| Rank (Similarity) |
PMID (PMCID) |
|---|
|
|
Total: 27
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0001321 | Cerebellar hypoplasia | Very frequent (99-80%) |
| HP:0002342 | Intellectual disability, moderate | Very frequent (99-80%) |
| HP:0011344 | Severe global developmental delay | Very frequent (99-80%) |
| HP:0000252 | Microcephaly | Frequent (79-30%) |
| HP:0000316 | Hypertelorism | Frequent (79-30%) |
| HP:0000337 | Broad forehead | Frequent (79-30%) |
| HP:0000343 | Long philtrum | Frequent (79-30%) |
| HP:0000347 | Micrognathia | Frequent (79-30%) |
| HP:0000400 | Macrotia | Frequent (79-30%) |
| HP:0000407 | Sensorineural hearing impairment | Frequent (79-30%) |
| HP:0000431 | Wide nasal bridge | Frequent (79-30%) |
| HP:0000486 | Strabismus | Frequent (79-30%) |
| HP:0000505 | Visual impairment | Frequent (79-30%) |
| HP:0000518 | Cataract | Frequent (79-30%) |
| HP:0000545 | Myopia | Frequent (79-30%) |
| HP:0000639 | Nystagmus | Frequent (79-30%) |
| HP:0001250 | Seizures | Frequent (79-30%) |
| HP:0001288 | Gait disturbance | Frequent (79-30%) |
| HP:0002120 | Cerebral cortical atrophy | Frequent (79-30%) |
| HP:0000567 | Chorioretinal coloboma | Occasional (29-5%) |
| HP:0000609 | Optic nerve hypoplasia | Occasional (29-5%) |
| HP:0000648 | Optic atrophy | Occasional (29-5%) |
| HP:0001257 | Spasticity | Occasional (29-5%) |
| HP:0001344 | Absent speech | Occasional (29-5%) |
| HP:0001508 | Failure to thrive | Occasional (29-5%) |
| HP:0002063 | Rigidity | Occasional (29-5%) |
| HP:0002650 | Scoliosis | Occasional (29-5%) |
Total: 0
| HPO ID | Term | # of case reports |
|---|