| 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:0000256 | Macrocephaly | "The presence of an abnormally large `skull` (FMA:46565)." [HPO:probinson] |
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| HP:0000303 | Mandibular prognathia | "Abnormal prominence of the chin related to an abnormally long mandible." [HPO:curators] |
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| HP:0000316 | Hypertelorism | |
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| HP:0000405 | Hearing loss, conductive | |
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| HP:0000407 | Hearing loss, sensorineural | "Hearing loss caused by damage or dysfunction of the auditory nerve (cranial nerve VIII)." [HPO:curators] |
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| HP:0000410 | Mixed hearing loss | |
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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:0000505 | Impaired vision | |
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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:0000692 | Misalignment of teeth | |
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| HP:0000925 | Abnormality of the vertebral column | "Any abnormality of the spine (vertebral column)." [HPO:curators] |
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| HP:0000934 | Chondrocalcinosis | |
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| HP:0000944 | Abnormality of the metaphyses | |
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| HP:0001250 | Seizures | "Seizures are an intermittent `abnormality of the central nervous system` (FMA:HP:0002011) due to a sudden, excessive, disorderly discharge of cerebral neurons and characterized clinically by some combination of disturbance of sensation, loss of consciousness, impairment of psychic function, or convulsive movements." [HPO:probinson] |
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| HP:0001373 | Joint dislocation | "Displacement or malalignment of joints." [HPO:curators] |
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| HP:0001376 | Decreased mobility of joints | |
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| HP:0001386 | Joint swelling | |
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| HP:0001739 | Abnormality of the nasopharynx | |
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| HP:0001742 | Nasal obstruction leading to mouth breathing | |
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| HP:0002644 | Abnormality of the pelvis | "An abnormality of the bony pelvis (pelvic girdle); which is a ring of bones connecting the vertebral column to the femurs." [HPO:curators] |
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| HP:0002652 | Skeletal dysplasia | |
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| HP:0002694 | Sclerotic skull base | |
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| HP:0002758 | Osteoarthritis | |
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| HP:0002829 | Arthralgia | |
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| HP:0003016 | Metaphyseal widening | "Abnormal widening of the metaphyseal regions of long bones." [HPO:curators] |
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| HP:0003040 | Arthropathy | |
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| HP:0003581 | Onset in adulthood | |
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| HP:0004407 | Bony paranasal bossing | |
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| HP:0004493 | Craniofacial hyperostosis | "Hyperostosis refers to a localized bone overgrowth process (as opposed to sclerosis, which refers to a generalized disturbance with increased bone density). This term is used for excessive growth of the craniofacial bones." [HPO:curators] |
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| HP:0004975 | Erlenmeyer flask deformity of the femurs | |
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| HP:0005017 | polyarticular chondrocalcinosis | |
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| HP:0005108 | Abnormality of the intervertebral disks | |
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| HP:0005280 | Depressed nasal root and bridge | |
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| HP:0005450 | Calvarial osteosclerosis | "An increase in bone density affecting the calvaria (roof of the skull)." [HPO:curators] |
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| HP:0006384 | Club-shaped distal femur | |
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| HP:0010628 | Facial muscle weakness | "A weakness of any or all of the muscles of the face of any etiology." [HPO:curators] |
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| HP:0011002 | Osteopetrosis | |
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| HP:0100593 | Calcification of cartilage | |
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