15q11.2 microdeletion syndrome
GPTKB entity
Statements (29)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:alsoKnownAs |
gptkb:Burnside-Butler_syndrome
|
| gptkbp:associatedWith |
gptkb:CYFIP1
gptkb:NIPA1 gptkb:NIPA2 TUBGCP5 |
| gptkbp:category |
neurological disorder
chromosomal microdeletion syndrome |
| gptkbp:causedBy |
microdeletion on chromosome 15
|
| gptkbp:diagnosedBy |
chromosomal microarray analysis
|
| gptkbp:firstDescribed |
2007
|
| gptkbp:frequency |
1 in 5,000 to 1 in 10,000 births
|
| https://www.w3.org/2000/01/rdf-schema#label |
15q11.2 microdeletion syndrome
|
| gptkbp:inheritance |
autosomal dominant
de novo |
| gptkbp:locatedOnChromosome |
15q11.2
|
| gptkbp:namedAfter |
gptkb:Margaret_Burnside
gptkb:Merlin_Butler |
| gptkbp:OMIM |
615656
|
| gptkbp:symptom |
gptkb:autism_spectrum_disorder
epilepsy developmental delay learning difficulties motor delay speech delay congenital anomalies behavioral problems |
| gptkbp:bfsParent |
gptkb:CYFIP1
|
| gptkbp:bfsLayer |
7
|