| 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:0000293 | Full cheeks | |
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| HP:0000311 | Round face | "An unusually round appearance of the face." [HPO:curators] |
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| HP:0000505 | Impaired vision | |
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| HP:0000520 | Proptosis | |
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| HP:0000529 | Progressive visual loss | |
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| HP:0000648 | Optic atrophy | |
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| HP:0000677 | Oligodontia | "The condition of missing over 6 teeth (Missing up to 6 teeth is referred to a hypodontia)." [HPO:curators] |
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| HP:0001065 | Striae distensae | "Thinned, erythematous, depressed bands of atrophic skin. Initially, striae appear as flattened and thinned, pinkish linear regions of the skin. Striae tend to enlarge in length and become reddish or purplish. Later, striae tend to appear as white, depressed bands that are parallel to the lines of skin tension. Striae distensae occur most often in areas that have been subject to distension such as the lower back, buttocks, thighs, breast, abdomen, and shoulders." [HPO:curators] |
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| HP:0001133 | Constricted visual fields | |
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| HP:0001138 | Optic neuropathy | |
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| HP:0001608 | Abnormality of the voice | "Any abnormality of the voice." [HPO:curators] |
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| HP:0002781 | Upper airway obstruction | |
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| HP:0002870 | Obstructive sleep apnea | "A condition characterized by obstruction of the airway and by pauses in breathing during sleep occurring many times during the night. Obstructive sleep apnea is related to a relaxation of muscle tone (which normally occurs during sleep) leading to partial collapse of the soft tissues in the airway with resultant obstruction of the air flow." [HPO:curators] |
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| HP:0006482 | Abnormality of dental morphology | |
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| HP:0007663 | Decreased central vision | |
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| HP:0008872 | Feeding problems in infancy | |
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| HP:0011463 | Childhood onset | "Onset of disease at the age of between 1 and 5 years." [DDD:hfirth] |
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| HP:0012062 | Bone cyst | "A fluid filled cavity that develops with a bone." [HPO:probinson] |
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| HP:0012802 | Broad jaw | "Bigonial distance (lower facial width) more than 2 SD above the mean (objective); or an apparently increased width of the lower jaw (mandible) when viewed from the front (subjective)." [HPO:probinson, pmid:19125436] |
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| HP:0030802 | Lower eyelid retraction | "Inferior malposition of the lower eyelid margin without eyelid eversion." [HPO:probinson, PMID:10946945] |
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| HP:0200056 | Macular scarring | |
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| HP:0200057 | Marcus Gunn pupil | |
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