chromosome 3q29 microduplication syndrome
MONDO:0012761Mondo
Findings
No curated finding names chromosome 3q29 microduplication syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
3q29 microduplication is a chromosomal abnormality associated with variable clinical findings including mild or moderate intellectual deficit and microcephaly.
Definition from the Mondo Disease Ontology (MONDO:0012761), read 2026-09-29. CC BY 4.0.
Features
38 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.
- MicrocephalyHPOHP:0000252
- 4 of 5 reported patients
- Frequent (30% to 79% of cases)
- Bulbous noseHPOHP:0000414
- 3 of 4 reported patients
- Intellectual disabilityHPOHP:0001249
- 3 of 4 reported patients
- Frequent (30% to 79% of cases)
- Round faceHPOHP:0000311
- 3 of 4 reported patients
- Abnormality of the dentitionHPOHP:0000164
- Frequent (30% to 79% of cases)
- Downslanted palpebral fissuresHPOHP:0000494
- 1 of 4 reported patients
- Frequent (30% to 79% of cases)
- Global developmental delayHPOHP:0001263
- Frequent (30% to 79% of cases)
- HypotoniaHPOHP:0001252
- Frequent (30% to 79% of cases)
- ObesityHPOHP:0001513
- 3 of 5 reported patients
- Frequent (30% to 79% of cases)
- Multiple palmar creasesHPOHP:0006114
- 2 of 4 reported patients
- Pes planusHPOHP:0001763
- 2 of 4 reported patients
- Short noseHPOHP:0003196
- 2 of 4 reported patients
Show the remaining 26
- AniridiaHPOHP:0000526
- Occasional (5% to 29% of cases)
- Biparietal narrowingHPOHP:0004422
- Occasional (5% to 29% of cases)
- Camptodactyly of toeHPOHP:0001836
- Occasional (5% to 29% of cases)
- CataractHPOHP:0000518
- Occasional (5% to 29% of cases)
- Cleft palateHPOHP:0000175
- Occasional (5% to 29% of cases)
- CraniosynostosisHPOHP:0001363
- Occasional (5% to 29% of cases)
Where it sits
Other names
2 names
Resolves to: chromosome 3q29 microduplication syndrome
- Also called
- 3q29 microduplication syndrometrisomy 3q29