| Rank (Similarity) |
PMID (PMCID) |
|---|
|
|
Total: 24
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000252 | Microcephaly | Very frequent (99-80%) |
| HP:0000365 | Hearing impairment | Very frequent (99-80%) |
| HP:0001249 | Intellectual disability | Very frequent (99-80%) |
| HP:0001252 | Muscular hypotonia | Very frequent (99-80%) |
| HP:0001596 | Alopecia | Very frequent (99-80%) |
| HP:0002209 | Sparse scalp hair | Very frequent (99-80%) |
| HP:0002231 | Sparse body hair | Very frequent (99-80%) |
| HP:0002750 | Delayed skeletal maturation | Very frequent (99-80%) |
| HP:0100840 | Aplasia/Hypoplasia of the eyebrow | Very frequent (99-80%) |
| HP:0000613 | Photophobia | Frequent (79-30%) |
| HP:0000815 | Hypergonadotropic hypogonadism | Frequent (79-30%) |
| HP:0001156 | Brachydactyly | Frequent (79-30%) |
| HP:0001171 | Split hand | Frequent (79-30%) |
| HP:0001250 | Seizures | Frequent (79-30%) |
| HP:0001510 | Growth delay | Frequent (79-30%) |
| HP:0002353 | EEG abnormality | Frequent (79-30%) |
| HP:0004322 | Short stature | Frequent (79-30%) |
| HP:0008064 | Ichthyosis | Frequent (79-30%) |
| HP:0011842 | Abnormality of skeletal morphology | Frequent (79-30%) |
| HP:0200012 | Short corpus callosum | Frequent (79-30%) |
| HP:0000400 | Macrotia | Occasional (29-5%) |
| HP:0001371 | Flexion contracture | Occasional (29-5%) |
| HP:0002650 | Scoliosis | Occasional (29-5%) |
| HP:0005105 | Abnormal nasal morphology | Occasional (29-5%) |
Total: 0
| HPO ID | Term | # of case reports |
|---|