| 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:0000725 | Psychotic episodes | |
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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:0000973 | Cutis laxa | |
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| HP:0000974 | Hyperextensible skin | |
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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:0001290 | Generalized hypotonia | "Generalized muscular hypotonia (abnormally low muscle tone)." [HPO:curators] |
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| HP:0001324 | Muscle weakness | "Reduced strength of muscles." [HPO:curators] |
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| HP:0001508 | Failure to thrive | |
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| HP:0001733 | Pancreatitis | |
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| HP:0001744 | Splenomegaly | "An abnormal enlargement of the spleen." [HPO:curators] |
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| HP:0001873 | Thrombocytopenia | |
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| HP:0001882 | Leukopenia | |
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| HP:0001903 | Anemia | |
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| HP:0001956 | Truncal obesity | "Obesity located preferentially in the trunk of the body as opposed to the extremities." [HPO:curators] |
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| HP:0001987 | Hyperammonemia | |
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| HP:0002013 | Vomiting | |
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| HP:0002014 | Diarrhea | |
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| HP:0002018 | Nausea | |
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| HP:0002093 | Respiratory insufficiency | |
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| HP:0002213 | Fine hair | |
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| HP:0002240 | Hepatomegaly | "An abnormal enlargment of the liver." [HPO:curators] |
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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:0002757 | Recurrent fractures | "The repeated occurence of bone fractures (implying an abnormally increased tendency for fracture)." [HPO:curators] |
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| HP:0003202 | Amyotrophy | "The presence of muscular atrophy (which is also known as amyotrophy)." [HPO:curators] |
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| HP:0003218 | Oroticaciduria | |
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| HP:0003281 | Increased serum ferritin | |
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| HP:0003355 | Abnormal urinary amino-acid findings | |
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| HP:0003593 | Early onset | |
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| HP:0003774 | End stage renal disease | |
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| HP:0003812 | Phenotypic variability | |
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| HP:0004322 | Decreased body height | "A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms)." [HPO:curators] |
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| HP:0004395 | Malnutrition | |
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| HP:0006517 | Congenital alveolar proteinosis | |
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| HP:0008070 | Sparse hair | |
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| HP:0012156 | Hemophagocytosis | "Phagocytosis by macrophages of erythrocytes, leukocytes, platelets, and their precursors in bone marrow and other tissues." [HPO:probinson] |
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| HP:0040223 | Intrapulmonary hemorrhage | "A hemorrhage occurring within the lung." [] |
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