| Rank (Similarity) |
PMID (PMCID) |
|---|
|
|
Total: 29
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000325 | Triangular face | Very frequent (99-80%) |
| HP:0000343 | Long philtrum | Very frequent (99-80%) |
| HP:0000347 | Micrognathia | Very frequent (99-80%) |
| HP:0000400 | Macrotia | Very frequent (99-80%) |
| HP:0000411 | Protruding ear | Very frequent (99-80%) |
| HP:0000414 | Bulbous nose | Very frequent (99-80%) |
| HP:0000535 | Sparse and thin eyebrow | Very frequent (99-80%) |
| HP:0000653 | Sparse eyelashes | Very frequent (99-80%) |
| HP:0002007 | Frontal bossing | Very frequent (99-80%) |
| HP:0004209 | Clinodactyly of the 5th finger | Very frequent (99-80%) |
| HP:0004322 | Short stature | Very frequent (99-80%) |
| HP:0008070 | Sparse hair | Very frequent (99-80%) |
| HP:0009882 | Short distal phalanx of finger | Very frequent (99-80%) |
| HP:0010049 | Short metacarpal | Very frequent (99-80%) |
| HP:0010579 | Cone-shaped epiphysis | Very frequent (99-80%) |
| HP:0010743 | Short metatarsal | Very frequent (99-80%) |
| HP:0011341 | Long upper lip | Very frequent (99-80%) |
| HP:0011910 | Shortening of all phalanges of fingers | Very frequent (99-80%) |
| HP:0000164 | Abnormality of the dentition | Frequent (79-30%) |
| HP:0000218 | High palate | Frequent (79-30%) |
| HP:0000768 | Pectus carinatum | Frequent (79-30%) |
| HP:0001252 | Muscular hypotonia | Frequent (79-30%) |
| HP:0001808 | Fragile nails | Frequent (79-30%) |
| HP:0001820 | Leukonychia | Frequent (79-30%) |
| HP:0002650 | Scoliosis | Frequent (79-30%) |
| HP:0003307 | Hyperlordosis | Frequent (79-30%) |
| HP:0005743 | Avascular necrosis of the capital femoral epiphysis | Frequent (79-30%) |
| HP:0011069 | Increased number of teeth | Frequent (79-30%) |
| HP:0100490 | Camptodactyly of finger | Frequent (79-30%) |
Total: 0
| HPO ID | Term | # of case reports |
|---|