| HP:0000078 | Abnormality of the genital tract | |
Show
|
| HP:0000079 | Abnormality of the urinary tract | |
Show
|
| 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] |
Show
|
| HP:0000179 | Prominent lower lip | "Increased thickness of the lower lip, leading to a prominent appearance of the lower lip." [HPO:curators] |
Show
|
| HP:0000347 | Mandibular hypoplasia | "Underdevelopment of the mandible." [HPO:curators] |
Show
|
| HP:0000405 | Hearing loss, conductive | |
Show
|
| HP:0000457 | Flat nose | |
Show
|
| HP:0000494 | Downward slanting palpebral fissures | |
Show
|
| HP:0000823 | Delayed puberty | |
Show
|
| HP:0000980 | Pallor | |
Show
|
| HP:0001155 | Abnormality of the hand | "An abnormality affecting one or both hands." [HPO:curators] |
Show
|
| 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] |
Show
|
| HP:0001972 | Macrocytic anemia | |
Show
|
| HP:0002076 | Migraine | |
Show
|
| HP:0002488 | Acute leukemia | |
Show
|
| HP:0003196 | Nasal hypoplasia | "Underdevelopment of the `nose` (FMA:46472)." [HPO:probinson] |
Show
|
| 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] |
Show
|
| HP:0008551 | Underdeveloped ears | |
Show
|
| HP:0011675 | Arrhythmia | "Any cardiac rhythm other than the normal sinus rhythm. Such a rhythm may be either of sinus or ectopic origin and either regular or irregular. An arrhythmia may be due to a disturbance in impulse formation or conduction or both." [DDD:dbrown, pmid:19063792] |
Show
|
| 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] |
Show
|
| HP:0012378 | Fatigue | "A subjective feeling of tiredness characterized by a lack of energy and motivation." [HPO:probinson] |
Show
|
