| HP:0000007 | Autosomal recessive inheritance | "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 homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators] |
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| HP:0000248 | Brachycephaly | "Brachycephaly refers to a short, wide head, which is often caused by premature closure of both coronal sutures." [HPO:curators] |
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| HP:0000389 | Chronic otitis media | |
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| HP:0000979 | Purpura | |
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| HP:0001531 | Failure to thrive in infancy | |
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| HP:0001744 | Splenomegaly | "An abnormal enlargement of the spleen." [HPO:curators] |
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| HP:0001878 | Hemolytic anemia | |
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| HP:0001888 | Lymphopenia | |
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| HP:0001973 | Immune thrombocytopenia | |
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| HP:0002023 | Anal atresia | "Congenital absence of the anus, i.e., the opening at the bottom end of the intestinal tract." [HPO:curators] |
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| HP:0002090 | Pneumonia | |
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| HP:0002091 | Restrictive lung disease | |
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| HP:0002097 | Emphysema | |
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| HP:0002110 | Bronchiectasis | |
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| HP:0002205 | Recurrent respiratory infections | |
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| HP:0002633 | Vasculitis | |
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| HP:0002665 | Lymphoma | "A cancer originating in lymphocytes and presenting as a solid tumor of lymhpoid cells." [HPO:curators] |
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| HP:0002716 | Lymphadenopathy | |
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| HP:0002718 | Recurrent bacterial infections | |
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| HP:0002721 | Immunodeficiency | |
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| HP:0002829 | Arthralgia | |
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| HP:0002837 | Bronchitis | |
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| HP:0002910 | Elevated transaminases | "Elevations of the levels of SGOT and SGPT in the serum. SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage." [HPO:curators] |
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| HP:0004313 | Reduced immunoglobulin levels | |
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| HP:0006783 | Posterior pharyngeal cleft | |
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| HP:0100723 | Gastrointestinal stroma tumor | |
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