Statements (52)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:affects |
adults
children |
| gptkbp:alsoKnownAs |
gptkb:16p11.2_microdeletion_syndrome
|
| gptkbp:associatedWith |
gptkb:autism_spectrum_disorder
obesity intellectual disability seizures developmental delay speech and language impairment |
| gptkbp:causedBy |
microdeletion on chromosome 16p11.2
|
| gptkbp:diagnosedBy |
chromosomal microarray analysis
|
| gptkbp:firstDescribed |
2007
|
| gptkbp:frequency |
rare
|
| gptkbp:hasOrphanetID |
ORPHA:261402
|
| https://www.w3.org/2000/01/rdf-schema#label |
16p11.2 deletion syndrome
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:locatedOnChromosome |
gptkb:16p11.2
|
| gptkbp:OMIM |
611913
|
| gptkbp:prevalence |
~1 in 2000 individuals with autism spectrum disorder
|
| gptkbp:symptom |
epilepsy
ADHD anxiety short stature sleep disturbances aggression scoliosis vision problems hearing loss gastrointestinal problems macrocephaly microcephaly feeding difficulties learning difficulties overgrowth congenital anomalies hyperactivity impulsivity behavioral problems psychiatric disorders facial dysmorphism social difficulties anomalies of the brain structure delayed milestones motor coordination problems |
| gptkbp:treatment |
behavioral therapy
occupational therapy speech therapy educational support supportive therapy |
| gptkbp:bfsParent |
gptkb:16p11.2
|
| gptkbp:bfsLayer |
6
|