Statements (25)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
syndrome
|
| gptkbp:affects |
children
|
| gptkbp:alsoKnownAs |
gptkb:Sotos_syndrome
|
| gptkbp:associatedWith |
scoliosis
seizures behavioral problems cardiac anomalies |
| gptkbp:causedBy |
mutations in NSD1 gene
|
| gptkbp:characterizedBy |
learning disabilities
developmental delay macrocephaly advanced bone age excessive physical growth during childhood |
| gptkbp:diagnosedBy |
clinical evaluation
genetic testing |
| gptkbp:firstDescribed |
gptkb:Juan_Sotos
1964 |
| https://www.w3.org/2000/01/rdf-schema#label |
Cerebral gigantism
|
| gptkbp:ICD-10_code |
Q87.1
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:OMIM |
117550
|
| gptkbp:prevalence |
rare
|
| gptkbp:treatment |
supportive care
|
| gptkbp:bfsParent |
gptkb:Sotos_syndrome_1
|
| gptkbp:bfsLayer |
7
|