Rank (Similarity) |
PMID (PMCID) |
---|
|
Total: 24
HPO ID | Term | Frequency |
---|---|---|
HP:0000348 | High forehead | Very frequent (99-80%) |
HP:0001249 | Intellectual disability | Very frequent (99-80%) |
HP:0001250 | Seizures | Very frequent (99-80%) |
HP:0004322 | Short stature | Very frequent (99-80%) |
HP:0000218 | High palate | Frequent (79-30%) |
HP:0000368 | Low-set, posteriorly rotated ears | Frequent (79-30%) |
HP:0000444 | Convex nasal ridge | Frequent (79-30%) |
HP:0000463 | Anteverted nares | Frequent (79-30%) |
HP:0000486 | Strabismus | Frequent (79-30%) |
HP:0000494 | Downslanted palpebral fissures | Frequent (79-30%) |
HP:0000958 | Dry skin | Frequent (79-30%) |
HP:0001166 | Arachnodactyly | Frequent (79-30%) |
HP:0001252 | Muscular hypotonia | Frequent (79-30%) |
HP:0001852 | Sandal gap | Frequent (79-30%) |
HP:0002007 | Frontal bossing | Frequent (79-30%) |
HP:0002353 | EEG abnormality | Frequent (79-30%) |
HP:0002857 | Genu valgum | Frequent (79-30%) |
HP:0002983 | Micromelia | Frequent (79-30%) |
HP:0005692 | Joint hyperflexibility | Frequent (79-30%) |
HP:0100720 | Hypoplasia of the ear cartilage | Frequent (79-30%) |
HP:0000069 | Abnormality of the ureter | Occasional (29-5%) |
HP:0001513 | Obesity | Occasional (29-5%) |
HP:0001537 | Umbilical hernia | Occasional (29-5%) |
HP:0001631 | Atrial septal defect | Occasional (29-5%) |
Total: 0
HPO ID | Term | # of case reports |
---|
Total: 0
Gene Symbol | Gene Name | Entrez Gene ID |
---|