trisomy 20p
MONDO:0016844Mondo
Findings
No curated finding names trisomy 20p yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Trisomy 20p is a chromosomal disorder resulting from duplication of all or part of the short arm of chromosome 20. It is mostly characterized by normal growth, mild to moderate intellectual disability, speech delay, poor coordination and evocative facial features.
Definition from the Mondo Disease Ontology (MONDO:0016844), read 2026-09-29. CC BY 4.0.
Features
71 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.
- Abnormal autonomic nervous system physiologyHPOHP:0012332
- Very frequent (80% to 99% of cases)
- Abnormal facial shapeHPOHP:0001999
- Very frequent (80% to 99% of cases)
- Abnormal speech patternHPOHP:0002167
- Very frequent (80% to 99% of cases)
- Abnormal vertebral body morphologyHPOHP:0003312
- Very frequent (80% to 99% of cases)
- Abnormality of chromosome segregationHPOHP:0002916
- Very frequent (80% to 99% of cases)
- Cognitive impairmentHPOHP:0100543
- Very frequent (80% to 99% of cases)
- Full cheeksHPOHP:0000293
- Very frequent (80% to 99% of cases)
- Gait disturbanceHPOHP:0001288
- Very frequent (80% to 99% of cases)
- HerniaHPOHP:0100790
- Very frequent (80% to 99% of cases)
- Highly arched eyebrowHPOHP:0002553
- Very frequent (80% to 99% of cases)
- HypotoniaHPOHP:0001252
- Very frequent (80% to 99% of cases)
- IncoordinationHPOHP:0002311
- Very frequent (80% to 99% of cases)
Show the remaining 59
- Joint hypermobilityHPOHP:0001382
- Very frequent (80% to 99% of cases)
- Protruding earHPOHP:0000411
- Very frequent (80% to 99% of cases)
- Round faceHPOHP:0000311
- Very frequent (80% to 99% of cases)
- Short neckHPOHP:0000470
- Very frequent (80% to 99% of cases)
- Thick eyebrowHPOHP:0000574
- Very frequent (80% to 99% of cases)
- Abnormal foot morphologyHPOHP:0001760
- Frequent (30% to 79% of cases)
Where it sits
- A kind of
Other names
7 names
Resolves to: trisomy 20p
- Also called
- dup(20p)Duplication of 20ppartial duplication of chromosome 20ppartial duplication of the short arm of chromosome 20partial trisomy of chromosome 20ppartial trisomy of the short arm of chromosome 20trisomy type 20p