2q23.1 microduplication syndrome
Findings
No curated finding names 2q23.1 microduplication syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
2q23.1 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 2, primarily characterized by global developmental delay, hypotonia, autistic-like features and behavioral problems. Craniofacial dysmorphism (arched eyebrows, hypertelorism, bilateral ptosis, prominent nose, wide mouth, micro/retrognathia) and an affable personality are also commonly associated. Minor digital anomalies (fifth finger clinodactyly and large, broad first toe) have occasionally been reported.
Definition from the Mondo Disease Ontology (MONDO:0017786), read 2026-09-29. CC BY 4.0.
Features
37 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.
- Abnormality of the outer earHPOHP:0000356
- Very frequent (80% to 99% of cases)
- Atypical behaviorHPOHP:0000708
- Very frequent (80% to 99% of cases)
- Autistic behaviorHPOHP:0000729
- Very frequent (80% to 99% of cases)
- Floppy infantHPOHP:0008947
- Very frequent (80% to 99% of cases)
- Global developmental delayHPOHP:0001263
- Very frequent (80% to 99% of cases)
- Motor delayHPOHP:0001270
- Very frequent (80% to 99% of cases)
Show the remaining 25
- Broad halluxHPOHP:0010055
- Frequent (30% to 79% of cases)
- Broad-based gaitHPOHP:0002136
- Frequent (30% to 79% of cases)
- Bulbous noseHPOHP:0000414
- Frequent (30% to 79% of cases)
- Clinodactyly of the 5th fingerHPOHP:0004209
- Frequent (30% to 79% of cases)
- Dental crowdingHPOHP:0000678
- Frequent (30% to 79% of cases)
- Highly arched eyebrowHPOHP:0002553
- Frequent (30% to 79% of cases)
Where it sits
Other names
2 names
Resolves to: 2q23.1 microduplication syndrome
- Also called
- dup(2)(q23.1)trisomy 2q23.1