16p11.2 duplication syndrome
GPTKB entity
Statements (28)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:causedBy |
duplication of 16p11.2 chromosomal region
|
| gptkbp:hasDiagnosticMethod |
chromosomal microarray analysis
|
| gptkbp:hasGeneticLocation |
gptkb:16p11.2
gptkb:chromosome_16 |
| gptkbp:hasOrphanetID |
ORPHA:261402
|
| https://www.w3.org/2000/01/rdf-schema#label |
16p11.2 duplication syndrome
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:managedBy |
behavioral therapy
special education occupational therapy speech therapy supportive therapy |
| gptkbp:OMIM |
614671
|
| gptkbp:prevalence |
rare
|
| gptkbp:relatedTo |
gptkb:16p11.2_deletion_syndrome
|
| gptkbp:symptom |
gptkb:autism_spectrum_disorder
obesity intellectual disability learning disabilities seizures developmental delay behavioral problems psychiatric disorders motor coordination difficulties speech and language delay |
| gptkbp:bfsParent |
gptkb:16p11.2
|
| gptkbp:bfsLayer |
6
|