HP:0000006 | Autosomal dominant 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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators] |
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HP:0000238 | Hydrocephalus | |
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HP:0000262 | Turricephaly | "Turricephaly is derived from the Latin word turris, meaning tall, and refers to a round, tall (tower-like) skull." [HPO:curators] |
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HP:0000347 | Mandibular hypoplasia | "Underdevelopment of the mandible." [HPO:curators] |
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HP:0000494 | Downward slanting palpebral fissures | |
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HP:0000520 | Proptosis | |
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HP:0000586 | Shallow orbits | |
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HP:0000592 | Blue sclerae | |
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HP:0000682 | Abnormality of dental enamel | "An abnormality of the dental enamel, which is the external layer of the teeth, being a highly mineralized substance consisting primarily of hydroxylapatite." [HPO:curators] |
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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:0000772 | Abnormality of the ribs | |
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HP:0000938 | Osteopenia | "Osteopenia refers to a reduction in bone mineral density (BMD) below normal peak BMD but not low enough to be classified as osteoporosis. According to the WHO, osteopenia is characterized by a value of BMD more than 1 standard deviation below the young adult mean, but less than 2 standard deviations below this value." [HPO:curators] |
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HP:0000944 | Abnormality of the metaphyses | |
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HP:0001252 | Muscular hypotonia | "Muscular hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle), often involving reduced muscle strength. Hypotonia is characterized by a diminished resistance to passive stretching." [HPO:curators] |
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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:0001334 | Communicating hydrocephalus | |
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HP:0001511 | Intrauterine growth retardation | |
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HP:0001608 | Abnormality of the voice | "Any abnormality of the voice." [HPO:curators] |
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HP:0001620 | High pitched voice | |
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HP:0002007 | Frontal bossing | "The presence of an unusually prominent forehead." [HPO:curators] |
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HP:0002645 | Wormian bones | |
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HP:0002650 | Scoliosis | "The presence of an abnormal lateral curvature of the spine." [HPO:curators] |
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HP:0002652 | Skeletal dysplasia | |
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HP:0002757 | Recurrent fractures | "The repeated occurence of bone fractures (implying an abnormally increased tendency for fracture)." [HPO:curators] |
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HP:0002808 | Kyphosis | |
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HP:0002953 | Vertebral compression fractures | |
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HP:0003312 | Abnormal form of the vertebral bodies | |
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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:0004440 | Coronal craniosynostosis | |
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HP:0005472 | Orbital craniosynostosis | |
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HP:0005692 | Joint hyperflexibility | |
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HP:0006367 | Broad crumpled long bones | |
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HP:0006487 | Bowing of the long bones | |
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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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