isochromosomy Yp
MONDO:0020304Mondo
Findings
No curated finding names isochromosomy Yp yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Isochromosomy Yp is a rare gonosome anomaly characterized by various clinical presentations including normal healthy fertile males, male phenotype with infertility, and males with ambiguous genitalia or incomplete masculinization.
Definition from the Mondo Disease Ontology (MONDO:0020304), read 2026-09-29. CC BY 4.0.
Features
6 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)
- Male infertilityHPOHP:0003251
- Very frequent (80% to 99% of cases)
- Primary gonadal insufficiencyHPOHP:0008193
- Very frequent (80% to 99% of cases)
- Ambiguous genitaliaHPOHP:0000062
- Frequent (30% to 79% of cases)
- GynecomastiaHPOHP:0000771
- Frequent (30% to 79% of cases)
Where it sits
- A kind of