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:0000268 | Dolichocephaly | |
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HP:0000269 | Prominent occiput | |
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HP:0000343 | Long philtrum | |
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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:0000773 | Short ribs | |
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HP:0000888 | Short, horizontal ribs | |
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HP:0000946 | Hypoplastic ilia | |
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HP:0001290 | Generalized hypotonia | "Generalized muscular hypotonia (abnormally low muscle tone)." [HPO:curators] |
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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:0002089 | Pulmonary hypoplasia | |
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HP:0002098 | Respiratory distress | |
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HP:0002878 | Early respiratory failure | |
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HP:0002983 | Micromelia | |
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HP:0002984 | Hypoplasia of the radius | "Underdevelopment of the radius." [HPO:curators] |
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HP:0004482 | Relative macrocephaly | "A relatively mild degree of macrocephaly in which the head circumference is not above two standard deviations from the mean, but appears dysproportionately large when other factors such as body stature are taken into account." [HPO:curators] |
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HP:0005257 | Thoracic hypoplasia | |
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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:0100259 | Postaxial polydactyly | "A form of polydactyly in which the extra digit or digits are localized on the side of the fifth finger or fifth toe." [HPO:probinson] |
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