| Rank (Similarity) |
PMID (PMCID) |
|---|
|
|
Total: 25
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000028 | Cryptorchidism | Obligate (100%) |
| HP:0000252 | Microcephaly | Obligate (100%) |
| HP:0000303 | Mandibular prognathia | Obligate (100%) |
| HP:0001250 | Seizures | Obligate (100%) |
| HP:0001252 | Muscular hypotonia | Obligate (100%) |
| HP:0001999 | Abnormal facial shape | Obligate (100%) |
| HP:0002020 | Gastroesophageal reflux | Obligate (100%) |
| HP:0002719 | Recurrent infections | Obligate (100%) |
| HP:0008850 | Severe postnatal growth retardation | Obligate (100%) |
| HP:0000047 | Hypospadias | Frequent (79-30%) |
| HP:0000219 | Thin upper lip vermilion | Frequent (79-30%) |
| HP:0000407 | Sensorineural hearing impairment | Frequent (79-30%) |
| HP:0000411 | Protruding ear | Frequent (79-30%) |
| HP:0000678 | Dental crowding | Frequent (79-30%) |
| HP:0000954 | Single transverse palmar crease | Frequent (79-30%) |
| HP:0001182 | Tapered finger | Frequent (79-30%) |
| HP:0001601 | Laryngomalacia | Frequent (79-30%) |
| HP:0004415 | Pulmonary artery stenosis | Frequent (79-30%) |
| HP:0006101 | Finger syndactyly | Frequent (79-30%) |
| HP:0006380 | Knee flexion contracture | Frequent (79-30%) |
| HP:0006466 | Ankle flexion contracture | Frequent (79-30%) |
| HP:0009796 | Branchial cyst | Frequent (79-30%) |
| HP:0012033 | Sacral lipoma | Frequent (79-30%) |
| HP:0012385 | Camptodactyly | Frequent (79-30%) |
| HP:0100716 | Self-injurious behavior | Frequent (79-30%) |
Total: 0
| HPO ID | Term | # of case reports |
|---|