Statements (32)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:abbreviation |
Cornelia de Lange Syndrome
|
| gptkbp:cause |
mutation in HDAC8 gene
mutation in NIPBL gene mutation in RAD21 gene mutation in SMC1A gene mutation in SMC3 gene |
| gptkbp:diagnosedBy |
clinical evaluation
genetic testing |
| gptkbp:firstDescribed |
gptkb:Cornelia_de_Lange
1933 |
| gptkbp:fullName |
Cornelia de Lange Syndrome
|
| gptkbp:hasOrphanetID |
ORPHA:199
|
| https://www.w3.org/2000/01/rdf-schema#label |
CdLS
|
| gptkbp:inheritance |
autosomal dominant
X-linked dominant |
| gptkbp:MeSH_ID |
gptkb:D003324
|
| gptkbp:OMIM |
122470
|
| gptkbp:organization |
CdLS Foundation
|
| gptkbp:prevalence |
1 in 10,000 to 30,000 live births
|
| gptkbp:symptom |
intellectual disability
distinctive facial features behavioral problems limb abnormalities growth delays |
| gptkbp:treatment |
supportive care
occupational therapy physical therapy speech therapy early intervention |
| gptkbp:bfsParent |
gptkb:Cornelia_de_Lange_syndrome
|
| gptkbp:bfsLayer |
7
|