| 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:0000248 | Brachycephaly | "Brachycephaly refers to a short, wide head, which is often caused by premature closure of both coronal sutures." [HPO:curators] |
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| HP:0000286 | Epicanthus | "An epicanthal fold is a semilunar fold of skin that extends from the upper eyelid across the medial canthal area to the lower eyelid." [HPO:curators] |
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| HP:0000307 | Pointed chin | |
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| HP:0000319 | Flat philtrum | |
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| HP:0000325 | Triangular facies | |
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| HP:0000331 | Small chin | |
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| HP:0000343 | Long philtrum | |
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| HP:0000358 | Posteriorly rotated ears | "A type of `abnormal location of the ears` (HP:0000357) in which the position of the ears is characterized by posterior rotation (the superior part of the ears is rotated towards the back of the head, and the inferior part of the ears towards the front)." [HPO:probinson] |
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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:0000431 | Broad nasal bridge | "Increased horizontal dimension of the upper, bony part of the nose." [HPO:curators] |
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| HP:0000455 | Broad nasal tip | |
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| HP:0000494 | Downward slanting palpebral fissures | |
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| HP:0000506 | Telecanthus | "An abnormally increased distance between the medial canthi (angle between eyelids) of the eyelids." [HPO:curators] |
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| HP:0001249 | Mental retardation | |
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| HP:0001572 | Macrodontia | "Increased size of one or more teeth." [HPO:curators] |
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| HP:0002705 | High, narrow palate | "The presence of a high and narrow palate." [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:0004325 | Decreased body weight | |
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| HP:0005280 | Depressed nasal root and bridge | |
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| HP:0006191 | Deep palmar creases | "An increased depth of the palmar creases." [HPO:curators] |
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| HP:0007413 | Nevus flammeus of the forehead | "`Naevus flammeus` (HP:0001052) localised in the skin of the forehead." [HPO:sdoelken] |
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| HP:0025300 | Malar rash | "An erythematous (red), flat facial rash that affects the skin in the maler area (over the cheekbones) and extends over thebridge of the nose." [] |
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| HP:0040195 | Decreased head circumference | |
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| HP:0200055 | Small hands | |
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