| 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:0000069 | Abnormality of the ureters | "An abnormality of the ureters, the ductal organs that transport urine from the kidneys to the urinary bladder." [HPO:curators] |
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| HP:0000316 | Hypertelorism | |
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| HP:0000368 | Low-set, posteriorly rotated ears | |
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| HP:0000431 | Broad nasal bridge | "Increased horizontal dimension of the upper, bony part of the nose." [HPO:curators] |
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| HP:0000494 | Downward slanting palpebral fissures | |
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| HP:0000790 | Hematuria | "The presence of blood in the urine. Hematuria may be gross hematuria (visible to the naked eye) or microscopic hematuria (detected by dipstick or microscopic examination of the urine)." [HPO:curators] |
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| HP:0001263 | Developmental retardation | "A delay in the achievement of motor or mental milestones manifested prior to age 18 and generally associated with lifelong mental and/or physical impairments." [HPO:curators] |
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| HP:0001385 | Hip dysplasia | |
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| HP:0001508 | Failure to thrive | |
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| HP:0001629 | Ventricular septal defect | "A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum." [HPO:curators] |
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| HP:0001631 | Atrial septal defect | "Atrial septal defect (ASD) is a congenital heart defect that enables blood flow between the left and right atria via the interatrial septum. The three common types of ASD are sinus venosus defects, ostium secundum defects, and ostium primum defects." [HPO:curators] |
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| HP:0001643 | Patent ductus arteriosus | |
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| HP:0001744 | Splenomegaly | "An abnormal enlargement of the spleen." [HPO:curators] |
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| HP:0001903 | Anemia | |
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| HP:0002205 | Recurrent respiratory infections | |
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| HP:0003218 | Oroticaciduria | |
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| HP:0003267 | Orotidine-5-prime-phosphate decarboxylase defect | |
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| HP:0003339 | Anemia corrected by uridylic acid and cytidylic acid | |
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| HP:0003355 | Abnormal urinary amino-acid findings | |
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| HP:0003526 | Orotic acid crystalluria | |
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| HP:0004447 | Poikilocytosis | |
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| HP:0004826 | megaloblastic anemia unresponsive to vitamin b12 and folate | |
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| HP:0005435 | Impaired T cell function | |
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| HP:0008388 | Abnormality of the toenails | |
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| HP:0011273 | Anisocytosis | "Abnormally increased variability in the size of erythrocytes." [HPO:probinson] |
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