| Rank (Similarity) |
PMID (PMCID) |
|---|
|
|
Total: 47
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000028 | Cryptorchidism | Very frequent (99-80%) |
| HP:0000044 | Hypogonadotrophic hypogonadism | Very frequent (99-80%) |
| HP:0000054 | Micropenis | Very frequent (99-80%) |
| HP:0000252 | Microcephaly | Very frequent (99-80%) |
| HP:0000316 | Hypertelorism | Very frequent (99-80%) |
| HP:0000347 | Micrognathia | Very frequent (99-80%) |
| HP:0000411 | Protruding ear | Very frequent (99-80%) |
| HP:0000444 | Convex nasal ridge | Very frequent (99-80%) |
| HP:0000545 | Myopia | Very frequent (99-80%) |
| HP:0000771 | Gynecomastia | Very frequent (99-80%) |
| HP:0000786 | Primary amenorrhea | Very frequent (99-80%) |
| HP:0000823 | Delayed puberty | Very frequent (99-80%) |
| HP:0000912 | Sprengel anomaly | Very frequent (99-80%) |
| HP:0001123 | Visual field defect | Very frequent (99-80%) |
| HP:0001250 | Seizures | Very frequent (99-80%) |
| HP:0001263 | Global developmental delay | Very frequent (99-80%) |
| HP:0001270 | Motor delay | Very frequent (99-80%) |
| HP:0001328 | Specific learning disability | Very frequent (99-80%) |
| HP:0001562 | Oligohydramnios | Very frequent (99-80%) |
| HP:0001935 | Microcytic anemia | Very frequent (99-80%) |
| HP:0002553 | Highly arched eyebrow | Very frequent (99-80%) |
| HP:0002750 | Delayed skeletal maturation | Very frequent (99-80%) |
| HP:0003799 | Marked delay in bone age | Very frequent (99-80%) |
| HP:0004322 | Short stature | Very frequent (99-80%) |
| HP:0007642 | Congenital stationary night blindness | Very frequent (99-80%) |
| HP:0008527 | Congenital sensorineural hearing impairment | Very frequent (99-80%) |
| HP:0008734 | Decreased testicular size | Very frequent (99-80%) |
| HP:0008850 | Severe postnatal growth retardation | Very frequent (99-80%) |
| HP:0010055 | Broad hallux | Very frequent (99-80%) |
| HP:0011246 | Underdeveloped superior crus of antihelix | Very frequent (99-80%) |
| HP:0011343 | Moderate global developmental delay | Very frequent (99-80%) |
| HP:0011408 | Moderate intrauterine growth retardation | Very frequent (99-80%) |
| HP:0011968 | Feeding difficulties | Very frequent (99-80%) |
| HP:0012795 | Abnormality of the optic disc | Very frequent (99-80%) |
| HP:0100689 | Decreased corneal thickness | Very frequent (99-80%) |
| HP:0000193 | Bifid uvula | Frequent (79-30%) |
| HP:0000831 | Insulin-resistant diabetes mellitus | Frequent (79-30%) |
| HP:0001276 | Hypertonia | Frequent (79-30%) |
| HP:0001761 | Pes cavus | Frequent (79-30%) |
| HP:0001845 | Overlapping toe | Frequent (79-30%) |
| HP:0002857 | Genu valgum | Frequent (79-30%) |
| HP:0007266 | Cerebral dysmyelination | Frequent (79-30%) |
| HP:0009185 | Contracture of the proximal interphalangeal joint of the 5th finger | Frequent (79-30%) |
| HP:0011304 | Broad thumb | Frequent (79-30%) |
| HP:0001007 | Hirsutism | Occasional (29-5%) |
| HP:0002061 | Lower limb spasticity | Occasional (29-5%) |
| HP:0006353 | Hypoplasia of the tooth germ | Occasional (29-5%) |
Total: 0
| HPO ID | Term | # of case reports |
|---|
Total: 0
| Gene Symbol | Gene Name | Entrez Gene ID |
|---|