Rank (Similarity) |
PMID (PMCID) |
---|
|
Total: 30
HPO ID | Term | Frequency |
---|---|---|
HP:0000252 | Microcephaly | Very frequent (99-80%) |
HP:0004322 | Short stature | Very frequent (99-80%) |
HP:0000028 | Cryptorchidism | Frequent (79-30%) |
HP:0000047 | Hypospadias | Frequent (79-30%) |
HP:0000160 | Narrow mouth | Frequent (79-30%) |
HP:0000233 | Thin vermilion border | Frequent (79-30%) |
HP:0000316 | Hypertelorism | Frequent (79-30%) |
HP:0000343 | Long philtrum | Frequent (79-30%) |
HP:0000347 | Micrognathia | Frequent (79-30%) |
HP:0000369 | Low-set ears | Frequent (79-30%) |
HP:0000400 | Macrotia | Frequent (79-30%) |
HP:0000426 | Prominent nasal bridge | Frequent (79-30%) |
HP:0000494 | Downslanted palpebral fissures | Frequent (79-30%) |
HP:0000670 | Carious teeth | Frequent (79-30%) |
HP:0000750 | Delayed speech and language development | Frequent (79-30%) |
HP:0001156 | Brachydactyly | Frequent (79-30%) |
HP:0001363 | Craniosynostosis | Frequent (79-30%) |
HP:0001629 | Ventricular septal defect | Frequent (79-30%) |
HP:0002342 | Intellectual disability, moderate | Frequent (79-30%) |
HP:0002984 | Hypoplasia of the radius | Frequent (79-30%) |
HP:0003022 | Hypoplasia of the ulna | Frequent (79-30%) |
HP:0003196 | Short nose | Frequent (79-30%) |
HP:0007930 | obsolete Prominent epicanthal folds | Frequent (79-30%) |
HP:0012368 | Flat face | Frequent (79-30%) |
HP:0100790 | Hernia | Frequent (79-30%) |
HP:0000567 | Chorioretinal coloboma | Occasional (29-5%) |
HP:0000964 | Eczema | Occasional (29-5%) |
HP:0001651 | Dextrocardia | Occasional (29-5%) |
HP:0009777 | Absent thumb | Occasional (29-5%) |
HP:0011466 | Aplasia/Hypoplasia of the gallbladder | Occasional (29-5%) |
Total: 0
HPO ID | Term | # of case reports |
---|
Total: 0
Gene Symbol | Gene Name | Entrez Gene ID |
---|