- Recurrent infection of the gastrointestinal tract (HP:0004798): Recurrent infection of the gastrointestinal tract. Evidence: TAS. (OMIM:608184)
- Bronchiectasis (HP:0002110): Persistent abnormal dilatation of the bronchi owing to localized and irreversible destruction and widening of the large airways. Evidence: TAS. (OMIM:608184)
- Autoimmune hemolytic anemia (HP:0001890): An autoimmune form of hemolytic anemia. Evidence: IEA. (OMIM:608184)
- Absence of lymph node germinal center (HP:0002849): Absence of germinal centers in lymph nodes. Germinal centers are the parts of lymph nodes in which B lymphocytes proliferate, differentiate, mutate through somatic hypermutation and class switch during antibody responses. Evidence: IEA. (OMIM:608184)
- Impaired Ig class switch recombination (HP:0002959): An impairment of the class-switch recombination process that normally leads B lymphocytes to produce IgG, IgA, or IgE. Evidence: TAS. (OMIM:608184)
- Recurrent bacterial infections (HP:0002718): Increased susceptibility to bacterial infections as manifested by recurrent episodes of bacterial infection. Evidence: TAS. (OMIM:608184)
- 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: IEA. (OMIM:608184)
- Autoimmune thrombocytopenia (HP:0001973): The presence of thrombocytopenia in combination with detection of antiplatelet antibodies. Evidence: IEA. (OMIM:608184)
- 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:608184)
- Myelodysplasia (HP:0002863): Clonal hematopoietic stem cell disorders characterized by dysplasia (ineffective production) in one or more hematopoietic cell lineages, leading to anemia and cytopenia. Evidence: IEA. (OMIM:608184)
- 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. (OMIM:608184)
- Osteomyelitis (HP:0002754): Osteomyelitis is an inflammatory process accompanied by bone destruction and caused by an infecting microorganism. Evidence: IEA. (OMIM:608184)
These phenotypes are associated with the disease hyper-IgM syndrome type 4 (OMIM:608184).