Statements (29)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
syndrome |
| gptkbp:affects |
both males and females
|
| gptkbp:alsoKnownAs |
gptkb:cerebral_gigantism
|
| gptkbp:characterizedBy |
learning disabilities
macrocephaly distinctive facial features overgrowth advanced bone age |
| gptkbp:diagnosedBy |
clinical evaluation
genetic testing |
| gptkbp:firstDescribed |
gptkb:Juan_Sotos
1964 |
| gptkbp:frequency |
1 in 14,000 births
|
| https://www.w3.org/2000/01/rdf-schema#label |
Sotos syndrome
|
| gptkbp:ICD-10_code |
Q87.1
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:mutationAssociatedWith |
gptkb:NSD1_gene
|
| gptkbp:OMIM |
117550
|
| gptkbp:prevalence |
rare
|
| gptkbp:symptom |
hypotonia
seizures developmental delay behavioral problems rapid growth in childhood |
| gptkbp:treatment |
supportive care
educational support |
| gptkbp:bfsParent |
gptkb:NSD1
|
| gptkbp:bfsLayer |
6
|