| 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:0000274 | Small face | |
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| HP:0000347 | Mandibular hypoplasia | "Underdevelopment of the mandible." [HPO:curators] |
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| HP:0000348 | High forehead | "An abnormally increased height of the forehead." [HPO:curators] |
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| HP:0000457 | Flat nose | |
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| HP:0000592 | Blue sclerae | |
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| HP:0000684 | Delayed dentition | "Delayed eruption of teeth." [HPO:curators] |
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| HP:0000691 | Microdontia | |
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| HP:0000823 | Delayed puberty | |
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| HP:0000966 | Hypohidrosis | "Abnormally diminished capacity to sweat." [HPO:curators] |
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| HP:0001156 | Brachydactyly | |
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| HP:0001249 | Mental retardation | |
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| HP:0001270 | Motor retardation | |
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| HP:0001367 | Abnormality of the joints | "An abnormality of the joints, i.e., of the articulations where two bones join." [HPO:curators] |
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| HP:0001620 | High pitched voice | |
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| HP:0001831 | Brachydactyly (feet) | |
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| HP:0001939 | Metabolism abnormality | |
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| HP:0001943 | Hypoglycemia | "A lower than normal level of blood glucose." [HPO:curators] |
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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:0001999 | Facial dysmorphism | |
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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:0002758 | Osteoarthritis | |
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| HP:0003026 | Short long bones | |
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| HP:0003124 | Hypercholesterolemia | |
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| HP:0003510 | Short stature, severe | "A severe degree of short stature." [HPO:curators] |
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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:0005281 | Hypoplastic nasal bridge | |
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| HP:0007495 | Prematurely aged appearance | |
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| HP:0008736 | Hypoplasia of penis | |
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| HP:0009804 | Reduced number of teeth | |
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| HP:0009811 | Abnormality of the elbow | |
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| HP:0009891 | Hypoplasia of the supraorbital ridges | "Underdevelopment of the supraorbital ridges." [HPO:curators] |
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| HP:0009924 | Aplasia/Hypoplasia involving the nose | "Underdevelopment or absence of the nose or parts thereof." [HPO:curators] |
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| HP:0011800 | Midface retrusion | "Posterior positions and/or vertical shortening of the infraorbital and perialar regions, or increased concavity of the face and/or reduced nasolabial angle." [DDD:jclayton-smith] |
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| HP:0012569 | Delayed menarche | "First period after the age of 15 years." [HPO:probinson] |
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| HP:0030353 | Decreased serum insulin-like growth factor 1 | "A reduced level of insulin-like growth factor 1 (IGF1) in the blood circulation." [HPO:probinson] |
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