Statements (30)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
syndrome |
| gptkbp:affects |
children
|
| gptkbp:complication |
scoliosis
seizures behavioral problems cardiac anomalies |
| gptkbp:firstDescribed |
gptkb:Juan_Sotos
1964 |
| gptkbp:hasOrphanetID |
2808
|
| https://www.w3.org/2000/01/rdf-schema#label |
Sotos syndrome 1
|
| gptkbp:ICD-10_code |
Q87.3
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:managedBy |
special education
physical therapy speech therapy regular monitoring supportive therapy |
| gptkbp:mutationAssociatedWith |
gptkb:NSD1_gene
|
| gptkbp:OMIM |
117550
|
| gptkbp:prevalence |
rare
|
| gptkbp:symptom |
intellectual disability
developmental delay macrocephaly distinctive facial features overgrowth advanced bone age |
| gptkbp:synonym |
gptkb:Cerebral_gigantism
|
| gptkbp:bfsParent |
gptkb:NSD1
|
| gptkbp:bfsLayer |
6
|