| Rank (Similarity) |
PMID (PMCID) |
|---|
|
|
Total: 24
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000256 | Macrocephaly | Very frequent (99-80%) |
| HP:0000278 | Retrognathia | Very frequent (99-80%) |
| HP:0000348 | High forehead | Very frequent (99-80%) |
| HP:0000365 | Hearing impairment | Very frequent (99-80%) |
| HP:0000369 | Low-set ears | Very frequent (99-80%) |
| HP:0000377 | Abnormality of the pinna | Very frequent (99-80%) |
| HP:0000378 | Cupped ear | Very frequent (99-80%) |
| HP:0000407 | Sensorineural hearing impairment | Very frequent (99-80%) |
| HP:0000470 | Short neck | Very frequent (99-80%) |
| HP:0000494 | Downslanted palpebral fissures | Very frequent (99-80%) |
| HP:0000639 | Nystagmus | Very frequent (99-80%) |
| HP:0000767 | Pectus excavatum | Very frequent (99-80%) |
| HP:0001249 | Intellectual disability | Very frequent (99-80%) |
| HP:0001274 | Agenesis of corpus callosum | Very frequent (99-80%) |
| HP:0002650 | Scoliosis | Very frequent (99-80%) |
| HP:0004322 | Short stature | Very frequent (99-80%) |
| HP:0000175 | Cleft palate | Frequent (79-30%) |
| HP:0000218 | High palate | Frequent (79-30%) |
| HP:0000426 | Prominent nasal bridge | Frequent (79-30%) |
| HP:0000453 | Choanal atresia | Frequent (79-30%) |
| HP:0000588 | Optic nerve coloboma | Frequent (79-30%) |
| HP:0000612 | Iris coloboma | Frequent (79-30%) |
| HP:0001629 | Ventricular septal defect | Frequent (79-30%) |
| HP:0001643 | Patent ductus arteriosus | Frequent (79-30%) |
Total: 0
| HPO ID | Term | # of case reports |
|---|