48,XXXY syndrome
MONDO:0019928Mondo
Findings
No curated finding names 48,XXXY syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
The 48,XXXY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of two extra X chromosomes in males.
Definition from the Mondo Disease Ontology (MONDO:0019928), read 2026-09-29. CC BY 4.0.
Features
62 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.
- AzoospermiaHPOHP:0000027
- Very frequent (80% to 99% of cases)
- Decreased testicular sizeHPOHP:0008734
- Very frequent (80% to 99% of cases)
- Global developmental delayHPOHP:0001263
- Very frequent (80% to 99% of cases)
- HypogonadismHPOHP:0000135
- Very frequent (80% to 99% of cases)
- InfertilityHPOHP:0000789
- Very frequent (80% to 99% of cases)
- Language impairmentHPOHP:0002463
- Very frequent (80% to 99% of cases)
- Mild intellectual disabilityHPOHP:0001256
- Very frequent (80% to 99% of cases)
- Abnormal dental enamel morphologyHPOHP:0000682
- Frequent (30% to 79% of cases)
- Abnormal epiphysis morphologyHPOHP:0005930
- Frequent (30% to 79% of cases)
- AsthmaHPOHP:0002099
- Frequent (30% to 79% of cases)
- Attention deficit hyperactivity disorderHPOHP:0007018
- Frequent (30% to 79% of cases)
- AutismHPOHP:0000717
- Frequent (30% to 79% of cases)
Show the remaining 50
- Carious teethHPOHP:0000670
- Frequent (30% to 79% of cases)
- Chronic otitis mediaHPOHP:0000389
- Frequent (30% to 79% of cases)
- Clinodactyly of the 5th fingerHPOHP:0004209
- Frequent (30% to 79% of cases)
- ConstipationHPOHP:0002019
- Frequent (30% to 79% of cases)
- CryptorchidismHPOHP:0000028
- Frequent (30% to 79% of cases)
- Delayed eruption of teethHPOHP:0000684
- Frequent (30% to 79% of cases)
Where it sits
Other names
1 name
Resolves to: 48,XXXY syndrome
- Also called
- 48, XXXY syndrome