| Rank (Similarity) |
PMID (PMCID) |
|---|
|
|
Total: 26
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000280 | Coarse facial features | Very frequent (99-80%) |
| HP:0000750 | Delayed speech and language development | Very frequent (99-80%) |
| HP:0001249 | Intellectual disability | Very frequent (99-80%) |
| HP:0001256 | Intellectual disability, mild | Very frequent (99-80%) |
| HP:0002342 | Intellectual disability, moderate | Very frequent (99-80%) |
| HP:0000256 | Macrocephaly | Frequent (79-30%) |
| HP:0010864 | Intellectual disability, severe | Frequent (79-30%) |
| HP:0000053 | Macroorchidism | Occasional (29-5%) |
| HP:0000276 | Long face | Occasional (29-5%) |
| HP:0000307 | Pointed chin | Occasional (29-5%) |
| HP:0000494 | Downslanted palpebral fissures | Occasional (29-5%) |
| HP:0000601 | Hypotelorism | Occasional (29-5%) |
| HP:0001182 | Tapered finger | Occasional (29-5%) |
| HP:0001231 | Abnormal fingernail morphology | Occasional (29-5%) |
| HP:0001250 | Seizures | Occasional (29-5%) |
| HP:0001263 | Global developmental delay | Occasional (29-5%) |
| HP:0001276 | Hypertonia | Occasional (29-5%) |
| HP:0001347 | Hyperreflexia | Occasional (29-5%) |
| HP:0001360 | Holoprosencephaly | Occasional (29-5%) |
| HP:0001377 | Limited elbow extension | Occasional (29-5%) |
| HP:0001513 | Obesity | Occasional (29-5%) |
| HP:0002194 | Delayed gross motor development | Occasional (29-5%) |
| HP:0006466 | Ankle flexion contracture | Occasional (29-5%) |
| HP:0008222 | Female infertility | Occasional (29-5%) |
| HP:0100596 | Absent nares | Occasional (29-5%) |
| HP:0100807 | Long fingers | Occasional (29-5%) |
Total: 0
| HPO ID | Term | # of case reports |
|---|