Rank (Similarity) |
PMID (PMCID) |
---|
|
Total: 33
HPO ID | Term | Frequency |
---|---|---|
HP:0000411 | Protruding ear | Very frequent (99-80%) |
HP:0001525 | Severe failure to thrive | Very frequent (99-80%) |
HP:0002187 | Intellectual disability, profound | Very frequent (99-80%) |
HP:0000028 | Cryptorchidism | Frequent (79-30%) |
HP:0000218 | High palate | Frequent (79-30%) |
HP:0000252 | Microcephaly | Frequent (79-30%) |
HP:0000347 | Micrognathia | Frequent (79-30%) |
HP:0000400 | Macrotia | Frequent (79-30%) |
HP:0000494 | Downslanted palpebral fissures | Frequent (79-30%) |
HP:0000954 | Single transverse palmar crease | Frequent (79-30%) |
HP:0001631 | Atrial septal defect | Frequent (79-30%) |
HP:0001636 | Tetralogy of Fallot | Frequent (79-30%) |
HP:0001642 | Pulmonic stenosis | Frequent (79-30%) |
HP:0001719 | Double outlet right ventricle | Frequent (79-30%) |
HP:0004691 | 2-3 toe syndactyly | Frequent (79-30%) |
HP:0011335 | Frontal hirsutism | Frequent (79-30%) |
HP:0011344 | Severe global developmental delay | Frequent (79-30%) |
HP:0000219 | Thin upper lip vermilion | Occasional (29-5%) |
HP:0000316 | Hypertelorism | Occasional (29-5%) |
HP:0000348 | High forehead | Occasional (29-5%) |
HP:0000403 | Recurrent otitis media | Occasional (29-5%) |
HP:0000431 | Wide nasal bridge | Occasional (29-5%) |
HP:0000486 | Strabismus | Occasional (29-5%) |
HP:0000961 | Cyanosis | Occasional (29-5%) |
HP:0001276 | Hypertonia | Occasional (29-5%) |
HP:0001643 | Patent ductus arteriosus | Occasional (29-5%) |
HP:0002179 | Opisthotonus | Occasional (29-5%) |
HP:0002623 | Overriding aorta | Occasional (29-5%) |
HP:0005278 | Hypoplastic nasal tip | Occasional (29-5%) |
HP:0005301 | Persistent left superior vena cava | Occasional (29-5%) |
HP:0007687 | Unilateral ptosis | Occasional (29-5%) |
HP:0100759 | Clubbing of fingers | Occasional (29-5%) |
HP:0100760 | Clubbing of toes | Occasional (29-5%) |
Total: 0
HPO ID | Term | # of case reports |
---|
Total: 0
Gene Symbol | Gene Name | Entrez Gene ID |
---|