| Rank (Similarity) |
PMID (PMCID) |
|---|
|
|
Total: 28
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000028 | Cryptorchidism | Very frequent (99-80%) |
| HP:0000219 | Thin upper lip vermilion | Very frequent (99-80%) |
| HP:0000336 | Prominent supraorbital ridges | Very frequent (99-80%) |
| HP:0000347 | Micrognathia | Very frequent (99-80%) |
| HP:0000455 | Broad nasal tip | Very frequent (99-80%) |
| HP:0000490 | Deeply set eye | Very frequent (99-80%) |
| HP:0000574 | Thick eyebrow | Very frequent (99-80%) |
| HP:0000712 | Emotional lability | Very frequent (99-80%) |
| HP:0000771 | Gynecomastia | Very frequent (99-80%) |
| HP:0001182 | Tapered finger | Very frequent (99-80%) |
| HP:0001249 | Intellectual disability | Very frequent (99-80%) |
| HP:0001263 | Global developmental delay | Very frequent (99-80%) |
| HP:0001761 | Pes cavus | Very frequent (99-80%) |
| HP:0001763 | Pes planus | Very frequent (99-80%) |
| HP:0001773 | Short foot | Very frequent (99-80%) |
| HP:0001956 | Truncal obesity | Very frequent (99-80%) |
| HP:0001999 | Abnormal facial shape | Very frequent (99-80%) |
| HP:0002465 | Poor speech | Very frequent (99-80%) |
| HP:0004322 | Short stature | Very frequent (99-80%) |
| HP:0008551 | Microtia | Very frequent (99-80%) |
| HP:0010620 | Malar prominence | Very frequent (99-80%) |
| HP:0200055 | Small hand | Very frequent (99-80%) |
| HP:0000044 | Hypogonadotrophic hypogonadism | Frequent (79-30%) |
| HP:0001250 | Seizures | Occasional (29-5%) |
| HP:0001328 | Specific learning disability | Occasional (29-5%) |
| HP:0000518 | Cataract | Excluded (0%) |
| HP:0000540 | Hypermetropia | Excluded (0%) |
| HP:0009909 | Uplifted earlobe | Excluded (0%) |
Total: 0
| HPO ID | Term | # of case reports |
|---|