maternal uniparental disomy of chromosome 2
Findings
No curated finding names maternal uniparental disomy of chromosome 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Maternal uniparental disomy of chromosome 2 is an uniparental disomy of maternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier.
Definition from the Mondo Disease Ontology (MONDO:0019910), read 2026-09-29. CC BY 4.0.
- Onset and course
- Miscarriage
HPO, annotations 2026-09-02
Features
27 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 the amniotic fluidHPOHP:0001560
- Very frequent (80% to 99% of cases)
- Intrauterine growth retardationHPOHP:0001511
- Very frequent (80% to 99% of cases)
- Postnatal growth retardationHPOHP:0008897
- Very frequent (80% to 99% of cases)
- Abnormality of the ankleHPOHP:0003028
- Frequent (30% to 79% of cases)
- Contractures of the large jointsHPOHP:0005781
- Frequent (30% to 79% of cases)
- Elevated amniotic fluid alpha-fetoprotein concentrationHPOHP:0004639
- Frequent (30% to 79% of cases)
Show the remaining 15
- Clinodactyly of the 5th fingerHPOHP:0004209
- Occasional (5% to 29% of cases)
- Decreased response to growth hormone stimulation testHPOHP:0000824
- Occasional (5% to 29% of cases)
- HypospadiasHPOHP:0000047
- Occasional (5% to 29% of cases)
- ImmunodeficiencyHPOHP:0002721
- Occasional (5% to 29% of cases)
- Pes planusHPOHP:0001763
- Occasional (5% to 29% of cases)
- Preaxial hand polydactylyHPOHP:0001177
- Occasional (5% to 29% of cases)
Where it sits
Other names
2 names
Resolves to: maternal uniparental disomy of chromosome 2
- Also called
- maternal uniparental disomy of chromosome type 2UPD(2)mat