chromosome 3q29 microdeletion syndrome
MONDO:0012269Mondo
Findings
No curated finding names chromosome 3q29 microdeletion syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
3q29 microdeletion syndrome is a recurrent subtelomeric deletion syndrome with variable clinical manifestations including intellectual deficit and dysmorphic features.
Definition from the Mondo Disease Ontology (MONDO:0012269), read 2026-09-29. CC BY 4.0.
Features
47 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.
- Global developmental delayHPOHP:0001263
- Infantile onset
- Very frequent (80% to 99% of cases)
- Intellectual disabilityHPOHP:0001249
- Very frequent (80% to 99% of cases)
- Delayed speech and language developmentHPOHP:0000750
- Frequent (30% to 79% of cases)
- Everted lower lip vermilionHPOHP:0000232
- Frequent (30% to 79% of cases)
- Low-set earsHPOHP:0000369
- Frequent (30% to 79% of cases)
- MacrotiaHPOHP:0000400
- Frequent (30% to 79% of cases)
- MicrocephalyHPOHP:0000252
- Frequent (30% to 79% of cases)
- Prominent nasal bridgeHPOHP:0000426
- Frequent (30% to 79% of cases)
- Short philtrumHPOHP:0000322
- Frequent (30% to 79% of cases)
- Abnormal skin pigmentationHPOHP:0001000
- Occasional (5% to 29% of cases)
- Abnormality of the dentitionHPOHP:0000164
- Occasional (5% to 29% of cases)
- Aggressive behaviorHPOHP:0000718
- Occasional (5% to 29% of cases)
Show the remaining 35
- AnxietyHPOHP:0000739
- Occasional (5% to 29% of cases)
- Attention deficit hyperactivity disorderHPOHP:0007018
- Occasional (5% to 29% of cases)
- AutismHPOHP:0000717
- Occasional (5% to 29% of cases)
- Bipolar affective disorderHPOHP:0007302
- Occasional (5% to 29% of cases)
- CataractHPOHP:0000518
- Occasional (5% to 29% of cases)
- Clinodactyly of the 5th fingerHPOHP:0004209
- Occasional (5% to 29% of cases)
Where it sits
Other names
7 names
Resolves to: chromosome 3q29 microdeletion syndrome
- Also called
- 3q subtelomere deletion syndrome3q29 microdeletion syndrome3qter deletionchromosome 3q29 microdeletion syndrome, isolated casesDel(3)(q29)monosomy 3q29monosomy 3qter