Rank (Similarity) |
PMID (PMCID) |
---|
|
Total: 15
HPO ID | Term | Frequency |
---|---|---|
HP:0000270 | Delayed cranial suture closure | Frequent (79-30%) |
HP:0000347 | Micrognathia | Frequent (79-30%) |
HP:0000494 | Downslanted palpebral fissures | Frequent (79-30%) |
HP:0000586 | Shallow orbits | Frequent (79-30%) |
HP:0001166 | Arachnodactyly | Frequent (79-30%) |
HP:0001249 | Intellectual disability | Frequent (79-30%) |
HP:0001263 | Global developmental delay | Frequent (79-30%) |
HP:0002007 | Frontal bossing | Frequent (79-30%) |
HP:0003196 | Short nose | Frequent (79-30%) |
HP:0008947 | Infantile muscular hypotonia | Frequent (79-30%) |
HP:0010539 | Thin calvarium | Frequent (79-30%) |
HP:0010565 | Aplasia/Hypoplasia of the Epiglottis | Frequent (79-30%) |
HP:0011800 | Midface retrusion | Frequent (79-30%) |
HP:0011968 | Feeding difficulties | Frequent (79-30%) |
HP:0002104 | Apnea | Occasional (29-5%) |
Total: 0
HPO ID | Term | # of case reports |
---|
Total: 0
Gene Symbol | Gene Name | Entrez Gene ID |
---|