14q11.2 microduplication syndrome
Findings
No curated finding names 14q11.2 microduplication syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
14q11.2 microduplication syndrome is a rare chromosomal anomaly characterized by developmental delay, mild to severe intellectual disability with speech impairment and epilepsy. Additionally, it may include dysmorphic features (such as hypo- or hypertelorism, dysplastic ears, short palpebral fissures), microcephaly or macrocephaly, behavioral abnormalities, stereotyped hand movements, ataxia, hypotonia, cleft palate.
Definition from the Mondo Disease Ontology (MONDO:0016835), read 2026-09-29. CC BY 4.0.
Features
24 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
- Very frequent (80% to 99% of cases)
- Neurodevelopmental delayHPOHP:0012758
- Very frequent (80% to 99% of cases)
- Aggressive behaviorHPOHP:0000718
- Frequent (30% to 79% of cases)
- Attention deficit hyperactivity disorderHPOHP:0007018
- Frequent (30% to 79% of cases)
- Generalized hypotoniaHPOHP:0001290
- Frequent (30% to 79% of cases)
- Intellectual disabilityHPOHP:0001249
- Frequent (30% to 79% of cases)
Show the remaining 12
- EpicanthusHPOHP:0000286
- Occasional (5% to 29% of cases)
- Exaggerated cupid's bowHPOHP:0002263
- Occasional (5% to 29% of cases)
- Feeding difficulties in infancyHPOHP:0008872
- Occasional (5% to 29% of cases)
- Highly arched eyebrowHPOHP:0002553
- Occasional (5% to 29% of cases)
- Horizontal nystagmusHPOHP:0000666
- Occasional (5% to 29% of cases)
- HypertelorismHPOHP:0000316
- Occasional (5% to 29% of cases)
Where it sits
Other names
2 names
Resolves to: 14q11.2 microduplication syndrome
- Also called
- dup(14)(q11.2)trisomy 14q11.2