Xq27.3q28 duplication syndrome
MONDO:0010467Mondo
Findings
No curated finding names Xq27.3q28 duplication syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Xq27.3q28 duplication syndrome is a recently described syndrome characterized by short stature, hypogonadism, developmental delay and facial dysmorphism.
Definition from the Mondo Disease Ontology (MONDO:0010467), read 2026-09-29. CC BY 4.0.
- Inheritance
- X-linked recessive inheritance
HPO, annotations 2026-09-02
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.
- Bulbous noseHPOHP:0000414
- 3 of 3 reported patients
- Very frequent (80% to 99% of cases)
- CryptorchidismHPOHP:0000028
- 3 of 3 reported patients · Congenital onset
- Very frequent (80% to 99% of cases)
- Decreased serum testosterone concentrationHPOHP:0040171
- 3 of 3 reported patients
- Decreased testicular sizeHPOHP:0008734
- 3 of 3 reported patients
- Very frequent (80% to 99% of cases)
- Deeply set eyeHPOHP:0000490
- 3 of 3 reported patients
- Very frequent (80% to 99% of cases)
- Increased circulating gonadotropin levelHPOHP:0000837
Show the remaining 11
- Thin vermilion borderHPOHP:0000233
- 3 of 3 reported patients
- Very frequent (80% to 99% of cases)
- Abnormally high-pitched voiceHPOHP:0001620
- Very frequent (80% to 99% of cases)
- Failure to thriveHPOHP:0001508
- 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)
- Mild intellectual disabilityHPOHP:0001256
Where it sits
Other names
5 names
Resolves to: Xq27.3q28 duplication syndrome
- Also called
- chromosome xq27.3-q28 duplication syndrome, X-linked recessivedup(X)(q27.3q28)trisomy Xq27.3-q28trisomy Xq27.3q28Xq27.3-q28 microduplication syndrome