paternal uniparental disomy of chromosome 5
MONDO:0019920Mondo
Findings
No curated finding names paternal uniparental disomy of chromosome 5 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Paternal uniparental disomy of chromosome 5 is an uniparental disomy of paternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier.
Definition from the Mondo Disease Ontology (MONDO:0019920), read 2026-09-29. CC BY 4.0.
Features
13 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.
- Abnormal fibular epiphysis morphologyHPOHP:0010593
- Very frequent (80% to 99% of cases)
- Abnormally large globeHPOHP:0001090
- Very frequent (80% to 99% of cases)
- Generalized hypotoniaHPOHP:0001290
- Very frequent (80% to 99% of cases)
- Global developmental delayHPOHP:0001263
- Very frequent (80% to 99% of cases)
- KyphoscoliosisHPOHP:0002751
- Very frequent (80% to 99% of cases)
- Multiple epiphyseal dysplasiaHPOHP:0002654
- Very frequent (80% to 99% of cases)
- PolyhydramniosHPOHP:0001561
- Very frequent (80% to 99% of cases)
- Posterior plagiocephalyHPOHP:0011327
- Very frequent (80% to 99% of cases)
- Renal duplicationHPOHP:0000075
- Very frequent (80% to 99% of cases)
- Rhizomelic arm shorteningHPOHP:0004991
- Very frequent (80% to 99% of cases)
- SchizophreniaHPOHP:0100753
- Very frequent (80% to 99% of cases)
- Secundum atrial septal defectHPOHP:0001684
- Very frequent (80% to 99% of cases)
Show the remaining 1
- Short lower limbsHPOHP:0006385
- Very frequent (80% to 99% of cases)
Where it sits
Other names
2 names
Resolves to: paternal uniparental disomy of chromosome 5
- Also called
- paternal uniparental disomy of chromosome type 5UPD(5)pat