| Rank (Similarity) |
PMID (PMCID) |
|---|
|
|
Total: 24
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000232 | Everted lower lip vermilion | Very frequent (99-80%) |
| HP:0000343 | Long philtrum | Very frequent (99-80%) |
| HP:0000377 | Abnormality of the pinna | Very frequent (99-80%) |
| HP:0000463 | Anteverted nares | Very frequent (99-80%) |
| HP:0000582 | Upslanted palpebral fissure | Very frequent (99-80%) |
| HP:0001162 | Postaxial hand polydactyly | Very frequent (99-80%) |
| HP:0001252 | Muscular hypotonia | Very frequent (99-80%) |
| HP:0001511 | Intrauterine growth retardation | Very frequent (99-80%) |
| HP:0001629 | Ventricular septal defect | Very frequent (99-80%) |
| HP:0004322 | Short stature | Very frequent (99-80%) |
| HP:0005280 | Depressed nasal bridge | Very frequent (99-80%) |
| HP:0008404 | Nail dystrophy | Very frequent (99-80%) |
| HP:0011344 | Severe global developmental delay | Very frequent (99-80%) |
| HP:0000089 | Renal hypoplasia | Frequent (79-30%) |
| HP:0001321 | Cerebellar hypoplasia | Frequent (79-30%) |
| HP:0001596 | Alopecia | Frequent (79-30%) |
| HP:0001631 | Atrial septal defect | Frequent (79-30%) |
| HP:0002208 | Coarse hair | Frequent (79-30%) |
| HP:0002299 | Brittle hair | Frequent (79-30%) |
| HP:0004415 | Pulmonary artery stenosis | Frequent (79-30%) |
| HP:0006610 | Wide intermamillary distance | Frequent (79-30%) |
| HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | Frequent (79-30%) |
| HP:0011747 | Abnormality of the anterior pituitary | Occasional (29-5%) |
| HP:0011757 | Posterior pituitary hypoplasia | Occasional (29-5%) |
Total: 0
| HPO ID | Term | # of case reports |
|---|
Total: 0
| Gene Symbol | Gene Name | Entrez Gene ID |
|---|