| Rank (Similarity) |
PMID (PMCID) |
|---|
|
|
Total: 27
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000248 | Brachycephaly | Very frequent (99-80%) |
| HP:0000316 | Hypertelorism | Very frequent (99-80%) |
| HP:0000337 | Broad forehead | Very frequent (99-80%) |
| HP:0000528 | Anophthalmia | Very frequent (99-80%) |
| HP:0000582 | Upslanted palpebral fissure | Very frequent (99-80%) |
| HP:0000618 | Blindness | Very frequent (99-80%) |
| HP:0005288 | Abnormality of the nares | Very frequent (99-80%) |
| HP:0009891 | Underdeveloped supraorbital ridges | Very frequent (99-80%) |
| HP:0011220 | Prominent forehead | Very frequent (99-80%) |
| HP:0100729 | Large face | Very frequent (99-80%) |
| HP:0000218 | High palate | Frequent (79-30%) |
| HP:0000286 | Epicanthus | Frequent (79-30%) |
| HP:0000343 | Long philtrum | Frequent (79-30%) |
| HP:0000368 | Low-set, posteriorly rotated ears | Frequent (79-30%) |
| HP:0000400 | Macrotia | Frequent (79-30%) |
| HP:0000535 | Sparse and thin eyebrow | Frequent (79-30%) |
| HP:0000653 | Sparse eyelashes | Frequent (79-30%) |
| HP:0000687 | Widely spaced teeth | Frequent (79-30%) |
| HP:0000691 | Microdontia | Frequent (79-30%) |
| HP:0001162 | Postaxial hand polydactyly | Frequent (79-30%) |
| HP:0001249 | Intellectual disability | Frequent (79-30%) |
| HP:0002006 | Facial cleft | Frequent (79-30%) |
| HP:0006315 | Single median maxillary incisor | Frequent (79-30%) |
| HP:0008736 | Hypoplasia of penis | Frequent (79-30%) |
| HP:0009912 | Abnormality of the tragus | Frequent (79-30%) |
| HP:0012639 | Abnormality of nervous system morphology | Frequent (79-30%) |
| HP:0010806 | U-Shaped upper lip vermilion | Occasional (29-5%) |
Total: 0
| HPO ID | Term | # of case reports |
|---|
Total: 0
| Gene Symbol | Gene Name | Entrez Gene ID |
|---|