20p12.3 microdeletion syndrome
MONDO:0016841Mondo
Findings
No curated finding names 20p12.3 microdeletion syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
20p12.3 microdeletion syndrome is a recently described syndrome characterized by Wolff-Parkinson-White syndrome, variable developmental delay and facial dysmorphism.
Definition from the Mondo Disease Ontology (MONDO:0016841), read 2026-09-29. CC BY 4.0.
Features
23 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
- Very frequent (80% to 99% of cases)
- HypertelorismHPOHP:0000316
- Very frequent (80% to 99% of cases)
- Downslanted palpebral fissuresHPOHP:0000494
- Frequent (30% to 79% of cases)
- EpicanthusHPOHP:0000286
- Frequent (30% to 79% of cases)
- Hypoplasia of the maxillaHPOHP:0000327
- Frequent (30% to 79% of cases)
- MacrocephalyHPOHP:0000256
- Frequent (30% to 79% of cases)
- Malar flatteningHPOHP:0000272
- Frequent (30% to 79% of cases)
- Narrow mouthHPOHP:0000160
- Frequent (30% to 79% of cases)
- Short statureHPOHP:0004322
- Frequent (30% to 79% of cases)
- Wolff-Parkinson-White syndromeHPOHP:0001716
- Frequent (30% to 79% of cases)
- Atrial septal defectHPOHP:0001631
- Occasional (5% to 29% of cases)
- Broad hallux phalanxHPOHP:0010059
- Occasional (5% to 29% of cases)
Show the remaining 11
- Broad thumbHPOHP:0011304
- Occasional (5% to 29% of cases)
- Depressed nasal bridgeHPOHP:0005280
- Occasional (5% to 29% of cases)
- Full cheeksHPOHP:0000293
- Occasional (5% to 29% of cases)
- HypotoniaHPOHP:0001252
- Occasional (5% to 29% of cases)
- Long philtrumHPOHP:0000343
- Occasional (5% to 29% of cases)
- MicrotiaHPOHP:0008551
- Occasional (5% to 29% of cases)
Where it sits
Other names
2 names
Resolves to: 20p12.3 microdeletion syndrome
- Also called
- Del(20)(p12.3)monosomy 20p12.3