Rank (Similarity) |
PMID (PMCID) |
---|
|
Total: 28
HPO ID | Term | Frequency |
---|---|---|
HP:0000243 | Trigonocephaly | Very frequent (99-80%) |
HP:0000286 | Epicanthus | Very frequent (99-80%) |
HP:0000308 | Microretrognathia | Very frequent (99-80%) |
HP:0000368 | Low-set, posteriorly rotated ears | Very frequent (99-80%) |
HP:0000823 | Delayed puberty | Very frequent (99-80%) |
HP:0001249 | Intellectual disability | Very frequent (99-80%) |
HP:0002007 | Frontal bossing | Very frequent (99-80%) |
HP:0004322 | Short stature | Very frequent (99-80%) |
HP:0008046 | Abnormal retinal vascular morphology | Very frequent (99-80%) |
HP:0008499 | High hypermetropia | Very frequent (99-80%) |
HP:0008551 | Microtia | Very frequent (99-80%) |
HP:0009775 | Amniotic constriction ring | Very frequent (99-80%) |
HP:0012368 | Flat face | Very frequent (99-80%) |
HP:0000164 | Abnormality of the dentition | Frequent (79-30%) |
HP:0000175 | Cleft palate | Frequent (79-30%) |
HP:0000252 | Microcephaly | Frequent (79-30%) |
HP:0000316 | Hypertelorism | Frequent (79-30%) |
HP:0000470 | Short neck | Frequent (79-30%) |
HP:0000821 | Hypothyroidism | Frequent (79-30%) |
HP:0001166 | Arachnodactyly | Frequent (79-30%) |
HP:0001376 | Limitation of joint mobility | Frequent (79-30%) |
HP:0002564 | obsolete Malformation of the heart and great vessels | Frequent (79-30%) |
HP:0006101 | Finger syndactyly | Frequent (79-30%) |
HP:0000494 | Downslanted palpebral fissures | Occasional (29-5%) |
HP:0001199 | Triphalangeal thumb | Occasional (29-5%) |
HP:0004397 | Ectopic anus | Occasional (29-5%) |
HP:0009882 | Short distal phalanx of finger | 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 |
---|