| 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:0000239 | Large fontanelles | "In newborns, the two frontal bones, two parietal bones, and one occipital bone are joined by fibrous sutures, which form a small posterior fontanelle, and a larger, diamond-shaped anterior fontanelle. These regions allow for the skull to pass the birth canal and for later growth. The fontanelles gradually ossify, whereby the posterior fontanelle usually closes by eight weeks and the anterior fontanelle by the 9th to 16th month of age. Large fontanelles are diagnosed if the fontanelles are larger than age-dependent norms." [HPO:curators] |
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| HP:0000311 | Round face | "An unusually round appearance of the face." [HPO:curators] |
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| HP:0000369 | Low-set ears | "Low-set ears are defined to be set below an arbitrary line drawn between the lateral canthus of the eye and the occipital protruberance." [HPO:curators] |
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| HP:0000445 | Broad nose | |
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| HP:0000463 | Nares, anteverted | "Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the eyes of the subject." [pmid:19152422] |
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| HP:0000470 | Short neck | |
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| HP:0000773 | Short ribs | |
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| HP:0000774 | Narrow chest | |
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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:0001518 | Low birth weight | |
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| HP:0001591 | Bell-shaped chest | |
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| HP:0001640 | Cardiomegaly | |
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| HP:0002002 | Deep philtrum | |
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| HP:0002007 | Frontal bossing | "The presence of an unusually prominent forehead." [HPO:curators] |
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| HP:0002092 | Pulmonary hypertension | |
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| HP:0002645 | Wormian bones | |
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| HP:0002657 | Spondylometaphyseal dysplasia | |
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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:0002789 | Tachypnea | |
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| HP:0002983 | Micromelia | |
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| HP:0003021 | Metaphyseal cupping | "Metaphyseal cupping refers to an inward bulging of the metaphyseal profile giving the metaphysis a cup-like appearance." [HPO:curators] |
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| HP:0003026 | Short long bones | |
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| HP:0003175 | Hypoplastic ischia | |
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| HP:0003177 | Square iliac bones | |
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| HP:0003196 | Nasal hypoplasia | "Underdevelopment of the `nose` (FMA:46472)." [HPO:probinson] |
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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:0004565 | severe platyspondyly | |
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| HP:0005280 | Depressed nasal root and bridge | |
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| HP:0008551 | Underdeveloped ears | |
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| HP:0008786 | Irregular, lacy iliac crests | "Lace-like irregularity of the iliac crest." [HPO:curators] |
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| HP:0008936 | Muscular hypotonia of the trunk | "Muscular hypotonia (abnormally low muscle tone) affecting the musculature of the trunk." [HPO:curators] |
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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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