- Antinuclear antibody positivity (HP:0003493): The presence of autoantibodies in the serum that react against nuclei or nuclear components. Evidence: PCS. Frequency: 2/3. (PMID:28368018)
- Cervical lymphadenopathy (HP:0025289): Enlarged lymph nodes in the neck. Evidence: PCS. Frequency: 1/3. (PMID:28368018)
- Infantile onset (HP:0003593): Onset of signs or symptoms of disease between 28 days to one year of life. Evidence: PCS. Frequency: 3/3. (PMID:28368018)
- Bloody diarrhea (HP:0025085): Passage of many stools containing blood. Evidence: PCS. Frequency: 1/3. (PMID:28368018)
- Subconjunctival hemorrhage (HP:0011896): Bleeding beneath the mucous membrane that lines the inner surface of the eyelid. Evidence: PCS. Frequency: 1/3. (PMID:28368018)
- Failure to thrive (HP:0001508): Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm. Evidence: IEA. (OMIM:617718)
- Recurrent infections (HP:0002719): Increased susceptibility to infections as manifested by repeated bouts of infection. Evidence: PCS. (PMID:28368018)
- Lymphadenopathy (HP:0002716): Enlargement (swelling) of a lymph node. Evidence: IEA. (OMIM:617718)
- Increased total lymphocyte count (HP:0100827): Increase in the number or proportion of lymphocytes in the blood. Evidence: IEA. (OMIM:617718)
- Recurrent pneumonia (HP:0006532): An increased susceptibility to pneumonia as manifested by a history of recurrent episodes of pneumonia. Evidence: PCS. Frequency: 1/3. (PMID:28368018)
- Blepharitis (HP:0000498): Inflammation of the eyelids. Evidence: PCS. Frequency: 1/3. (PMID:28368018)
- Vasculitis (HP:0002633): Inflammation of blood vessel. Evidence: IEA. (OMIM:617718)
- Elevated erythrocyte sedimentation rate (HP:0003565): An increased erythrocyte sedimentation rate (ESR). The ESR is a test that measures the distance that erythrocytes have fallen after one hour in a vertical column of anticoagulated blood under the influence of gravity. The ESR is a nonspecific finding. An elevation may indicate inflammation or may be caused by any condition that elevates fibrinogen. Evidence: IEA. (OMIM:617718)
- Meningitis (HP:0001287): Inflammation of the meninges. Evidence: PCS. Frequency: 1/3. (PMID:28368018)
- Colonic eosinophilia (HP:0031813): An excess of eosinophilic cells in colonic tissue, i.e., eosinophilic infiltration in the colon. Evidence: PCS. Frequency: 1/3. (PMID:28368018)
- Inflammation of the large intestine (HP:0002037): Inflammation, or an inflammatory state in the large intestine. Evidence: PCS. Frequency: 1/3. (PMID:28368018)
- Hematochezia (HP:0002573): The passage of fresh (red) blood per anus, usually in or with stools. Most rectal bleeding comes from the colon, rectum, or anus. Evidence: PCS. Frequency: 1/3. (PMID:28368018)
- Vasculitis in the skin (HP:0200029): A type of vasculitis (inflammation of blood vessel walls) that affects skeletal muscle tissue. Evidence: PCS. Frequency: 1/3. (PMID:28368018)
- Elevated circulating C-reactive protein concentration (HP:0011227): The concentration of C-reactive protein in the blood circulation is above the upper limit of normal. Evidence: PCS. Frequency: 1/3. (PMID:28368018)
- Perinuclear antineutrophil antibody positivity (HP:0032229): The presence of autoantibodies in the serum that react against proteins predominantly expressed in perinuclear region of neutrophils. Evidence: PCS. Frequency: 3/3. (PMID:28368018)
- Cellulitis (HP:0100658): A bacterial infection and inflammation of the skin und subcutaneous tissues. Evidence: PCS. Frequency: 1/3. (PMID:28368018)
- 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: PCS. (PMID:28368018)
- Skin rash (HP:0000988): A red eruption of the skin. Evidence: PCS. Frequency: 3/3. (PMID:28368018)
- Thrombocytopenia (HP:0001873): A reduction in the number of circulating thrombocytes. Evidence: PCS. Frequency: 1/3. (PMID:28368018)
- Decreased mean platelet volume (HP:0005537): Average platelet volume below the lower limit of the normal reference interval. Evidence: IEA. (OMIM:617718)
These phenotypes are associated with the disease platelet abnormalities with eosinophilia and immune-mediated inflammatory disease (OMIM:617718).