| Rank (Similarity) |
PMID (PMCID) |
|---|
|
|
Total: 52
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000179 | Thick lower lip vermilion | Very frequent (99-80%) |
| HP:0000218 | High palate | Very frequent (99-80%) |
| HP:0000252 | Microcephaly | Very frequent (99-80%) |
| HP:0000270 | Delayed cranial suture closure | Very frequent (99-80%) |
| HP:0000325 | Triangular face | Very frequent (99-80%) |
| HP:0000347 | Micrognathia | Very frequent (99-80%) |
| HP:0000365 | Hearing impairment | Very frequent (99-80%) |
| HP:0000405 | Conductive hearing impairment | Very frequent (99-80%) |
| HP:0000520 | Proptosis | Very frequent (99-80%) |
| HP:0000582 | Upslanted palpebral fissure | Very frequent (99-80%) |
| HP:0000648 | Optic atrophy | Very frequent (99-80%) |
| HP:0000989 | Pruritus | Very frequent (99-80%) |
| HP:0001000 | Abnormality of skin pigmentation | Very frequent (99-80%) |
| HP:0001025 | Urticaria | Very frequent (99-80%) |
| HP:0001250 | Seizures | Very frequent (99-80%) |
| HP:0001252 | Muscular hypotonia | Very frequent (99-80%) |
| HP:0001284 | Areflexia | Very frequent (99-80%) |
| HP:0001482 | Subcutaneous nodule | Very frequent (99-80%) |
| HP:0001508 | Failure to thrive | Very frequent (99-80%) |
| HP:0002027 | Abdominal pain | Very frequent (99-80%) |
| HP:0002119 | Ventriculomegaly | Very frequent (99-80%) |
| HP:0004209 | Clinodactyly of the 5th finger | Very frequent (99-80%) |
| HP:0004322 | Short stature | Very frequent (99-80%) |
| HP:0007400 | Irregular hyperpigmentation | Very frequent (99-80%) |
| HP:0007440 | Generalized hyperpigmentation | Very frequent (99-80%) |
| HP:0008551 | Microtia | Very frequent (99-80%) |
| HP:0010783 | Erythema | Very frequent (99-80%) |
| HP:0012733 | Macule | Very frequent (99-80%) |
| HP:0100490 | Camptodactyly of finger | Very frequent (99-80%) |
| HP:0100495 | Mastocytosis | Very frequent (99-80%) |
| HP:0200034 | Papule | Very frequent (99-80%) |
| HP:0000336 | Prominent supraorbital ridges | Occasional (29-5%) |
| HP:0000431 | Wide nasal bridge | Occasional (29-5%) |
| HP:0000445 | Wide nose | Occasional (29-5%) |
| HP:0000737 | Irritability | Occasional (29-5%) |
| HP:0000924 | Abnormality of the skeletal system | Occasional (29-5%) |
| HP:0001072 | Thickened skin | Occasional (29-5%) |
| HP:0001249 | Intellectual disability | Occasional (29-5%) |
| HP:0002013 | Vomiting | Occasional (29-5%) |
| HP:0002090 | Pneumonia | Occasional (29-5%) |
| HP:0002093 | Respiratory insufficiency | Occasional (29-5%) |
| HP:0002615 | Hypotension | Occasional (29-5%) |
| HP:0002650 | Scoliosis | Occasional (29-5%) |
| HP:0003189 | Long nose | Occasional (29-5%) |
| HP:0011344 | Severe global developmental delay | Occasional (29-5%) |
| HP:0011675 | Arrhythmia | Occasional (29-5%) |
| HP:0012378 | Fatigue | Occasional (29-5%) |
| HP:0100326 | Immunologic hypersensitivity | Occasional (29-5%) |
| HP:0100559 | Lower limb asymmetry | Occasional (29-5%) |
| HP:0100585 | Telangiectasia of the skin | Occasional (29-5%) |
| HP:0100725 | Lichenification | Occasional (29-5%) |
| HP:0200037 | Skin vesicle | Occasional (29-5%) |
Total: 0
| HPO ID | Term | # of case reports |
|---|
Total: 0
| Gene Symbol | Gene Name | Entrez Gene ID |
|---|