maternal uniparental disomy of chromosome 6
Findings
No curated finding names maternal uniparental disomy of chromosome 6 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Maternal uniparental disomy of chromosome 6 is an uniparental disomy of maternal origin characterized by intrauterine growth retardation. Homozygosity for a recessive disease mutation for which only a mother is a carrier may lead to other phenotypes.
Definition from the Mondo Disease Ontology (MONDO:0019912), read 2026-09-29. CC BY 4.0.
- Onset and course
- Miscarriage
HPO, annotations 2026-09-02
Features
20 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 electroretinogramHPOHP:0000512
- Frequent (30% to 79% of cases)
- Cleft palateHPOHP:0000175
- Frequent (30% to 79% of cases)
- Cleft upper lipHPOHP:0000204
- Frequent (30% to 79% of cases)
- Eczematoid dermatitisHPOHP:0000964
- Frequent (30% to 79% of cases)
- Hydrocele testisHPOHP:0000034
- Frequent (30% to 79% of cases)
- ImmunodeficiencyHPOHP:0002721
- Frequent (30% to 79% of cases)
- Inguinal herniaHPO
Show the remaining 8
- ThrombocytopeniaHPOHP:0001873
- Frequent (30% to 79% of cases)
- Triangular faceHPOHP:0000325
- Frequent (30% to 79% of cases)
- VentriculomegalyHPOHP:0002119
- Frequent (30% to 79% of cases)
- Accelerated bone age after pubertyHPOHP:0002805
- Occasional (5% to 29% of cases)
- Clitoral hypertrophyHPOHP:0008665
- Occasional (5% to 29% of cases)
- Congenital adrenal hyperplasiaHPOHP:0008258
- Occasional (5% to 29% of cases)
Where it sits
Other names
2 names
Resolves to: maternal uniparental disomy of chromosome 6
- Also called
- maternal uniparental disomy of chromosome type 6UPD(6)mat