20q11.2 microdeletion syndrome
GPTKB entity
Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:causedBy |
microdeletion of chromosome 20q11.2
|
| gptkbp:diagnosedBy |
gptkb:FISH
chromosomal microarray analysis |
| gptkbp:frequency |
rare
|
| gptkbp:hasGeneInvolved |
gptkb:GDF5
gptkb:ASXL1 gptkb:DNMT3B gptkb:SNTA1 |
| gptkbp:hasGeneticLocation |
chromosome 20q11.2
|
| gptkbp:hasOrphanetID |
ORPHA:414494
|
| https://www.w3.org/2000/01/rdf-schema#label |
20q11.2 microdeletion syndrome
|
| gptkbp:inheritance |
de novo
|
| gptkbp:OMIM |
613564
|
| gptkbp:symptom |
hypotonia
intellectual disability developmental delay congenital anomalies facial dysmorphism |
| gptkbp:treatment |
supportive care
symptomatic management |
| gptkbp:bfsParent |
gptkb:20q11.2
|
| gptkbp:bfsLayer |
8
|