- Recurrent urinary tract infections (HP:0000010): Repeated infections of the urinary tract. Evidence: IEA. (OMIM:209920)
- Malabsorption (HP:0002024): Impaired ability to absorb one or more nutrients from the intestine. Evidence: IEA. (OMIM:209920)
- Recurrent lower respiratory tract infections (HP:0002783): An increased susceptibility to lower respiratory tract infections as manifested by a history of recurrent lower respiratory tract infections. Evidence: IEA. (OMIM:209920)
- Agammaglobulinemia (HP:0004432): A lasting absence of total IgG and total IgA and total IgM in the blood circulation, whereby at most trace quantities can be measured. Evidence: IEA. (OMIM:209920)
- Colitis (HP:0002583): Colitis refers to an inflammation of the colon and is often used to describe an inflammation of the large intestine (colon, cecum and rectum). Colitides may be acute and self-limited or chronic, and broadly fit into the category of digestive diseases. Evidence: IEA. (OMIM:209920)
- Protracted diarrhea (HP:0004385). Evidence: IEA. (OMIM:209920)
- Recurrent protozoan infections (HP:0005386): Increased susceptibility to protozoan infections as manifested by recurrent episodes of protozoan infection. Evidence: IEA. (OMIM:209920)
- Infectious encephalitis (HP:0002383): A disorder of the brain caused by an infectious agent that presents with fever, headache, and an altered level of consciousness. There may also be focal or multifocal neurologic deficits, and focal or generalized seizure activity. Evidence: IEA. (OMIM:209920)
- Biliary tract abnormality (HP:0001080): An abnormality of the biliary tree. Evidence: IEA. (OMIM:209920)
- Chronic lymphocytic meningitis (HP:0007041): Meningitis that persists for more than 4 weeks, and lymphocytes are present in the cerebrospinal fluid (CSF). Evidence: IEA. (OMIM:209920)
- Failure to thrive (HP:0001508): Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm. Evidence: IEA. (OMIM:209920)
- Recurrent mucocutaneous candidiasis (HP:0002728): Recurrent or persistent superficial Candida infections of the skin, mucous membranes, and nails. Evidence: IEA. (OMIM:209920)
- Villous atrophy (HP:0011473): The enteric villi are atrophic or absent. Evidence: TAS. (OMIM:209920)
- Recurrent bacterial infections (HP:0002718): Increased susceptibility to bacterial infections as manifested by recurrent episodes of bacterial infection. Evidence: TAS. (OMIM:209920)
- Viral hepatitis (HP:0006562): Inflammation of the liver due to infection with a virus. Evidence: IEA. (OMIM:209920)
- Autosomal recessive inheritance (HP:0000007): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: TAS. (OMIM:209920)
- Cholangitis (HP:0030151): Inflammation of the biliary ductal system, affecting the intrahepatic or extrahepatic portions, or both. Evidence: IEA. (OMIM:209920)
- Recurrent viral infections (HP:0004429): Increased susceptibility to viral infections as manifested by recurrent episodes of viral infection. Evidence: TAS. (OMIM:209920)
- Recurrent upper respiratory tract infections (HP:0002788): An increased susceptibility to upper respiratory tract infections as manifested by a history of recurrent upper respiratory tract infections (running ears - otitis, sinusitis, pharyngitis, tonsillitis). Evidence: IEA. (OMIM:209920)
- Cutaneous anergy (HP:0002965): Inability to react to a delayed hypersensitivity skin test. Evidence: IEA. (OMIM:209920)
- Recurrent fungal infections (HP:0002841): Increased susceptibility to fungal infections as manifested by multiple episodes of fungal infection. Evidence: TAS. (OMIM:209920)
- Decreased total neutrophil count (HP:0001875): Abnormal decrease of absolute number of neutrophils in the blood, per microlitre, compared to a reference range for a given sex and age-group. Evidence: IEA. (OMIM:209920)
- Panhypogammaglobulinemia (HP:0003139): A reduction in the circulating levels of all the major classes of immunoglobulin. is characterized by profound decreases in all classes of immunoglobulin with an absence of circulating B lymphocytes. Evidence: TAS. (OMIM:209920)
These phenotypes are associated with the disease MHC class II deficiency 1 (OMIM:209920).