| HP:0000110 | Renal dysplasia | |
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| HP:0000126 | Hydronephrosis | |
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| HP:0000164 | Abnormality of the teeth | "Any abnormality of the primary (deciduous) or permanent teeth." [HPO:curators] |
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| HP:0000175 | Cleft palate | "Cleft palate is a developmental defect of the `palate` (FMA:54549) resulting from a failure of fusion of the palatine processes." [HPO:curators] |
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| HP:0000193 | Bifid uvula | "A split or cleft uvula." [HPO:curators] |
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| HP:0000248 | Brachycephaly | "Brachycephaly refers to a short, wide head, which is often caused by premature closure of both coronal sutures." [HPO:curators] |
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| HP:0000319 | Flat philtrum | |
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| HP:0000324 | Facial asymmetry | |
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| HP:0000341 | Narrow forehead | "An abnormally reduced side-to-side width of the forehead." [HPO:curators] |
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| HP:0000343 | Long philtrum | |
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| HP:0000358 | Posteriorly rotated ears | "A type of `abnormal location of the ears` (HP:0000357) in which the position of the ears is characterized by posterior rotation (the superior part of the ears is rotated towards the back of the head, and the inferior part of the ears towards the front)." [HPO:probinson] |
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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:0000414 | Bulbous nose | |
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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:0000448 | Prominent nose | |
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| HP:0000453 | Choanal atresia | "Absence or abnormal closure of the choana (the posterior nasal aperture)." [HPO:curators] |
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| HP:0000483 | Astigmatism | |
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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:0000518 | Cataract | "A cataract is an opacity or clouding that develops in the crystalline `lens` (FMA:58241) of the eye or in its `capsule` (FMA:58881)." [HPO:probinson] |
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| HP:0000540 | Hypermetropia | |
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| HP:0000545 | Myopia | |
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| HP:0000601 | Hypotelorism | |
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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:0000750 | Impaired language development | |
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| HP:0000960 | Sacral dimple | "A subtype of `skin dimples` (HP:0010781) presenting as an indentation in the skin of the intergluteal cleft ." [HPO:probinson] |
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| HP:0000998 | Hypertrichosis | "Hypertrichosis is increased hair growth that is abnormal in quantity or location." [HPO:curators] |
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| HP:0001182 | Tapered fingers | |
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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: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:0001290 | Generalized hypotonia | "Generalized muscular hypotonia (abnormally low muscle tone)." [HPO:curators] |
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| HP:0001305 | Dandy-Walker malformation | "A congenital brain malformation typically characterized by incomplete formation of the cerebellar vermis, dilation of the fourth ventricle, and enlargement of the posterior fossa. In layman s terms, Dandy Walker malformation is a cyst in the cerebellum (typically symmetrical) that is involved with the fourth ventricle. This may interfere with the body s ability to drain cerebrospinal fluid from the brain, resulting in hydrocephalus. Dandy Walker cysts are formed during early embryonic development, while the brain forms. The cyst in the cerebellum typically has several blood vessels running through it connecting to the brain, thereby prohibiting surgical removal." [HPO:curators] |
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| HP:0001321 | Cerebellar hypoplasia | |
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| HP:0001385 | Hip dysplasia | |
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| HP:0001388 | Joint laxity | |
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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:0001423 | X-linked dominant inheritance | "A mode of inheritance that is observed for dominant traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked dominant disorders tend to manifest very severely in affected males. The severity of manifestation in females may depend on the degree of skewed X inactivation." [HPO:curators] |
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| HP:0001631 | Atrial septal defect | "Atrial septal defect (ASD) is a congenital heart defect that enables blood flow between the left and right atria via the interatrial septum. The three common types of ASD are sinus venosus defects, ostium secundum defects, and ostium primum defects." [HPO:curators] |
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| HP:0001643 | Patent ductus arteriosus | |
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| HP:0001761 | Pes cavus | |
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| HP:0001773 | Short, broad feet | "Abnormally short and wide feet." [HPO:curators] |
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| HP:0002023 | Anal atresia | "Congenital absence of the anus, i.e., the opening at the bottom end of the intestinal tract." [HPO:curators] |
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| HP:0002079 | Hypoplasia of the corpus callosum | "Underdevelopment of the corpus callosum." [HPO:curators] |
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| HP:0002098 | Respiratory distress | |
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| HP:0002205 | Recurrent respiratory infections | |
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| HP:0002536 | Abnormal cortical gyration | "An abnormality of the gyri (i.e., the ridges) of the cerebral cortex of the brain." [HPO:curators] |
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| HP:0002650 | Scoliosis | "The presence of an abnormal lateral curvature of the spine." [HPO:curators] |
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| HP:0002827 | Dislocated hips | |
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| HP:0002926 | Abnormality of thyroid laboratory results | |
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| HP:0003812 | Phenotypic variability | |
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| HP:0004322 | Decreased body height | "A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms)." [HPO:curators] |
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| HP:0005280 | Depressed nasal root and bridge | |
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| HP:0011220 | Prominent forehead | "Forward prominence of the entire forehead, due to protrusion of the frontal bone." [pmid:19125436] |
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| HP:0011304 | Broad thumb | "Increased thumb width without increased dorso-ventral dimension." [pmid:19125433] |
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| HP:0011968 | Feeding difficulties | "Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it." [ISCA:eriggs] |
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| HP:0012745 | Short palpebral fissure | "Distance between the medial and lateral canthi is more than 2 SD below the mean for age (objective); or, apparently reduced length of the palpebral fissures." [pmid:19125427] |
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| HP:0012813 | Unilateral breast hypoplasia | "Underdevelopment of the breast on one side only." [HPO:probinson] |
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| HP:0100259 | Postaxial polydactyly | "A form of polydactyly in which the extra digit or digits are localized on the side of the fifth finger or fifth toe." [HPO:probinson] |
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| HP:0100559 | Lower limb asymmetry | |
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| HP:0200055 | Small hands | |
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