16p13.11 microduplication syndrome
MONDO:0016837Mondo
Findings
No curated finding names 16p13.11 microduplication syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
16p13.11 microduplication syndrome is a recently described syndrome associated with variable clinical features including behavioral abnormalities, developmental delay, congenital heart defects and skeletal anomalies.
Definition from the Mondo Disease Ontology (MONDO:0016837), read 2026-09-29. CC BY 4.0.
Features
19 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.
- Attention deficit hyperactivity disorderHPOHP:0007018
- Frequent (30% to 79% of cases)
- Global developmental delayHPOHP:0001263
- Frequent (30% to 79% of cases)
- Hand polydactylyHPOHP:0001161
- Frequent (30% to 79% of cases)
- Intellectual disabilityHPOHP:0001249
- Frequent (30% to 79% of cases)
- Joint hypermobilityHPOHP:0001382
- Frequent (30% to 79% of cases)
- Language impairmentHPOHP:0002463
- Frequent (30% to 79% of cases)
- Aggressive behaviorHPOHP:0000718
- Occasional (5% to 29% of cases)
- ArachnodactylyHPOHP:0001166
- Occasional (5% to 29% of cases)
- Atrial septal defectHPOHP:0001631
- Occasional (5% to 29% of cases)
- AutismHPOHP:0000717
- Occasional (5% to 29% of cases)
- Coarctation of aortaHPOHP:0001680
- Occasional (5% to 29% of cases)
- CraniosynostosisHPOHP:0001363
- Occasional (5% to 29% of cases)
Show the remaining 7
- DolichocephalyHPOHP:0000268
- Occasional (5% to 29% of cases)
- Pectus excavatumHPOHP:0000767
- Occasional (5% to 29% of cases)
- Pes planusHPOHP:0001763
- Occasional (5% to 29% of cases)
- SchizophreniaHPOHP:0100753
- Occasional (5% to 29% of cases)
- Tetralogy of FallotHPOHP:0001636
- Occasional (5% to 29% of cases)
- Transposition of the great arteriesHPOHP:0001669
- Occasional (5% to 29% of cases)
Where it sits
Other names
3 names
Resolves to: 16p13.11 microduplication syndrome
- Also called
- 16p13.11 recurrent microduplication (neurocognitive disorder susceptibility locus)dup(16)(p13.11)trisomy 16p13.11