| Rank (Similarity) |
PMID (PMCID) |
|---|
|
|
Total: 46
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000750 | Delayed speech and language development | Very frequent (99-80%) |
| HP:0010511 | Long toe | Very frequent (99-80%) |
| HP:0011342 | Mild global developmental delay | Very frequent (99-80%) |
| HP:0011343 | Moderate global developmental delay | Very frequent (99-80%) |
| HP:0100807 | Long fingers | Very frequent (99-80%) |
| HP:0000252 | Microcephaly | Frequent (79-30%) |
| HP:0001511 | Intrauterine growth retardation | Frequent (79-30%) |
| HP:0001643 | Patent ductus arteriosus | Frequent (79-30%) |
| HP:0002007 | Frontal bossing | Frequent (79-30%) |
| HP:0002092 | Pulmonary arterial hypertension | Frequent (79-30%) |
| HP:0004322 | Short stature | Frequent (79-30%) |
| HP:0000049 | Shawl scrotum | Occasional (29-5%) |
| HP:0000160 | Narrow mouth | Occasional (29-5%) |
| HP:0000272 | Malar flattening | Occasional (29-5%) |
| HP:0000286 | Epicanthus | Occasional (29-5%) |
| HP:0000316 | Hypertelorism | Occasional (29-5%) |
| HP:0000365 | Hearing impairment | Occasional (29-5%) |
| HP:0000389 | Chronic otitis media | Occasional (29-5%) |
| HP:0000411 | Protruding ear | Occasional (29-5%) |
| HP:0000414 | Bulbous nose | Occasional (29-5%) |
| HP:0000486 | Strabismus | Occasional (29-5%) |
| HP:0000498 | Blepharitis | Occasional (29-5%) |
| HP:0000527 | Long eyelashes | Occasional (29-5%) |
| HP:0000687 | Widely spaced teeth | Occasional (29-5%) |
| HP:0000708 | Behavioral abnormality | Occasional (29-5%) |
| HP:0000960 | Sacral dimple | Occasional (29-5%) |
| HP:0001252 | Muscular hypotonia | Occasional (29-5%) |
| HP:0001347 | Hyperreflexia | Occasional (29-5%) |
| HP:0001376 | Limitation of joint mobility | Occasional (29-5%) |
| HP:0001508 | Failure to thrive | Occasional (29-5%) |
| HP:0001631 | Atrial septal defect | Occasional (29-5%) |
| HP:0001763 | Pes planus | Occasional (29-5%) |
| HP:0001852 | Sandal gap | Occasional (29-5%) |
| HP:0002020 | Gastroesophageal reflux | Occasional (29-5%) |
| HP:0002094 | Dyspnea | Occasional (29-5%) |
| HP:0002553 | Highly arched eyebrow | Occasional (29-5%) |
| HP:0002650 | Scoliosis | Occasional (29-5%) |
| HP:0002803 | Congenital contracture | Occasional (29-5%) |
| HP:0003065 | Patellar hypoplasia | Occasional (29-5%) |
| HP:0003182 | Shallow acetabular fossae | Occasional (29-5%) |
| HP:0003279 | Coxa magna | Occasional (29-5%) |
| HP:0004209 | Clinodactyly of the 5th finger | Occasional (29-5%) |
| HP:0005280 | Depressed nasal bridge | Occasional (29-5%) |
| HP:0005930 | Abnormality of epiphysis morphology | Occasional (29-5%) |
| HP:0007598 | Bilateral single transverse palmar creases | Occasional (29-5%) |
| HP:0011803 | Bifid nose | Occasional (29-5%) |
Total: 0
| HPO ID | Term | # of case reports |
|---|