cardio-facio-cutaneous syndrome
GPTKB entity
Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:abbreviation |
gptkb:CFC_syndrome
|
| gptkbp:affects |
both males and females
|
| gptkbp:category |
gptkb:RASopathy
|
| gptkbp:firstDescribed |
1986
|
| gptkbp:frequency |
less than 300 cases reported worldwide
|
| https://www.w3.org/2000/01/rdf-schema#label |
cardio-facio-cutaneous syndrome
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:mutationAssociatedWith |
gptkb:MAP2K1_gene
gptkb:MAP2K2_gene gptkb:BRAF_gene gptkb:KRAS_gene |
| gptkbp:OMIM |
115150
|
| gptkbp:prevalence |
rare
|
| gptkbp:relatedTo |
gptkb:Costello_syndrome
gptkb:Noonan_syndrome |
| gptkbp:symptom |
intellectual disability
heart defects developmental delay distinctive facial features skin abnormalities |
| gptkbp:bfsParent |
gptkb:MEK2
|
| gptkbp:bfsLayer |
6
|