| Rank (Similarity) |
PMID (PMCID) |
|---|
|
|
Total: 29
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000164 | Abnormality of the dentition | Very frequent (99-80%) |
| HP:0000174 | Abnormal palate morphology | Very frequent (99-80%) |
| HP:0000256 | Macrocephaly | Very frequent (99-80%) |
| HP:0000280 | Coarse facial features | Very frequent (99-80%) |
| HP:0000286 | Epicanthus | Very frequent (99-80%) |
| HP:0000337 | Broad forehead | Very frequent (99-80%) |
| HP:0000348 | High forehead | Very frequent (99-80%) |
| HP:0000368 | Low-set, posteriorly rotated ears | Very frequent (99-80%) |
| HP:0000431 | Wide nasal bridge | Very frequent (99-80%) |
| HP:0000545 | Myopia | Very frequent (99-80%) |
| HP:0000574 | Thick eyebrow | Very frequent (99-80%) |
| HP:0000639 | Nystagmus | Very frequent (99-80%) |
| HP:0000648 | Optic atrophy | Very frequent (99-80%) |
| HP:0000664 | Synophrys | Very frequent (99-80%) |
| HP:0001007 | Hirsutism | Very frequent (99-80%) |
| HP:0001099 | Fundus atrophy | Very frequent (99-80%) |
| HP:0001305 | Dandy-Walker malformation | Very frequent (99-80%) |
| HP:0001821 | Broad nail | Very frequent (99-80%) |
| HP:0002650 | Scoliosis | Very frequent (99-80%) |
| HP:0004374 | Hemiplegia/hemiparesis | Very frequent (99-80%) |
| HP:0006887 | Intellectual disability, progressive | Very frequent (99-80%) |
| HP:0009882 | Short distal phalanx of finger | Very frequent (99-80%) |
| HP:0010864 | Intellectual disability, severe | Very frequent (99-80%) |
| HP:0011039 | Abnormality of the helix | Very frequent (99-80%) |
| HP:0001250 | Seizures | Frequent (79-30%) |
| HP:0001276 | Hypertonia | Frequent (79-30%) |
| HP:0000028 | Cryptorchidism | Occasional (29-5%) |
| HP:0000046 | Scrotal hypoplasia | Occasional (29-5%) |
| HP:0001252 | Muscular hypotonia | Occasional (29-5%) |
Total: 0
| HPO ID | Term | # of case reports |
|---|
Total: 0
| Gene Symbol | Gene Name | Entrez Gene ID |
|---|