chromosome 16p11.2 duplication syndrome
Findings
No curated finding names chromosome 16p11.2 duplication syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Proximal 16p11.2 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from a partial duplication of the short arm of chromosome 16 characterized by developmental delay and intellectual disability of a highly variable degree, autism spectrum, obsessive-compulsive, attention deficit hyperactivity disorder, speech articulation abnormalities, muscular hypotonia, tremor, hyper- or hyporeflexia, seizures, microcephaly, neuroimaging abnormalities, decreased body mass index and schizophrenia or bipolar disorder later on in life.
Definition from the Mondo Disease Ontology (MONDO:0013847), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance · Contiguous gene syndrome
HPO, annotations 2026-09-02
Features
39 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Delayed speech and language developmentHPOHP:0000750
- 10 of 10 reported patients
- Very frequent (80% to 99% of cases)
- Intellectual disabilityHPOHP:0001249
- 10 of 10 reported patients
- Very frequent (80% to 99% of cases)
- Abnormal basal ganglia MRI signal intensityHPOHP:0012751
- Very frequent (80% to 99% of cases)
- ArachnodactylyHPOHP:0001166
- Very frequent (80% to 99% of cases)
- Decreased body mass indexHPOHP:0045082
- Very frequent (80% to 99% of cases)
Where it sits
Other names
3 names
Resolves to: chromosome 16p11.2 duplication syndrome
- Also called
- proximal 16p11.2 microduplication syndromeproximal dup(16)(p11.2)proximal trisomy 16p11.2