| 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:0000207 | Triangular mouth | |
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| HP:0000232 | Everted lower lip | |
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| HP:0000269 | Prominent occiput | |
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| HP:0000272 | Malar hypoplasia | "Underdeveloped midface region." [HPO:curators] |
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| HP:0000316 | Hypertelorism | |
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| HP:0000322 | Short philtrum | |
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| HP:0000337 | Broad forehead | "Abnormally large side-to-side distance of the forehead." [HPO:curators] |
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| HP:0000365 | Hearing loss | |
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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:0000411 | Protruding ears | |
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| HP:0000455 | Broad nasal tip | |
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| HP:0000457 | Flat nose | |
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| HP:0000486 | Strabismus | "Strabismus (also known as squint) is a condition in which the eyes are not properly aligned with each other." [HPO:curators] |
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| HP:0000494 | Downward slanting palpebral fissures | |
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| HP:0000508 | Ptosis | "Drooping of the eyelid." [HPO:curators] |
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| HP:0000545 | Myopia | |
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| HP:0000574 | Thick eyebrows | |
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| HP:0001256 | Mental retardation, mild | "Mild mental retardation is defined as an intelligence quotient (IQ) in the range of 50-69." [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: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:0001643 | Patent ductus arteriosus | |
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| HP:0001770 | Toe syndactyly | "Webbing or fusion of the toes, involving soft parts only or including bone structure. Bony fusions are revered to as "bony" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the toes in a proximo-distal axis are refered to as "Symphalangism"." [HPO:curators] |
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| HP:0002360 | Sleep disturbances | "An abnormality of sleep including such phenomena as 1) insomnia/hypersomnia, 2) non-restorative sleep, 3) sleep schedule disorder, 4) excessive daytime somnolence, 5) sleep apnea, and 6) restlessness." [HPO:curators] |
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| HP:0002553 | Arched eyebrows | |
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| HP:0002558 | Supernumerary nipples | |
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| HP:0004209 | Clinodactyly of the 5th finger | "Clinodactyly refers to a bending or curvature of the `fifth finger` (FMA:24949) in the radial direction (i.e., towards the 4th finger)." [HPO:curators] |
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| HP:0004218 | Symphalangism of the 5th finger | "Fusion of two or more bones of the 5th finger." [HPO:curators] |
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| HP:0004220 | Hypoplastic/small middle phalanx of the 5th finger | "Absence or underdevelopment (hypoplasia) of the middle phalanx of the little (5th) finger." [HPO:curators] |
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| HP:0005280 | Depressed nasal root and bridge | |
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| HP:0006159 | Central polydactyly (hands) | |
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| HP:0006335 | Delayed loss of deciduous teeth | |
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| HP:0008498 | No permanent dentition | |
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| HP:0009244 | Symphalangism affecting the distal phalanx of the 5th finger | "Fusion of the distal phalanx of the 5th finger with another bone." [HPO:curators] |
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| HP:0010112 | Central polydactyly (feet) | |
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| HP:0012471 | Thick vermilion border | "Increased width of the "skin of vermilion border region of upper lip" (FMA:312645)." [HPO:probinson] |
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| HP:0025234 | Parasomnia | "An undesirable physical event or experience that occur during entry into sleep, during sleep, or during arousal from sleep." [PMID:27647645] |
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