silver-Russell syndrome due to maternal uniparental disomy of chromosome 11
MONDO:0016482Mondo
Findings
No curated finding names silver-Russell syndrome due to maternal uniparental disomy of chromosome 11 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
- Clinodactyly of the 5th fingerHPOHP:0004209
- Frequent (30% to 79% of cases)
- Frontal bossingHPOHP:0002007
- Frequent (30% to 79% of cases)
- Small for gestational ageHPOHP:0001518
- Frequent (30% to 79% of cases)
- Triangular faceHPOHP:0000325
- Frequent (30% to 79% of cases)
- Abnormal heart morphologyHPOHP:0001627
- Occasional (5% to 29% of cases)
- Abnormality of the skeletal systemHPOHP:0000924
- Occasional (5% to 29% of cases)
- Asymmetric growthHPOHP:0100555
- Occasional (5% to 29% of cases)
- Cleft palateHPOHP:0000175
- Occasional (5% to 29% of cases)
- Delayed gross motor developmentHPOHP:0002194
- Occasional (5% to 29% of cases)
- External genital hypoplasiaHPOHP:0003241
- Occasional (5% to 29% of cases)
- Facial asymmetryHPOHP:0000324
- Occasional (5% to 29% of cases)
- Feeding difficulties in infancyHPOHP:0008872
- Occasional (5% to 29% of cases)
Show the remaining 8
- Gastrojejunal tube feeding in infancyHPOHP:0030884
- Occasional (5% to 29% of cases)
- Global developmental delayHPOHP:0001263
- Occasional (5% to 29% of cases)
- HyperhidrosisHPOHP:0000975
- Occasional (5% to 29% of cases)
- HypoglycemiaHPOHP:0001943
- Occasional (5% to 29% of cases)
- Intrauterine growth retardationHPOHP:0001511
- Occasional (5% to 29% of cases)
- Lower limb asymmetryHPOHP:0100559
- Occasional (5% to 29% of cases)
Where it sits
Other names
2 names
Resolves to: silver-Russell syndrome due to maternal uniparental disomy of chromosome 11
- Also called
- Silver-Russell syndrome due to maternal uniparental disomy of chromosome type 11UPD(11)mat