maternal uniparental disomy of chromosome 4
MONDO:0019911Mondo
Findings
No curated finding names maternal uniparental disomy of chromosome 4 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Maternal uniparental disomy of chromosome 4 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:0019911), read 2026-09-29. CC BY 4.0.
Features
39 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.
- AbetalipoproteinemiaHPOHP:0008181
- Frequent (30% to 79% of cases)
- Abnormal erythrocyte morphologyHPOHP:0001877
- Frequent (30% to 79% of cases)
- Abnormality of the nervous systemHPOHP:0000707
- Frequent (30% to 79% of cases)
- AcanthocytosisHPOHP:0001927
- Frequent (30% to 79% of cases)
- AtaxiaHPOHP:0001251
- Frequent (30% to 79% of cases)
- Calf muscle pseudohypertrophyHPOHP:0003707
- Frequent (30% to 79% of cases)
- Chaddock reflexHPOHP:0010875
- Frequent (30% to 79% of cases)
- Decreased body weightHPOHP:0004325
- Frequent (30% to 79% of cases)
- Decreased circulating LDL-C concentrationHPOHP:0003563
- Frequent (30% to 79% of cases)
- Decreased circulating vitamin E concentrationHPOHP:0100513
- Frequent (30% to 79% of cases)
- Decreased circulating vitamin K concentrationHPOHP:0011892
- Frequent (30% to 79% of cases)
- Delayed speech and language developmentHPOHP:0000750
- Frequent (30% to 79% of cases)
Show the remaining 27
- DepressionHPOHP:0000716
- Frequent (30% to 79% of cases)
- DiarrheaHPOHP:0002014
- Frequent (30% to 79% of cases)
- DysmetriaHPOHP:0001310
- Frequent (30% to 79% of cases)
- Elevated circulating creatine kinase activityHPOHP:0003236
- Frequent (30% to 79% of cases)
- Fat malabsorptionHPOHP:0002630
- Frequent (30% to 79% of cases)
- HypocholesterolemiaHPOHP:0003146
- Frequent (30% to 79% of cases)
Where it sits
Other names
2 names
Resolves to: maternal uniparental disomy of chromosome 4
- Also called
- maternal uniparental disomy of chromosome type 4UPD(4)mat