Rank (Similarity) |
PMID (PMCID) |
---|
|
Total: 25
HPO ID | Term | Frequency |
---|---|---|
HP:0001162 | Postaxial hand polydactyly | Very frequent (99-80%) |
HP:0002187 | Intellectual disability, profound | Very frequent (99-80%) |
HP:0000303 | Mandibular prognathia | Frequent (79-30%) |
HP:0001344 | Absent speech | Frequent (79-30%) |
HP:0001830 | Postaxial foot polydactyly | Frequent (79-30%) |
HP:0001831 | Short toe | Frequent (79-30%) |
HP:0002069 | Generalized tonic-clonic seizures | Frequent (79-30%) |
HP:0002465 | Poor speech | Frequent (79-30%) |
HP:0010554 | Cutaneous finger syndactyly | Frequent (79-30%) |
HP:0000218 | High palate | Occasional (29-5%) |
HP:0000252 | Microcephaly | Occasional (29-5%) |
HP:0000322 | Short philtrum | Occasional (29-5%) |
HP:0000385 | Small earlobe | Occasional (29-5%) |
HP:0000387 | Absent earlobe | Occasional (29-5%) |
HP:0000574 | Thick eyebrow | Occasional (29-5%) |
HP:0000689 | Dental malocclusion | Occasional (29-5%) |
HP:0001212 | Prominent fingertip pads | Occasional (29-5%) |
HP:0001511 | Intrauterine growth retardation | Occasional (29-5%) |
HP:0001812 | Hyperconvex fingernails | Occasional (29-5%) |
HP:0002558 | Supernumerary nipple | Occasional (29-5%) |
HP:0002650 | Scoliosis | Occasional (29-5%) |
HP:0002987 | Elbow flexion contracture | Occasional (29-5%) |
HP:0004209 | Clinodactyly of the 5th finger | Occasional (29-5%) |
HP:0006380 | Knee flexion contracture | Occasional (29-5%) |
HP:0100490 | Camptodactyly of finger | Occasional (29-5%) |
Total: 0
HPO ID | Term | # of case reports |
---|
Total: 0
Gene Symbol | Gene Name | Entrez Gene ID |
---|