Rank (Similarity) |
PMID (PMCID) |
---|
|
Total: 26
HPO ID | Term | Frequency |
---|---|---|
HP:0000178 | Abnormality of lower lip | Very frequent (99-80%) |
HP:0011333 | Asymmetric crying face | Very frequent (99-80%) |
HP:0000028 | Cryptorchidism | Frequent (79-30%) |
HP:0000076 | Vesicoureteral reflux | Frequent (79-30%) |
HP:0000175 | Cleft palate | Frequent (79-30%) |
HP:0000252 | Microcephaly | Frequent (79-30%) |
HP:0000347 | Micrognathia | Frequent (79-30%) |
HP:0000411 | Protruding ear | Frequent (79-30%) |
HP:0000776 | Congenital diaphragmatic hernia | Frequent (79-30%) |
HP:0001276 | Hypertonia | Frequent (79-30%) |
HP:0001387 | Joint stiffness | Frequent (79-30%) |
HP:0002093 | Respiratory insufficiency | Frequent (79-30%) |
HP:0002120 | Cerebral cortical atrophy | Frequent (79-30%) |
HP:0004322 | Short stature | Frequent (79-30%) |
HP:0005562 | Multiple renal cysts | Frequent (79-30%) |
HP:0008678 | Renal hypoplasia/aplasia | Frequent (79-30%) |
HP:0009804 | Reduced number of teeth | Frequent (79-30%) |
HP:0001263 | Global developmental delay | Occasional (29-5%) |
HP:0001629 | Ventricular septal defect | Occasional (29-5%) |
HP:0001636 | Tetralogy of Fallot | Occasional (29-5%) |
HP:0001679 | Abnormal aortic morphology | Occasional (29-5%) |
HP:0002086 | Abnormality of the respiratory system | Occasional (29-5%) |
HP:0002564 | obsolete Malformation of the heart and great vessels | Occasional (29-5%) |
HP:0003272 | Abnormality of the hip bone | Occasional (29-5%) |
HP:0003422 | Vertebral segmentation defect | Occasional (29-5%) |
HP:0004414 | Abnormality of the pulmonary artery | Occasional (29-5%) |
Total: 0
HPO ID | Term | # of case reports |
---|
Total: 0
Gene Symbol | Gene Name | Entrez Gene ID |
---|