Statements (22)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
overgrowth syndrome |
| gptkbp:affects |
children
|
| gptkbp:causedBy |
mutation in EZH2 gene
|
| gptkbp:differentialDiagnosis |
gptkb:Sotos_syndrome
gptkb:Marshall-Smith_syndrome |
| gptkbp:firstDescribed |
gptkb:David_Weaver
1974 |
| gptkbp:hasOrphanetID |
3457
|
| https://www.w3.org/2000/01/rdf-schema#label |
Weaver syndrome
|
| gptkbp:ICD-10_code |
Q87.1
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:OMIM |
277590
|
| gptkbp:prevalence |
rare
|
| gptkbp:symptom |
distinct facial features
intellectual disability macrocephaly accelerated growth advanced bone age |
| gptkbp:treatment |
supportive care
|
| gptkbp:bfsParent |
gptkb:NSD1
|
| gptkbp:bfsLayer |
6
|