| Rank (Similarity) |
PMID (PMCID) |
|---|
|
|
Total: 23
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000179 | Thick lower lip vermilion | Frequent (79-30%) |
| HP:0000252 | Microcephaly | Frequent (79-30%) |
| HP:0000294 | Low anterior hairline | Frequent (79-30%) |
| HP:0000341 | Narrow forehead | Frequent (79-30%) |
| HP:0000368 | Low-set, posteriorly rotated ears | Frequent (79-30%) |
| HP:0000463 | Anteverted nares | Frequent (79-30%) |
| HP:0000486 | Strabismus | Frequent (79-30%) |
| HP:0000527 | Long eyelashes | Frequent (79-30%) |
| HP:0000574 | Thick eyebrow | Frequent (79-30%) |
| HP:0001007 | Hirsutism | Frequent (79-30%) |
| HP:0001263 | Global developmental delay | Frequent (79-30%) |
| HP:0001274 | Agenesis of corpus callosum | Frequent (79-30%) |
| HP:0001276 | Hypertonia | Frequent (79-30%) |
| HP:0001320 | Cerebellar vermis hypoplasia | Frequent (79-30%) |
| HP:0001344 | Absent speech | Frequent (79-30%) |
| HP:0001510 | Growth delay | Frequent (79-30%) |
| HP:0002470 | Nonprogressive cerebellar ataxia | Frequent (79-30%) |
| HP:0002509 | Limb hypertonia | Frequent (79-30%) |
| HP:0002553 | Highly arched eyebrow | Frequent (79-30%) |
| HP:0010864 | Intellectual disability, severe | Frequent (79-30%) |
| HP:0011451 | Congenital microcephaly | Frequent (79-30%) |
| HP:0100540 | Palpebral edema | Frequent (79-30%) |
| HP:0002465 | Poor speech | Occasional (29-5%) |
Total: 0
| HPO ID | Term | # of case reports |
|---|