Statements (50)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:genetic_disorder
gptkb: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
|
| 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:intellectual_disability
gptkb:cardiovascular_disease gptkb:hypercalcemia 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 |
7
|
| https://www.w3.org/2000/01/rdf-schema#label |
Williams syndrome
|