Rank (Similarity) |
PMID (PMCID) |
---|
|
Total: 15
HPO ID | Term | Frequency |
---|---|---|
HP:0000235 | Abnormality of the fontanelles or cranial sutures | Very frequent (99-80%) |
HP:0000252 | Microcephaly | Very frequent (99-80%) |
HP:0000316 | Hypertelorism | Very frequent (99-80%) |
HP:0000347 | Micrognathia | Very frequent (99-80%) |
HP:0000444 | Convex nasal ridge | Very frequent (99-80%) |
HP:0000494 | Downslanted palpebral fissures | Very frequent (99-80%) |
HP:0000518 | Cataract | Very frequent (99-80%) |
HP:0000543 | Optic disc pallor | Very frequent (99-80%) |
HP:0001250 | Seizures | Very frequent (99-80%) |
HP:0001639 | Hypertrophic cardiomyopathy | Very frequent (99-80%) |
HP:0002120 | Cerebral cortical atrophy | Very frequent (99-80%) |
HP:0002353 | EEG abnormality | Very frequent (99-80%) |
HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | Very frequent (99-80%) |
HP:0011304 | Broad thumb | Very frequent (99-80%) |
HP:0100672 | Vaginal hernia | Very frequent (99-80%) |
Total: 0
HPO ID | Term | # of case reports |
---|
Total: 0
Gene Symbol | Gene Name | Entrez Gene ID |
---|