| Rank (Similarity) |
PMID (PMCID) |
|---|
|
|
Total: 22
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000348 | High forehead | Very frequent (99-80%) |
| HP:0000455 | Broad nasal tip | Very frequent (99-80%) |
| HP:0000508 | Ptosis | Very frequent (99-80%) |
| HP:0000537 | Epicanthus inversus | Very frequent (99-80%) |
| HP:0002007 | Frontal bossing | Very frequent (99-80%) |
| HP:0005280 | Depressed nasal bridge | Very frequent (99-80%) |
| HP:0005453 | Absent/hypoplastic paranasal sinuses | Very frequent (99-80%) |
| HP:0009119 | Aplasia/Hypoplasia of the frontal sinuses | Very frequent (99-80%) |
| HP:0000256 | Macrocephaly | Frequent (79-30%) |
| HP:0000260 | Wide anterior fontanel | Frequent (79-30%) |
| HP:0000316 | Hypertelorism | Frequent (79-30%) |
| HP:0000358 | Posteriorly rotated ears | Frequent (79-30%) |
| HP:0001511 | Intrauterine growth retardation | Frequent (79-30%) |
| HP:0001518 | Small for gestational age | Frequent (79-30%) |
| HP:0002693 | Abnormality of the skull base | Frequent (79-30%) |
| HP:0004322 | Short stature | Frequent (79-30%) |
| HP:0005494 | Premature posterior fontanelle closure | Frequent (79-30%) |
| HP:0010291 | Prominent palatine ridges | Frequent (79-30%) |
| HP:0011330 | Metopic synostosis | Frequent (79-30%) |
| HP:0000077 | Abnormality of the kidney | Excluded (0%) |
| HP:0000820 | Abnormality of the thyroid gland | Excluded (0%) |
| HP:0001263 | Global developmental delay | Excluded (0%) |
Total: 0
| HPO ID | Term | # of case reports |
|---|