Rank (Similarity) |
PMID (PMCID) |
---|
|
Total: 22
HPO ID | Term | Frequency |
---|---|---|
HP:0000218 | High palate | Very frequent (99-80%) |
HP:0000252 | Microcephaly | Very frequent (99-80%) |
HP:0000286 | Epicanthus | Very frequent (99-80%) |
HP:0000298 | Mask-like facies | Very frequent (99-80%) |
HP:0000307 | Pointed chin | Very frequent (99-80%) |
HP:0000348 | High forehead | Very frequent (99-80%) |
HP:0000431 | Wide nasal bridge | Very frequent (99-80%) |
HP:0000463 | Anteverted nares | Very frequent (99-80%) |
HP:0000582 | Upslanted palpebral fissure | Very frequent (99-80%) |
HP:0001252 | Muscular hypotonia | Very frequent (99-80%) |
HP:0001263 | Global developmental delay | Very frequent (99-80%) |
HP:0001265 | Hyporeflexia | Very frequent (99-80%) |
HP:0002007 | Frontal bossing | Very frequent (99-80%) |
HP:0007598 | Bilateral single transverse palmar creases | Very frequent (99-80%) |
HP:0010864 | Intellectual disability, severe | Very frequent (99-80%) |
HP:0000953 | Hyperpigmentation of the skin | Frequent (79-30%) |
HP:0001508 | Failure to thrive | Frequent (79-30%) |
HP:0001511 | Intrauterine growth retardation | Frequent (79-30%) |
HP:0001596 | Alopecia | Frequent (79-30%) |
HP:0002240 | Hepatomegaly | Frequent (79-30%) |
HP:0002299 | Brittle hair | Frequent (79-30%) |
HP:0004322 | Short stature | Frequent (79-30%) |
Total: 0
HPO ID | Term | # of case reports |
---|
Total: 0
Gene Symbol | Gene Name | Entrez Gene ID |
---|