| 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:0000233 | Thin vermillion border | |
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| HP:0000311 | Round face | "An unusually round appearance of the face." [HPO:curators] |
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| HP:0000470 | Short neck | |
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| HP:0000772 | Abnormality of the ribs | |
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| HP:0000773 | Short ribs | |
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| HP:0000926 | Platyspondyly | |
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| HP:0001288 | Gait disturbance | "The term gait disturbance can refer to any disruption of the ability to walk. In general, this can refer to neurological diseases but also fractures or other sources of pain that is triggered upon walking. However, in the current context gait disturbance refers to difficulty walking on the basis of a neurological or muscular disease." [HPO:curators] |
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| HP:0001388 | Joint laxity | |
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| HP:0001591 | Bell-shaped chest | |
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| HP:0001744 | Splenomegaly | "An abnormal enlargement of the spleen." [HPO:curators] |
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| HP:0002240 | Hepatomegaly | "An abnormal enlargment of the liver." [HPO:curators] |
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| HP:0002645 | Wormian bones | |
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| HP:0002651 | Spondyloepimetaphyseal dysplasia | |
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| HP:0002663 | Late ossifying epiphyses | |
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| HP:0002812 | Coxa vara | |
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| HP:0002938 | Lumbar hyperlordosis | |
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| HP:0002970 | Genu varum | |
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| HP:0002983 | Micromelia | |
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| HP:0003015 | Metaphyseal flaring | "The presence of splayed (i.e.,flared) metaphyseal segments of the long bones." [HPO:curators] |
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| HP:0003016 | Metaphyseal widening | "Abnormal widening of the metaphyseal regions of long bones." [HPO:curators] |
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| HP:0003025 | Irregular metaphyses | |
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| HP:0003097 | Short femur | "An abnormal shortening of the thigh bones." [HPO:curators] |
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| HP:0003099 | Fibular overgrowth | |
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| HP:0003180 | Flat acetabular roofs | |
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| HP:0003270 | Abdominal distention | "Enlargement or distention of the abdomen, which can be a secondary feature associated with a number of conditions such as bowel obstruction." [HPO:curators] |
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| HP:0003375 | Narrow greater sacrosciatic notches | "A narrowing of the sacrosciatic notch, i.e., the deep indentation in the posterior border of the hip bone at the point of union of the ilium and ischium." [HPO:curators] |
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| HP:0003498 | Short stature, disproportionate | |
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| HP:0003510 | Short stature, severe | "A severe degree of short stature." [HPO:curators] |
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| HP:0004298 | Abnormality of the abdominal wall | "The presence of any abnormality affecting the abdominal wall." [HPO:curators] |
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| HP:0005280 | Depressed nasal root and bridge | |
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| HP:0005692 | Joint hyperflexibility | |
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| HP:0005930 | Abnormality of the epiphyses | |
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| HP:0008417 | Vertebral hypoplasia | |
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| HP:0008450 | Narrow vertebral interpedicular distance | "A narrowing of the distance between vertebral pedicles, which are the two short, thick processes, which project backward, one on either side, from the upper part of the verterbral body, at the junction of its posterior and lateral surfaces." [HPO:curators] |
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| HP:0008463 | Central vertebral hypoplasia | |
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| HP:0009826 | Hypoplasia involving bones of the extremities | |
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| HP:0010306 | Short thorax | "Reduced inferior to superior extent of the thorax." [HPO:curators] |
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| HP:0010656 | Abnormality of the mineralisation or ossification of the epiphyses | "Abnormal mineralisation/calicfication and ossification affecting the epiphyses." [HPO:curators] |
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| HP:0100864 | Hypoplasia of the femoral neck | |
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| HP:0100866 | Short iliac bones | |
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