| Rank (Similarity) |
PMID (PMCID) |
|---|
|
|
Total: 47
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000348 | High forehead | Very frequent (99-80%) |
| HP:0000411 | Protruding ear | Very frequent (99-80%) |
| HP:0000717 | Autism | Very frequent (99-80%) |
| HP:0000154 | Wide mouth | Frequent (79-30%) |
| HP:0000218 | High palate | Frequent (79-30%) |
| HP:0000307 | Pointed chin | Frequent (79-30%) |
| HP:0000319 | Smooth philtrum | Frequent (79-30%) |
| HP:0000343 | Long philtrum | Frequent (79-30%) |
| HP:0000347 | Micrognathia | Frequent (79-30%) |
| HP:0000609 | Optic nerve hypoplasia | Frequent (79-30%) |
| HP:0001250 | Seizures | Frequent (79-30%) |
| HP:0002007 | Frontal bossing | Frequent (79-30%) |
| HP:0002079 | Hypoplasia of the corpus callosum | Frequent (79-30%) |
| HP:0002119 | Ventriculomegaly | Frequent (79-30%) |
| HP:0002342 | Intellectual disability, moderate | Frequent (79-30%) |
| HP:0007165 | Periventricular heterotopia | Frequent (79-30%) |
| HP:0030048 | Colpocephaly | Frequent (79-30%) |
| HP:0000028 | Cryptorchidism | Occasional (29-5%) |
| HP:0000276 | Long face | Occasional (29-5%) |
| HP:0000325 | Triangular face | Occasional (29-5%) |
| HP:0000365 | Hearing impairment | Occasional (29-5%) |
| HP:0000384 | Preauricular skin tag | Occasional (29-5%) |
| HP:0000389 | Chronic otitis media | Occasional (29-5%) |
| HP:0000463 | Anteverted nares | Occasional (29-5%) |
| HP:0000483 | Astigmatism | Occasional (29-5%) |
| HP:0000486 | Strabismus | Occasional (29-5%) |
| HP:0000505 | Visual impairment | Occasional (29-5%) |
| HP:0000545 | Myopia | Occasional (29-5%) |
| HP:0000582 | Upslanted palpebral fissure | Occasional (29-5%) |
| HP:0000639 | Nystagmus | Occasional (29-5%) |
| HP:0000750 | Delayed speech and language development | Occasional (29-5%) |
| HP:0001385 | Hip dysplasia | Occasional (29-5%) |
| HP:0001629 | Ventricular septal defect | Occasional (29-5%) |
| HP:0001644 | Dilated cardiomyopathy | Occasional (29-5%) |
| HP:0001653 | Mitral regurgitation | Occasional (29-5%) |
| HP:0001873 | Thrombocytopenia | Occasional (29-5%) |
| HP:0002015 | Dysphagia | Occasional (29-5%) |
| HP:0002553 | Highly arched eyebrow | Occasional (29-5%) |
| HP:0002650 | Scoliosis | Occasional (29-5%) |
| HP:0002808 | Kyphosis | Occasional (29-5%) |
| HP:0004422 | Biparietal narrowing | Occasional (29-5%) |
| HP:0005518 | Increased mean corpuscular volume | Occasional (29-5%) |
| HP:0006315 | Single median maxillary incisor | Occasional (29-5%) |
| HP:0009623 | Proximal placement of thumb | Occasional (29-5%) |
| HP:0010720 | Abnormal hair pattern | Occasional (29-5%) |
| HP:0011968 | Feeding difficulties | Occasional (29-5%) |
| HP:0012471 | Thick vermilion border | Occasional (29-5%) |
Total: 0
| HPO ID | Term | # of case reports |
|---|