| 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:0000028 | Cryptorchidism | "Absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the testis." [HPO:curators] |
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| HP:0000286 | Epicanthus | "An epicanthal fold is a semilunar fold of skin that extends from the upper eyelid across the medial canthal area to the lower eyelid." [HPO:curators] |
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| HP:0000316 | Hypertelorism | |
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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:0000414 | Bulbous nose | |
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| HP:0000582 | Upslanting palpebral fissures | |
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| HP:0000653 | Sparse eyelashes | "Decreased density/number of eyelashes." [pmid:19125427] |
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| HP:0000954 | Transverse palmar creases | "The presence of a single palmar crease (instead of the two palmar creases that are typically present)." [HPO:curators] |
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| HP:0007651 | Mildly everted lower eyelids | |
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| HP:0009890 | High frontal hairline | "An abnormally high hairline (border between forehead and scalp hair)." [HPO:curators] |
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| HP:0010294 | Palate fistula | "A fistula which connects the oral cavity and the pharyngeal area via the aspects of the soft palate." [HPO:curators] |
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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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| HP:0012905 | Euryblepharon | "Euryblepharon is a congenital eyelid anomaly characterized by horizontal enlargement of the palpebral fissure. The eyelid is shortened vertically compared with the horizontal dimension, with associated lateral canthal malpositioning and lateral ectropion abnormally wide lid opening." [HPO:probinson, pmid:15249382, pmid:15530943, pmid:24719364] |
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| HP:0045075 | Sparse eyebrow | "Decreased density/number of eyebrow hairs." [HPO:skoehler] |
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| HP:0100271 | Hyponasal speech | "Hyponasal speech is when there is an abnormally reduced nasal airflow during speech often in a setting of nasal obstruction or congestion." [HPO:sdoelken] |
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| HP:0100336 | Bilateral cleft lip | |
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| HP:0100337 | Bilateral cleft palate | |
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| HP:0200153 | Agenesis of lateral incisor | |
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