| Rank (Similarity) |
PMID (PMCID) |
|---|
|
|
Total: 29
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000164 | Abnormality of the dentition | Frequent (79-30%) |
| HP:0000180 | Lobulated tongue | Frequent (79-30%) |
| HP:0000193 | Bifid uvula | Frequent (79-30%) |
| HP:0000316 | Hypertelorism | Frequent (79-30%) |
| HP:0000369 | Low-set ears | Frequent (79-30%) |
| HP:0000414 | Bulbous nose | Frequent (79-30%) |
| HP:0000577 | Exotropia | Frequent (79-30%) |
| HP:0000657 | Oculomotor apraxia | Frequent (79-30%) |
| HP:0000767 | Pectus excavatum | Frequent (79-30%) |
| HP:0000879 | Short sternum | Frequent (79-30%) |
| HP:0001162 | Postaxial hand polydactyly | Frequent (79-30%) |
| HP:0001257 | Spasticity | Frequent (79-30%) |
| HP:0001305 | Dandy-Walker malformation | Frequent (79-30%) |
| HP:0001320 | Cerebellar vermis hypoplasia | Frequent (79-30%) |
| HP:0001336 | Myoclonus | Frequent (79-30%) |
| HP:0001830 | Postaxial foot polydactyly | Frequent (79-30%) |
| HP:0002942 | Thoracic kyphosis | Frequent (79-30%) |
| HP:0003774 | Stage 5 chronic kidney disease | Frequent (79-30%) |
| HP:0010864 | Intellectual disability, severe | Frequent (79-30%) |
| HP:0011168 | Eyelid myoclonias | Frequent (79-30%) |
| HP:0011802 | Hamartoma of tongue | Frequent (79-30%) |
| HP:0012489 | Suprasellar arachnoid cyst | Frequent (79-30%) |
| HP:0012547 | Abnormal involuntary eye movements | Frequent (79-30%) |
| HP:0040079 | Irregular dentition | Frequent (79-30%) |
| HP:0010729 | Cherry red spot of the macula | Occasional (29-5%) |
| HP:0012044 | Seesaw nystagmus | Occasional (29-5%) |
| HP:0001626 | Abnormality of the cardiovascular system | Excluded (0%) |
| HP:0010719 | Abnormality of hair texture | Excluded (0%) |
| HP:0011842 | Abnormality of skeletal morphology | Excluded (0%) |
Total: 0
| HPO ID | Term | # of case reports |
|---|