| HP:0000054 | Micropenis | |
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| HP:0000154 | Wide mouth | "Abnormally wide mouth." [HPO:curators] |
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| HP:0000233 | Thin vermillion border | |
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| HP:0000256 | Macrocephaly | "The presence of an abnormally large `skull` (FMA:46565)." [HPO:probinson] |
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| HP:0000272 | Malar hypoplasia | "Underdeveloped midface region." [HPO:curators] |
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| HP:0000283 | Broad face | |
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| HP:0000336 | Prominent supraorbital ridges | "Abnormal prominence of the supraorbital ridges, which are bony ridge located above the eye sockets in the area of the eyebrows." [HPO:curators] |
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| HP:0000470 | Short neck | |
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| HP:0000475 | Broad neck | |
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| HP:0000490 | Deep set eyes | |
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| HP:0000582 | Upslanting palpebral fissures | |
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| HP:0000664 | Synophrys | "Fusion of the left and right `eyebrow` (FMA:54237)." [HPO:probinson] |
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| HP:0000718 | Aggressive behavior | "Aggressive behavior can denote verbal aggression, physical aggression against objects, physical aggression against people, and may also include aggression towards oneself." [HPO:curators] |
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| HP:0000958 | Dry skin | |
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| HP:0001007 | Hirsutism | "Abnormally increased hair growth." [HPO:curators] |
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| HP:0001249 | Mental retardation | |
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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:0001419 | X-linked recessive inheritance | "A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele." [HPO:curators] |
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| HP:0001763 | Pes planus | "A condition in which the arch of the foot is flat, with the entire sole of the foot being in near-complete contact with the ground." [HPO:curators] |
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| HP:0001773 | Short, broad feet | "Abnormally short and wide feet." [HPO:curators] |
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| HP:0002162 | Low posterior hairline | |
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| HP:0002164 | Nail dysplasia | |
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| HP:0002465 | Poor speech | |
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| HP:0002714 | Downturned corners of mouth | "A morphological `abnormality of the mouth` (HP:0000153) in which the `angle of the mouth` (FMA:77269) is downturned." [HPO:probinson] |
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| HP:0004324 | Increased body weight | |
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| HP:0005280 | Depressed nasal root and bridge | |
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| HP:0005590 | Spotty hypopigmentation | |
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| HP:0006610 | Wide intermamillary distance | |
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| HP:0007103 | Hypodensity of cerebral white matter on MRI | |
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| HP:0007874 | Almond-shaped palpebral fissures | |
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| HP:0008404 | Nail dystrophy, variable | |
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| HP:0010055 | Broad hallux | |
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| HP:0010529 | Echolalia | "The tendency to repeat vocalizations made by another person." [HPO:curators] |
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| HP:0010721 | Abnormal hair whorl | "An abnormal hair whorl (that is, a patch of hair growing in the opposite direction of the rest of the hair)." [HPO:probinson] |
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| HP:0011356 | Regional abnormality of skin | "An abnormality of the skin that is restricted to a particular body region." [DDD:cmoss] |
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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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