Rank (Similarity) |
PMID (PMCID) |
---|
|
Total: 25
HPO ID | Term | Frequency |
---|---|---|
HP:0000154 | Wide mouth | Very frequent (99-80%) |
HP:0000286 | Epicanthus | Very frequent (99-80%) |
HP:0000316 | Hypertelorism | Very frequent (99-80%) |
HP:0000324 | Facial asymmetry | Very frequent (99-80%) |
HP:0000407 | Sensorineural hearing impairment | Very frequent (99-80%) |
HP:0000431 | Wide nasal bridge | Very frequent (99-80%) |
HP:0000463 | Anteverted nares | Very frequent (99-80%) |
HP:0000708 | Behavioral abnormality | Very frequent (99-80%) |
HP:0001053 | Hypopigmented skin patches | Very frequent (99-80%) |
HP:0001172 | Abnormal thumb morphology | Very frequent (99-80%) |
HP:0001249 | Intellectual disability | Very frequent (99-80%) |
HP:0001250 | Seizures | Very frequent (99-80%) |
HP:0002750 | Delayed skeletal maturation | Very frequent (99-80%) |
HP:0003019 | Abnormality of the wrist | Very frequent (99-80%) |
HP:0004322 | Short stature | Very frequent (99-80%) |
HP:0005280 | Depressed nasal bridge | Very frequent (99-80%) |
HP:0007477 | Abnormal dermatoglyphics | Very frequent (99-80%) |
HP:0009623 | Proximal placement of thumb | Very frequent (99-80%) |
HP:0000343 | Long philtrum | Frequent (79-30%) |
HP:0000508 | Ptosis | Frequent (79-30%) |
HP:0000823 | Delayed puberty | Frequent (79-30%) |
HP:0002002 | Deep philtrum | Frequent (79-30%) |
HP:0002650 | Scoliosis | Frequent (79-30%) |
HP:0006101 | Finger syndactyly | Frequent (79-30%) |
HP:0100542 | Abnormal localization of kidney | Occasional (29-5%) |
Total: 0
HPO ID | Term | # of case reports |
---|
Total: 0
Gene Symbol | Gene Name | Entrez Gene ID |
---|