Angelman syndrome due to paternal uniparental disomy of chromosome 15
MONDO:0020303Mondo
Findings
No curated finding names Angelman syndrome due to paternal uniparental disomy of chromosome 15 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Features
28 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.
- EEG abnormalityHPOHP:0002353
- Frequent (30% to 79% of cases)
- Feeding difficultiesHPOHP:0011968
- Frequent (30% to 79% of cases)
- Global developmental delayHPOHP:0001263
- Frequent (30% to 79% of cases)
- Hypopigmentation of hairHPOHP:0005599
- Frequent (30% to 79% of cases)
- Hypopigmentation of the skinHPOHP:0001010
- Frequent (30% to 79% of cases)
- Intellectual disabilityHPOHP:0001249
- Frequent (30% to 79% of cases)
- Iris hypopigmentationHPOHP:0007730
- Frequent (30% to 79% of cases)
- Lower limb hyperreflexiaHPOHP:0002395
- Frequent (30% to 79% of cases)
- Poor speechHPOHP:0002465
- Frequent (30% to 79% of cases)
- Protruding tongueHPOHP:0010808
- Frequent (30% to 79% of cases)
- SeizureHPOHP:0001250
- Frequent (30% to 79% of cases)
- Tongue thrustingHPOHP:0100703
- Frequent (30% to 79% of cases)
Show the remaining 16
- Wide mouthHPOHP:0000154
- Frequent (30% to 79% of cases)
- Widely spaced teethHPOHP:0000687
- Frequent (30% to 79% of cases)
- Abnormal speech patternHPOHP:0002167
- Occasional (5% to 29% of cases)
- Atypical absence seizureHPOHP:0007270
- Occasional (5% to 29% of cases)
- Bilateral tonic-clonic seizureHPOHP:0002069
- Occasional (5% to 29% of cases)
- Bilateral tonic-clonic seizure with generalized onsetHPOHP:0025190
- Occasional (5% to 29% of cases)
Where it sits
Other names
2 names
Resolves to: Angelman syndrome due to paternal uniparental disomy of chromosome 15
- Also called
- Angelman syndrome due to paternal uniparental disomy of chromosome type 15UPD(15)pat