Rank (Similarity) |
PMID (PMCID) |
---|
|
Total: 31
HPO ID | Term | Frequency |
---|---|---|
HP:0000219 | Thin upper lip vermilion | Very frequent (99-80%) |
HP:0000248 | Brachycephaly | Very frequent (99-80%) |
HP:0000252 | Microcephaly | Very frequent (99-80%) |
HP:0000311 | Round face | Very frequent (99-80%) |
HP:0000316 | Hypertelorism | Very frequent (99-80%) |
HP:0000341 | Narrow forehead | Very frequent (99-80%) |
HP:0000431 | Wide nasal bridge | Very frequent (99-80%) |
HP:0000664 | Synophrys | Very frequent (99-80%) |
HP:0000851 | Congenital hypothyroidism | Very frequent (99-80%) |
HP:0001182 | Tapered finger | Very frequent (99-80%) |
HP:0001252 | Muscular hypotonia | Very frequent (99-80%) |
HP:0001263 | Global developmental delay | Very frequent (99-80%) |
HP:0001321 | Cerebellar hypoplasia | Very frequent (99-80%) |
HP:0001513 | Obesity | Very frequent (99-80%) |
HP:0001999 | Abnormal facial shape | Very frequent (99-80%) |
HP:0002047 | Malignant hyperthermia | Very frequent (99-80%) |
HP:0002079 | Hypoplasia of the corpus callosum | Very frequent (99-80%) |
HP:0002120 | Cerebral cortical atrophy | Very frequent (99-80%) |
HP:0002265 | Large fleshy ears | Very frequent (99-80%) |
HP:0002714 | Downturned corners of mouth | Very frequent (99-80%) |
HP:0004209 | Clinodactyly of the 5th finger | Very frequent (99-80%) |
HP:0007052 | Multifocal cerebral white matter abnormalities | Very frequent (99-80%) |
HP:0007642 | Congenital stationary night blindness | Very frequent (99-80%) |
HP:0009891 | Underdeveloped supraorbital ridges | Very frequent (99-80%) |
HP:0010864 | Intellectual disability, severe | Very frequent (99-80%) |
HP:0012443 | Abnormality of brain morphology | Very frequent (99-80%) |
HP:0000286 | Epicanthus | Frequent (79-30%) |
HP:0000377 | Abnormality of the pinna | Frequent (79-30%) |
HP:0001250 | Seizures | Frequent (79-30%) |
HP:0002123 | Generalized myoclonic seizures | Frequent (79-30%) |
HP:0011228 | Horizontal eyebrow | Frequent (79-30%) |
Total: 0
HPO ID | Term | # of case reports |
---|