| 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:0000083 | Renal failure | |
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| HP:0000092 | Tubular atrophy | |
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| HP:0000093 | Proteinuria | |
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| HP:0000097 | Focal segmental glomerulosclerosis | |
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| HP:0000100 | Nephrotic syndrome | |
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| HP:0000160 | Microstomia | "The presence of an abnormally small `mouth` (FMA:49184)." [HPO:curators] |
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| HP:0000252 | Microcephaly | "Microcephaly is a neurodevelopmental disorder in which the circumference of the head is more than two standard deviations smaller than the age- and gender-dependent norm." [HPO:curators] |
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| HP:0000311 | Round face | "An unusually round appearance of the face." [HPO:curators] |
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| HP:0000316 | Hypertelorism | |
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| HP:0000400 | Large ears | |
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| HP:0000535 | Sparse eyebrows | |
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| HP:0000653 | Sparse eyelashes | "Decreased density/number of eyelashes." [pmid:19125427] |
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| HP:0000771 | Gynecomastia | |
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| HP:0000774 | Narrow chest | |
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| HP:0001030 | Fragile skin | |
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| HP:0002098 | Respiratory distress | |
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| HP:0002205 | Recurrent respiratory infections | |
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| HP:0002209 | Sparse scalp hair | "Sparseness of the `head hair` (FMA:54241)." [HPO:probinson] |
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| HP:0002213 | Fine hair | |
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| HP:0002643 | Neonatal respiratory distress | |
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| HP:0003073 | Hypoalbuminemia | "Reduction in the concentration of albumin in the blood." [HPO:curators] |
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| HP:0003812 | Phenotypic variability | |
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| HP:0005972 | Respiratory acidosis | |
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| HP:0006530 | Interstitial pulmonary disease | |
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| HP:0008066 | Abnormal blistering of the skin | |
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| HP:0008404 | Nail dystrophy, variable | |
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| HP:0011220 | Prominent forehead | "Forward prominence of the entire forehead, due to protrusion of the frontal bone." [pmid:19125436] |
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| HP:0012213 | Decreased glomerular filtration rate | "An abnormal reduction in the volume of water filtered out of plasma through glomerular capillary walls into Bowman s capsules per unit of time." [HP:probinson] |
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