Statements (50)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
rare disease |
| gptkbp:affects |
adults
children |
| gptkbp:cause |
deletion of genes on chromosome 7q11.23
|
| gptkbp:diagnosedBy |
genetic testing
|
| gptkbp:firstDescribed |
1961
|
| gptkbp:frequency |
1 in 7,500 to 1 in 10,000 live births
|
| https://www.w3.org/2000/01/rdf-schema#label |
Williams syndrome
|
| gptkbp:ICD-10_code |
Q93.8
|
| gptkbp:inheritance |
autosomal dominant
usually de novo |
| gptkbp:MeSH_ID |
D015746
|
| gptkbp:namedAfter |
J. C. P. Williams
|
| gptkbp:notableFeature |
anxiety
short stature learning disabilities dental problems wide mouth full lips joint laxity hyperactivity attention deficit upturned nose feeding difficulties in infancy friendly demeanor sensitivity to sound connective tissue abnormalities difficulty with spatial tasks elfin facial appearance musical affinity premature aging of the skin puffiness around the eyes small chin strong verbal abilities supravalvular aortic stenosis |
| gptkbp:OMIM |
194050
|
| gptkbp:symptom |
gptkb:cardiovascular_disease
gptkb:hypercalcemia intellectual disability developmental delay distinctive facial features musculoskeletal problems overfriendly personality |
| gptkbp:treatment |
supportive care
physical therapy speech therapy cardiac monitoring |
| gptkbp:bfsParent |
gptkb:chromosome_7
|
| gptkbp:bfsLayer |
6
|