| Rank (Similarity) |
PMID (PMCID) |
|---|
|
|
Total: 52
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000175 | Cleft palate | Frequent (79-30%) |
| HP:0000252 | Microcephaly | Frequent (79-30%) |
| HP:0000369 | Low-set ears | Frequent (79-30%) |
| HP:0000444 | Convex nasal ridge | Frequent (79-30%) |
| HP:0000494 | Downslanted palpebral fissures | Frequent (79-30%) |
| HP:0000520 | Proptosis | Frequent (79-30%) |
| HP:0000680 | Delayed eruption of primary teeth | Frequent (79-30%) |
| HP:0000776 | Congenital diaphragmatic hernia | Frequent (79-30%) |
| HP:0001087 | Developmental glaucoma | Frequent (79-30%) |
| HP:0001363 | Craniosynostosis | Frequent (79-30%) |
| HP:0001510 | Growth delay | Frequent (79-30%) |
| HP:0001511 | Intrauterine growth retardation | Frequent (79-30%) |
| HP:0002012 | Abnormality of the abdominal organs | Frequent (79-30%) |
| HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | Frequent (79-30%) |
| HP:0011344 | Severe global developmental delay | Frequent (79-30%) |
| HP:0030680 | Abnormality of cardiovascular system morphology | Frequent (79-30%) |
| HP:0000023 | Inguinal hernia | Occasional (29-5%) |
| HP:0000047 | Hypospadias | Occasional (29-5%) |
| HP:0000078 | Abnormality of the genital system | Occasional (29-5%) |
| HP:0000237 | Small anterior fontanelle | Occasional (29-5%) |
| HP:0000238 | Hydrocephalus | Occasional (29-5%) |
| HP:0000243 | Trigonocephaly | Occasional (29-5%) |
| HP:0000278 | Retrognathia | Occasional (29-5%) |
| HP:0000327 | Hypoplasia of the maxilla | Occasional (29-5%) |
| HP:0000347 | Micrognathia | Occasional (29-5%) |
| HP:0000348 | High forehead | Occasional (29-5%) |
| HP:0000453 | Choanal atresia | Occasional (29-5%) |
| HP:0000485 | Megalocornea | Occasional (29-5%) |
| HP:0000572 | Visual loss | Occasional (29-5%) |
| HP:0000592 | Blue sclerae | Occasional (29-5%) |
| HP:0000938 | Osteopenia | Occasional (29-5%) |
| HP:0000939 | Osteoporosis | Occasional (29-5%) |
| HP:0000954 | Single transverse palmar crease | Occasional (29-5%) |
| HP:0001269 | Hemiparesis | Occasional (29-5%) |
| HP:0001680 | Coarctation of aorta | Occasional (29-5%) |
| HP:0002021 | Pyloric stenosis | Occasional (29-5%) |
| HP:0002705 | High, narrow palate | Occasional (29-5%) |
| HP:0002714 | Downturned corners of mouth | Occasional (29-5%) |
| HP:0003194 | Short nasal bridge | Occasional (29-5%) |
| HP:0003196 | Short nose | Occasional (29-5%) |
| HP:0004439 | Craniofacial dysostosis | Occasional (29-5%) |
| HP:0004554 | Generalized hypertrichosis | Occasional (29-5%) |
| HP:0005211 | Midgut malrotation | Occasional (29-5%) |
| HP:0005442 | Widely patent coronal suture | Occasional (29-5%) |
| HP:0006695 | Atrioventricular canal defect | Occasional (29-5%) |
| HP:0007957 | Corneal opacity | Occasional (29-5%) |
| HP:0008033 | obsolete Congenital exotropia | Occasional (29-5%) |
| HP:0008689 | Bilateral cryptorchidism | Occasional (29-5%) |
| HP:0011087 | Talon cusp | Occasional (29-5%) |
| HP:0025247 | Dermoid cyst | Occasional (29-5%) |
| HP:0100538 | Abnormality of the supraorbital ridges | Occasional (29-5%) |
| HP:0001250 | Seizures | Very rare (4-1%) |
Total: 0
| HPO ID | Term | # of case reports |
|---|
Total: 0
| Gene Symbol | Gene Name | Entrez Gene ID |
|---|