Statements (24)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:alsoKnownAs |
17q21.31 microdeletion syndrome
|
| gptkbp:causedBy |
microdeletion of chromosome 17q21.31
mutation in KANSL1 gene |
| gptkbp:diagnosedBy |
genetic testing
|
| gptkbp:firstDescribed |
2006
Bert B.A. de Vries David A. Koolen |
| https://www.w3.org/2000/01/rdf-schema#label |
Koolen–de Vries syndrome
|
| gptkbp:ICD-10_code |
Q93.5
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:namedAfter |
Bert B.A. de Vries
David A. Koolen |
| gptkbp:OMIM |
610443
|
| gptkbp:prevalence |
rare
|
| gptkbp:symptom |
epilepsy
congenital heart defects hypotonia intellectual disability distinctive facial features friendly behavior |
| gptkbp:bfsParent |
gptkb:17q21.31_(human)
gptkb:17q21.33 |
| gptkbp:bfsLayer |
8
|