Statements (38)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:affects |
both males and females
|
| gptkbp:alsoKnownAs |
gptkb:CdLS
|
| gptkbp:category |
syndrome
rare disease developmental disorder |
| 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_Catharina_de_Lange
1933 |
| gptkbp:hasOrphanetID |
ORPHA199
|
| https://www.w3.org/2000/01/rdf-schema#label |
Cornelia de Lange syndrome
|
| gptkbp:inheritance |
autosomal dominant
X-linked dominant |
| gptkbp:OMIM |
122470
|
| 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:NIPBL
gptkb:PDS5B gptkb:RAD21 gptkb:SMC1A gptkb:SMC3 gptkb:cohesin_complex |
| gptkbp:bfsLayer |
6
|