Statements (17)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:affects |
gptkb:nervous_system
|
| gptkbp:alsoKnownAs |
X-linked intellectual disability-hypotonia-facial dysmorphism syndrome
|
| gptkbp:diagnosedBy |
genetic testing
|
| gptkbp:firstDescribed |
J. Engel
|
| https://www.w3.org/2000/01/rdf-schema#label |
Engel syndrome
|
| gptkbp:inheritance |
X-linked dominant
|
| gptkbp:mutationAssociatedWith |
USP9X gene
|
| gptkbp:OMIM |
300967
|
| gptkbp:prevalence |
rare
|
| gptkbp:symptom |
hypotonia
intellectual disability developmental delay facial dysmorphism |
| gptkbp:treatment |
supportive care
|
| gptkbp:bfsParent |
gptkb:Henry_Engel
|
| gptkbp:bfsLayer |
6
|