Rank (Similarity) |
PMID (PMCID) |
---|
|
Total: 29
HPO ID | Term | Frequency |
---|---|---|
HP:0000508 | Ptosis | Very frequent (99-80%) |
HP:0001249 | Intellectual disability | Very frequent (99-80%) |
HP:0002612 | Congenital hepatic fibrosis | Very frequent (99-80%) |
HP:0000003 | Multicystic kidney dysplasia | Frequent (79-30%) |
HP:0000107 | Renal cyst | Frequent (79-30%) |
HP:0000162 | Glossoptosis | Frequent (79-30%) |
HP:0000364 | Hearing abnormality | Frequent (79-30%) |
HP:0000368 | Low-set, posteriorly rotated ears | Frequent (79-30%) |
HP:0000411 | Protruding ear | Frequent (79-30%) |
HP:0000430 | Underdeveloped nasal alae | Frequent (79-30%) |
HP:0000463 | Anteverted nares | Frequent (79-30%) |
HP:0000478 | Abnormality of the eye | Frequent (79-30%) |
HP:0000486 | Strabismus | Frequent (79-30%) |
HP:0000504 | Abnormality of vision | Frequent (79-30%) |
HP:0000505 | Visual impairment | Frequent (79-30%) |
HP:0000567 | Chorioretinal coloboma | Frequent (79-30%) |
HP:0000581 | Blepharophimosis | Frequent (79-30%) |
HP:0000639 | Nystagmus | Frequent (79-30%) |
HP:0001250 | Seizures | Frequent (79-30%) |
HP:0001276 | Hypertonia | Frequent (79-30%) |
HP:0002093 | Respiratory insufficiency | Frequent (79-30%) |
HP:0002119 | Ventriculomegaly | Frequent (79-30%) |
HP:0002435 | Meningocele | Frequent (79-30%) |
HP:0003196 | Short nose | Frequent (79-30%) |
HP:0004209 | Clinodactyly of the 5th finger | Frequent (79-30%) |
HP:0004322 | Short stature | Frequent (79-30%) |
HP:0004422 | Biparietal narrowing | Frequent (79-30%) |
HP:0007477 | Abnormal dermatoglyphics | Frequent (79-30%) |
HP:0100022 | Abnormality of movement | Frequent (79-30%) |
Total: 0
HPO ID | Term | # of case reports |
---|
Total: 0
Gene Symbol | Gene Name | Entrez Gene ID |
---|