Rank (Similarity) |
PMID (PMCID) |
---|
|
Total: 15
HPO ID | Term | Frequency |
---|---|---|
HP:0000286 | Epicanthus | Very frequent (99-80%) |
HP:0000486 | Strabismus | Very frequent (99-80%) |
HP:0001251 | Ataxia | Very frequent (99-80%) |
HP:0001252 | Muscular hypotonia | Very frequent (99-80%) |
HP:0001288 | Gait disturbance | Very frequent (99-80%) |
HP:0007598 | Bilateral single transverse palmar creases | Very frequent (99-80%) |
HP:0100543 | Cognitive impairment | Very frequent (99-80%) |
HP:0000582 | Upslanted palpebral fissure | Frequent (79-30%) |
HP:0000431 | Wide nasal bridge | Occasional (29-5%) |
HP:0000508 | Ptosis | Occasional (29-5%) |
HP:0000664 | Synophrys | Occasional (29-5%) |
HP:0001156 | Brachydactyly | Occasional (29-5%) |
HP:0004209 | Clinodactyly of the 5th finger | Occasional (29-5%) |
HP:0004422 | Biparietal narrowing | Occasional (29-5%) |
HP:0010557 | Overlapping fingers | Occasional (29-5%) |
Total: 0
HPO ID | Term | # of case reports |
---|
Total: 0
Gene Symbol | Gene Name | Entrez Gene ID |
---|