| 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:0000010 | Recurrent urinary tract infections | "Repeated infections of the urinary tract." [HPO:curators] |
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| HP:0000246 | Sinusitis | |
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| HP:0000388 | Otitis media | |
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| HP:0000708 | Behavioural/Psychiatric Abnormality | |
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| HP:0001249 | Mental retardation | |
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| HP:0001251 | Ataxia | "Ataxia is a nonspecific neurological sign and symptom consisting of gross lack of coordination of muscle movements. Ataxia is caused by dysfunction of one or more parts of the nervous system including the cerebellum, the sensory nervous system, the vestibular system, or the cerebral cortex." [HPO:curators] |
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| HP:0001252 | Muscular hypotonia | "Muscular hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle), often involving reduced muscle strength. Hypotonia is characterized by a diminished resistance to passive stretching." [HPO:curators] |
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| HP:0001264 | Spastic diplegia | "Spasticity (neuromuscular hypertonia) primarily in the muscles of the legs, hips, and pelvis." [HPO:curators] |
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| HP:0001270 | Motor retardation | |
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| HP:0001290 | Generalized hypotonia | "Generalized muscular hypotonia (abnormally low muscle tone)." [HPO:curators] |
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| HP:0001337 | Tremor | "An unintentional, oscillating to-and-fro muscle movement." [HPO:curators] |
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| HP:0001508 | Failure to thrive | |
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| HP:0001744 | Splenomegaly | "An abnormal enlargement of the spleen." [HPO:curators] |
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| HP:0001888 | Lymphopenia | |
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| HP:0001890 | Autoimmune hemolytic anemia | |
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| HP:0001904 | Autoimmune neutropenia | |
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| HP:0001973 | Immune thrombocytopenia | |
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| HP:0002090 | Pneumonia | |
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| HP:0002273 | Tetraparesis | |
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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:0002718 | Recurrent bacterial infections | |
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| HP:0002732 | Small lymph nodes | |
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| HP:0002783 | Recurrent lower respiratory tract infections | |
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| HP:0002788 | Recurrent upper respiratory tract infections | |
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| HP:0003537 | Hypouricemia | "An abnormally low level of uric acid in the blood." [HPO:curators] |
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| HP:0004429 | Recurrent viral infections | |
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| HP:0005318 | Cerebral vasculitis | |
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| HP:0005372 | Abnormal B cell function | |
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| HP:0005390 | Frequent bacterial, viral, and opportunistic infections | |
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| HP:0005435 | Impaired T cell function | |
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