20p13 microdeletion syndrome
Findings
No curated finding names 20p13 microdeletion syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
20p13 microdeletion syndrome is a rare chromosomal anomaly characterized by developmental delay, mild to moderate intellectual disability, epilepsy, and unspecific dysmorphic signs. High palate, delayed permanent tooth eruption, hypoplastic fingernails, clinodactyly and short fingers have also been reported.
Definition from the Mondo Disease Ontology (MONDO:0017780), read 2026-09-29. CC BY 4.0.
Features
35 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.
- Motor delayHPOHP:0001270
- Very frequent (80% to 99% of cases)
- Abnormal pinna morphologyHPOHP:0000377
- Frequent (30% to 79% of cases)
- Decreased body weightHPOHP:0004325
- Frequent (30% to 79% of cases)
- Delayed speech and language developmentHPOHP:0000750
- Frequent (30% to 79% of cases)
- EEG abnormalityHPOHP:0002353
- Frequent (30% to 79% of cases)
- Failure to thrive in infancyHPOHP:0001531
- Frequent (30% to 79% of cases)
- Highly arched eyebrowHPOHP:0002553
- Frequent (30% to 79% of cases)
- Intellectual disabilityHPOHP:0001249
- Frequent (30% to 79% of cases)
- Low-set earsHPOHP:0000369
- Frequent (30% to 79% of cases)
- Poor head controlHPOHP:0002421
- Frequent (30% to 79% of cases)
- Prominent foreheadHPOHP:0011220
- Frequent (30% to 79% of cases)
- Prominent nasal bridgeHPOHP:0000426
- Frequent (30% to 79% of cases)
Show the remaining 23
- SeizureHPOHP:0001250
- Frequent (30% to 79% of cases)
- Small nailHPOHP:0001792
- Frequent (30% to 79% of cases)
- Smooth philtrumHPOHP:0000319
- Frequent (30% to 79% of cases)
- Thin upper lip vermilionHPOHP:0000219
- Frequent (30% to 79% of cases)
- Wide anterior fontanelHPOHP:0000260
- Frequent (30% to 79% of cases)
- BrachydactylyHPOHP:0001156
- Occasional (5% to 29% of cases)
Where it sits
Other names
3 names
Resolves to: 20p13 microdeletion syndrome
- Also called
- 20p subtelomeric deletion syndromeDel(20)(p13)monosomy 20p13