paternal uniparental disomy of chromosome 14
MONDO:0011975Mondo
Findings
No curated finding names paternal uniparental disomy of chromosome 14 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Onset and course
- Miscarriage
HPO, annotations 2026-09-02
Features
119 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.
- Coat hanger sign of ribsHPOHP:0006665
- Obligate (100% of cases)
- Abnormal facial shapeHPOHP:0001999
- Very frequent (80% to 99% of cases)
- Feeding difficultiesHPOHP:0011968
- Very frequent (80% to 99% of cases)
- Global developmental delayHPOHP:0001263
- Very frequent (80% to 99% of cases)
- Large placentaHPOHP:0006267
- Very frequent (80% to 99% of cases)
- PolyhydramniosHPOHP:0001561
- Very frequent (80% to 99% of cases)
- Abnormality of the skeletal systemHPOHP:0000924
- Frequent (30% to 79% of cases)
- Chin with horizontal creaseHPOHP:0011823
- Frequent (30% to 79% of cases)
- Deep philtrumHPOHP:0002002
- Frequent (30% to 79% of cases)
- Depressed nasal bridgeHPOHP:0005280
- Frequent (30% to 79% of cases)
- Diastasis rectiHPOHP:0001540
- Frequent (30% to 79% of cases)
- Flexion contractureHPOHP:0001371
- Frequent (30% to 79% of cases)
Show the remaining 107
- Frontal hirsutismHPOHP:0011335
- Frequent (30% to 79% of cases)
- Growth delayHPOHP:0001510
- Frequent (30% to 79% of cases)
- Hypoplastic iliac wingHPOHP:0002866
- Frequent (30% to 79% of cases)
- KyphoscoliosisHPOHP:0002751
- Frequent (30% to 79% of cases)
- Limb undergrowthHPOHP:0009826
- Frequent (30% to 79% of cases)
- MacroglossiaHPOHP:0000158
- Frequent (30% to 79% of cases)
Where it sits
Other names
2 names
Resolves to: paternal uniparental disomy of chromosome 14
- Also called
- paternal uniparental disomy of chromosome type 14UPD(14)pat