Statements (64)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
rare disease |
| gptkbp:affects |
gptkb:skeletal_muscle
gptkb:nervous_system cardiovascular system musculoskeletal system |
| gptkbp:alsoKnownAs |
gptkb:Williams_syndrome
|
| gptkbp:associatedWith |
gptkb:ELN
gptkb:LIMK1 CLIP2 |
| gptkbp:causedBy |
deletion of 7q11.23
|
| gptkbp:characterizedBy |
gptkb:cardiovascular_disease
intellectual disability developmental delay distinctive facial features overfriendly personality supravalvular aortic stenosis |
| gptkbp:diagnosedBy |
genetic testing
|
| gptkbp:firstDescribed |
1961
A.J. Beuren J.C.P. Williams |
| https://www.w3.org/2000/01/rdf-schema#label |
Williams-Beuren syndrome
|
| gptkbp:ICD-10_code |
Q93.82
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:OMIM |
194050
|
| gptkbp:prevalence |
1 in 7,500 to 1 in 20,000 live births
|
| gptkbp:supportersGroup |
Williams Syndrome Association
Williams Syndrome Foundation |
| gptkbp:symptom |
gptkb:hypercalcemia
anxiety learning disabilities dental problems sleep problems strabismus wide mouth hernias attention deficit feeding difficulties in infancy sensitivity to sound kidney abnormalities broad forehead growth delays difficulty with spatial tasks musical affinity joint problems full cheeks good verbal abilities hoarse voice muscle tone abnormalities short nose with broad tip social disinhibition |
| gptkbp:treatment |
special education
physical therapy speech therapy cardiac surgery symptomatic management calcium level management |
| gptkbp:bfsParent |
gptkb:FZD9
gptkb:STX1A_gene gptkb:chromosome_7q21.2 gptkb:LAT_gene gptkb:WBSCR5 gptkb:GTF2I |
| gptkbp:bfsLayer |
8
|