| Rank (Similarity) |
PMID (PMCID) |
|---|
|
|
Total: 29
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000175 | Cleft palate | Frequent (79-30%) |
| HP:0000286 | Epicanthus | Frequent (79-30%) |
| HP:0000316 | Hypertelorism | Frequent (79-30%) |
| HP:0000327 | Hypoplasia of the maxilla | Frequent (79-30%) |
| HP:0000349 | Widow's peak | Frequent (79-30%) |
| HP:0000368 | Low-set, posteriorly rotated ears | Frequent (79-30%) |
| HP:0000384 | Preauricular skin tag | Frequent (79-30%) |
| HP:0000405 | Conductive hearing impairment | Frequent (79-30%) |
| HP:0000430 | Underdeveloped nasal alae | Frequent (79-30%) |
| HP:0000431 | Wide nasal bridge | Frequent (79-30%) |
| HP:0000508 | Ptosis | Frequent (79-30%) |
| HP:0000518 | Cataract | Frequent (79-30%) |
| HP:0000568 | Microphthalmia | Frequent (79-30%) |
| HP:0000625 | Eyelid coloboma | Frequent (79-30%) |
| HP:0000653 | Sparse eyelashes | Frequent (79-30%) |
| HP:0001156 | Brachydactyly | Frequent (79-30%) |
| HP:0001274 | Agenesis of corpus callosum | Frequent (79-30%) |
| HP:0002006 | Facial cleft | Frequent (79-30%) |
| HP:0005258 | Pectoral muscle hypoplasia/aplasia | Frequent (79-30%) |
| HP:0005466 | Hypoplasia of the frontal bone | Frequent (79-30%) |
| HP:0009119 | Aplasia/Hypoplasia of the frontal sinuses | Frequent (79-30%) |
| HP:0011803 | Bifid nose | Frequent (79-30%) |
| HP:0040019 | Finger clinodactyly | Frequent (79-30%) |
| HP:0045075 | Sparse eyebrow | Frequent (79-30%) |
| HP:0100490 | Camptodactyly of finger | Frequent (79-30%) |
| HP:0001249 | Intellectual disability | Occasional (29-5%) |
| HP:0001636 | Tetralogy of Fallot | Occasional (29-5%) |
| HP:0004423 | Cranium bifidum occultum | Occasional (29-5%) |
| HP:0006931 | Lipoma of corpus callosum | Occasional (29-5%) |
Total: 0
| HPO ID | Term | # of case reports |
|---|