Statements (38)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
syndrome |
| gptkbp:affects |
humans
|
| gptkbp:alsoKnownAs |
Broad Thumb-Hallux Syndrome
|
| gptkbp:diagnosedBy |
clinical evaluation
genetic testing |
| gptkbp:firstDescribed |
1963
Hooshang Taybi Jack Rubinstein |
| gptkbp:hasExternalResource |
gptkb:Genetics_Home_Reference
gptkb:Orphanet NIH Genetic and Rare Diseases Information Center |
| https://www.w3.org/2000/01/rdf-schema#label |
Rubinstein-Taybi syndrome
|
| gptkbp:ICD-10_code |
Q87.2
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:mutationAssociatedWith |
CREBBP gene
EP300 gene |
| gptkbp:OMIM |
180849
|
| gptkbp:prevalence |
1 in 100,000 to 125,000 live births
|
| gptkbp:riskFactor |
congenital heart defects
dental problems respiratory infections feeding difficulties increased risk of tumors behavioral problems eye abnormalities |
| gptkbp:symptom |
intellectual disability
short stature distinctive facial features broad thumbs broad big toes |
| gptkbp:treatment |
supportive care
occupational therapy physical therapy speech therapy |
| gptkbp:bfsParent |
gptkb:CREB-binding_protein
gptkb:chromosome_16p13.3 |
| gptkbp:bfsLayer |
7
|