47,XYY syndrome
Findings
No curated finding names 47,XYY syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
47, XYY syndrome is a sex chromosome aneuploidy where males receive an additional Y chromosome, and is characterized clinically by tall stature evident from childhood, macrocephaly, facial features (mild hypertelorism, low set ears, a mildly flat malar region), speech delay and an increased risk for social and emotional difficulties, attention deficit hyperactive disorder and autistic spectrum disorder.
Definition from the Mondo Disease Ontology (MONDO:0019339), read 2026-09-29. CC BY 4.0.
Features
45 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.
- Delayed speech and language developmentHPOHP:0000750
- Very frequent (80% to 99% of cases)
- Low-set earsHPOHP:0000369
- Very frequent (80% to 99% of cases)
- Malar flatteningHPOHP:0000272
- Very frequent (80% to 99% of cases)
- Motor delayHPOHP:0001270
- Very frequent (80% to 99% of cases)
- Tall statureHPOHP:0000098
- Very frequent (80% to 99% of cases)
- AsthmaHPOHP:0002099
- Frequent (30% to 79% of cases)
- Attention deficit hyperactivity disorder
Show the remaining 33
- HypertelorismHPOHP:0000316
- Frequent (30% to 79% of cases)
- ImpulsivityHPOHP:0100710
- Frequent (30% to 79% of cases)
- Intellectual disabilityHPOHP:0001249
- Frequent (30% to 79% of cases)
- MacrocephalyHPOHP:0000256
- Frequent (30% to 79% of cases)
- Neonatal hypotoniaHPOHP:0001319
- Frequent (30% to 79% of cases)
- Pes planusHPOHP:0001763
- Frequent (30% to 79% of cases)
Where it sits
- A kind of
Other names
7 names
Resolves to: 47,XYY syndrome
- Also called
- 47,XYYdisomy YDouble YDouble Y syndromeXYY karyotypeXYY SyndromeY disomy