20q11.2 microduplication syndrome
GPTKB entity
Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:affectsChromosome |
chromosome 20
|
| gptkbp:alternativeName |
Chromosome 20q11.2 duplication syndrome
|
| gptkbp:causedBy |
duplication of chromosome 20q11.2 region
|
| gptkbp:hasGeneticTest |
chromosomal microarray
|
| https://www.w3.org/2000/01/rdf-schema#label |
20q11.2 microduplication syndrome
|
| gptkbp:inheritance |
autosomal dominant
de novo |
| gptkbp:managedBy |
special education
speech therapy supportive therapy |
| gptkbp:OMIM |
613564
|
| gptkbp:onset |
infancy
|
| gptkbp:prevalence |
rare
|
| gptkbp:symptom |
gptkb:autism_spectrum_disorder
hypotonia intellectual disability developmental delay speech delay congenital anomalies behavioral problems |
| gptkbp:bfsParent |
gptkb:20q11.2
|
| gptkbp:bfsLayer |
8
|