| 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:0000505 | Impaired vision | |
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| HP:0000614 | Abnormality of the lacrimal duct | |
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| HP:0000820 | Abnormality of the thyroid gland | |
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| HP:0000939 | Osteoporosis | "Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility. According to the WHO, osteoporosis is characterized by a value of BMD 2.5 standard deviations or more below the young adult mean." [HPO:curators] |
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| HP:0000975 | Hyperhidrosis | "An abnormally increased perspiration." [HPO:probinson] |
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| HP:0001510 | Growth retardation | |
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| HP:0001824 | Weight loss | |
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| HP:0001903 | Anemia | |
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| HP:0001945 | Fever | |
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| HP:0002017 | Nausea and vomiting | |
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| HP:0002019 | Constipation | |
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| HP:0002027 | Abdominal pain | |
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| HP:0002113 | Pulmonary infiltrates | |
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| HP:0002205 | Recurrent respiratory infections | |
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| HP:0002718 | Recurrent bacterial infections | |
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| HP:0002721 | Immunodeficiency | |
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| HP:0002750 | Delayed skeletal maturation | "A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body." [HPO:curators] |
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| HP:0004429 | Recurrent viral infections | |
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| HP:0012123 | Posterior uveitis | "Inflammation of the uveal tract in which the primary site of inflammation is the retina or choroid." [HPO:probinson] |
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| HP:0012191 | B-cell lymphoma | "A type of lymphoma that originates in B-cells." [HPO:probinson] |
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| HP:0012378 | Fatigue | "A subjective feeling of tiredness characterized by a lack of energy and motivation." [HPO:probinson] |
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| HP:0100721 | Mediastinal lymphadenopathy | |
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