Statements (20)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:alsoKnownAs |
gptkb:15q11.2_microdeletion_syndrome
|
| gptkbp:associatedWith |
gptkb:autism_spectrum_disorder
developmental delay speech delay behavioral problems |
| gptkbp:causedBy |
microdeletion on chromosome 15q11.2
|
| gptkbp:diagnosedBy |
chromosomal microarray analysis
|
| gptkbp:firstDescribed |
Robert D. Burnside
Robert D. Butler |
| https://www.w3.org/2000/01/rdf-schema#label |
Burnside-Butler syndrome
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:locatedOnChromosome |
15q11.2
|
| gptkbp:OMIM |
615656
|
| gptkbp:prevalence |
rare
|
| gptkbp:symptom |
epilepsy
learning difficulties motor delay |
| gptkbp:bfsParent |
gptkb:15q11.2_microdeletion_syndrome
|
| gptkbp:bfsLayer |
8
|