnormal closure, or atresia of the tubular structure of the intestine. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:436252)
- Intrauterine growth retardation (HP:0001511): An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:436252)
- Polyhydramnios (HP:0001561): The presence of excess amniotic fluid in the uterus during pregnancy. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:436252)
- Absent eyebrow (HP:0002223): Absence of the eyebrow. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:436252)
- Immunodeficiency (HP:0002721): Failure of the immune system to protect the body adequately from infection, due to the absence or insufficiency of some component process or substance. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:436252)
- Abdominal distention (HP:0003270): Distention of the abdomen. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:436252)
- Jejunoileal ulceration (HP:0005229). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:436252)
- Sparse hair (HP:0008070): Reduced density of hairs. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:436252)
- Bloody diarrhea (HP:0025085): Passage of many stools containing blood. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:436252)
- Hypoplasia of the thymus (HP:0000778): Underdevelopment of the thymus. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:436252)
- Thickened skin (HP:0001072): Laminar thickening of skin. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:436252)
- Alopecia of scalp (HP:0002293). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:436252)
- Intestinal malrotation (HP:0002566): An abnormality of the intestinal rotation and fixation that normally occurs during the development of the gut. This can lead to volvulus, or twisting of the intestine that causes obstruction and necrosis. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:436252)
- Recurrent abscess formation (HP:0002722): An increased susceptibility to abscess formation, as manifested by a medical history of recurrent abscesses. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:436252)
- Rectal abscess (HP:0005224): A collection of pus in the area of the rectum. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:436252)
- Peritoneal abscess (HP:0100592): The presence of an abscess of the peritoneum. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:436252)
- Abnormal ductus choledochus morphology (HP:0100889): An abnormality of the Common bile duct, a tube-like anatomic structure in the human gastrointestinal tract, formed by the union of the Common hepatic duct and the Cystic duct from the gall bladder. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:436252)
- Hashimoto thyroiditis (HP:0000872): A chronic, autoimmune type of thyroiditis associated with hypothyroidism. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:436252)
- Omphalocele (HP:0001539): A midline anterior incomplete closure of the abdominal wall in which there is herniation of the abdominal viscera into the base of the abdominal cord. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:436252)
- Ventricular septal defect (HP:0001629): A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:436252)
- Autoimmune hemolytic anemia (HP:0001890): An autoimmune form of hemolytic anemia. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:436252)
- Autoimmunity (HP:0002960): The occurrence of an immune reaction against the organism's own cells or tissues. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:436252)
- Psoriasiform dermatitis (HP:0003765): A skin abnormality characterized by redness and irritation, with thick, red skin that displays flaky, silver-white patches (scales). Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:436252)
- Nail dystrophy (HP:0008404): Onychodystrophy (nail dystrophy) refers to nail changes apart from changes of the color (nail dyschromia) and involves partial or complete disruption of the various keratinous layers of the nail plate. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:436252)
- Congenital pulmonary airway malformation (HP:0010959): Congenital pulmonary airway malformation (CPAM) - previously known as congenital cystic adenomatoid malformation (CCAM) - is a relatively rare developmental malformation of the lower respiratory tract. It is a hamartomatous, dysplastic developmental abnormality of the lung characterized by abnormal airway patterning during lung branching morphogenesis and is formed by abnormal branching of the immature bronchioles. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:436252)
- Hepatitis (HP:0012115): Inflammation of the liver. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:436252)
- Type I diabetes mellitus (HP:0100651): A chronic condition in which the pancreas produces little or no insulin. Type I diabetes mellitus is manifested by the sudden onset of severe hyperglycemia with rapid progression to diabetic ketoacidosis unless treated with insulin. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:436252)
These phenotypes are associated with the disease Combined immunodeficiency-multiple intestinal atresia (ORPHA:436252).