| Rank (Similarity) |
PMID (PMCID) |
|---|
|
|
Total: 28
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000348 | High forehead | Very frequent (99-80%) |
| HP:0000956 | Acanthosis nigricans | Very frequent (99-80%) |
| HP:0002007 | Frontal bossing | Very frequent (99-80%) |
| HP:0000238 | Hydrocephalus | Frequent (79-30%) |
| HP:0000248 | Brachycephaly | Frequent (79-30%) |
| HP:0000262 | Turricephaly | Frequent (79-30%) |
| HP:0000272 | Malar flattening | Frequent (79-30%) |
| HP:0000316 | Hypertelorism | Frequent (79-30%) |
| HP:0000327 | Hypoplasia of the maxilla | Frequent (79-30%) |
| HP:0000405 | Conductive hearing impairment | Frequent (79-30%) |
| HP:0000453 | Choanal atresia | Frequent (79-30%) |
| HP:0000486 | Strabismus | Frequent (79-30%) |
| HP:0000508 | Ptosis | Frequent (79-30%) |
| HP:0000520 | Proptosis | Frequent (79-30%) |
| HP:0001156 | Brachydactyly | Frequent (79-30%) |
| HP:0001163 | Abnormality of the metacarpal bones | Frequent (79-30%) |
| HP:0002308 | Arnold-Chiari malformation | Frequent (79-30%) |
| HP:0002516 | Increased intracranial pressure | Frequent (79-30%) |
| HP:0003312 | Abnormal form of the vertebral bodies | Frequent (79-30%) |
| HP:0007360 | Aplasia/Hypoplasia of the cerebellum | Frequent (79-30%) |
| HP:0100533 | Inflammatory abnormality of the eye | Frequent (79-30%) |
| HP:0000174 | Abnormal palate morphology | Occasional (29-5%) |
| HP:0000444 | Convex nasal ridge | Occasional (29-5%) |
| HP:0000505 | Visual impairment | Occasional (29-5%) |
| HP:0000648 | Optic atrophy | Occasional (29-5%) |
| HP:0002076 | Migraine | Occasional (29-5%) |
| HP:0002093 | Respiratory insufficiency | Occasional (29-5%) |
| HP:0005107 | Abnormal sacrum morphology | Occasional (29-5%) |
Total: 0
| HPO ID | Term | # of case reports |
|---|