Rank (Similarity) |
PMID (PMCID) |
---|
|
Total: 19
HPO ID | Term | Frequency |
---|---|---|
HP:0000252 | Microcephaly | Very frequent (99-80%) |
HP:0000268 | Dolichocephaly | Very frequent (99-80%) |
HP:0000272 | Malar flattening | Very frequent (99-80%) |
HP:0000369 | Low-set ears | Very frequent (99-80%) |
HP:0000400 | Macrotia | Very frequent (99-80%) |
HP:0002187 | Intellectual disability, profound | Very frequent (99-80%) |
HP:0002362 | Shuffling gait | Very frequent (99-80%) |
HP:0002705 | High, narrow palate | Very frequent (99-80%) |
HP:0002751 | Kyphoscoliosis | Very frequent (99-80%) |
HP:0003199 | Decreased muscle mass | Very frequent (99-80%) |
HP:0004322 | Short stature | Very frequent (99-80%) |
HP:0005469 | Flat occiput | Very frequent (99-80%) |
HP:0000494 | Downslanted palpebral fissures | Frequent (79-30%) |
HP:0000518 | Cataract | Frequent (79-30%) |
HP:0003413 | Atlantoaxial abnormality | Frequent (79-30%) |
HP:0005620 | Hypermobility of interphalangeal joints | Frequent (79-30%) |
HP:0010055 | Broad hallux | Frequent (79-30%) |
HP:0011304 | Broad thumb | Frequent (79-30%) |
HP:0012811 | Wide nasal ridge | Frequent (79-30%) |
Total: 0
HPO ID | Term | # of case reports |
---|
Total: 0
Gene Symbol | Gene Name | Entrez Gene ID |
---|