paternal uniparental disomy of chromosome X
MONDO:0016852Mondo
Findings
No curated finding names paternal uniparental disomy of chromosome X yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Features
18 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.
- Abnormality of chromosome segregationHPOHP:0002916
- Very frequent (80% to 99% of cases)
- Cubitus valgusHPOHP:0002967
- Very frequent (80% to 99% of cases)
- Decreased testicular sizeHPOHP:0008734
- Very frequent (80% to 99% of cases)
- Hypoplastic areolaHPOHP:0100853
- Very frequent (80% to 99% of cases)
- HypotoniaHPOHP:0001252
- Very frequent (80% to 99% of cases)
- InfertilityHPOHP:0000789
- Very frequent (80% to 99% of cases)
- Low posterior hairlineHPOHP:0002162
- Very frequent (80% to 99% of cases)
- MicropenisHPOHP:0000054
- Very frequent (80% to 99% of cases)
- Mild intellectual disabilityHPOHP:0001256
- Very frequent (80% to 99% of cases)
- Moderate global developmental delayHPOHP:0011343
- Very frequent (80% to 99% of cases)
- Posteriorly rotated earsHPOHP:0000358
- Very frequent (80% to 99% of cases)
- Shield chestHPOHP:0000914
- Very frequent (80% to 99% of cases)
Show the remaining 6
- Short metacarpalHPOHP:0010049
- Very frequent (80% to 99% of cases)
- Short neckHPOHP:0000470
- Very frequent (80% to 99% of cases)
- Short statureHPOHP:0004322
- Very frequent (80% to 99% of cases)
- Wide intermamillary distanceHPOHP:0006610
- Very frequent (80% to 99% of cases)
- Global developmental delayHPOHP:0001263
- Frequent (30% to 79% of cases)
- Intellectual disabilityHPOHP:0001249
- Frequent (30% to 79% of cases)
Where it sits
Other names
2 names
Resolves to: paternal uniparental disomy of chromosome X
- Also called
- paternal uniparental disomy of chromosome type XUPD(X)pat