Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
abbreviation
|
| gptkbp:affects |
development
|
| gptkbp:causedBy |
mutations in HDAC8 gene
mutations in NIPBL gene mutations in RAD21 gene mutations in SMC1A gene mutations in SMC3 gene |
| gptkbp:diagnosedBy |
clinical evaluation
genetic testing |
| gptkbp:firstDescribed |
gptkb:Cornelia_de_Lange
1933 |
| https://www.w3.org/2000/01/rdf-schema#label |
CDLS
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:organization |
CdLS Foundation
|
| gptkbp:prevalence |
1 in 10,000 to 30,000 live births
|
| gptkbp:relatedTo |
genetic disorder
|
| gptkbp:standsFor |
Cornelia de Lange Syndrome
|
| gptkbp:symptom |
intellectual disability
distinctive facial features growth delays |
| gptkbp:treatment |
supportive care
|
| gptkbp:bfsParent |
gptkb:Club_de_Deportes_La_Serena
|
| gptkbp:bfsLayer |
7
|