Angelman syndrome due to imprinting defect in 15q11-q13
MONDO:0018462Mondo
Findings
No curated finding names Angelman syndrome due to imprinting defect in 15q11-q13 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
- Abnormal facial shapeHPOHP:0001999
- Frequent (30% to 79% of cases)
- Delayed ability to walkHPOHP:0031936
- Frequent (30% to 79% of cases)
- EEG abnormalityHPOHP:0002353
- Frequent (30% to 79% of cases)
- Feeding difficulties in infancyHPOHP:0008872
- Frequent (30% to 79% of cases)
- Floppy infantHPOHP:0008947
- Frequent (30% to 79% of cases)
- Happy demeanorHPOHP:0040082
- 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)
- Inappropriate laughterHPOHP:0000748
- Frequent (30% to 79% of cases)
- Iris hypopigmentationHPOHP:0007730
- Frequent (30% to 79% of cases)
- ObesityHPOHP:0001513
- Frequent (30% to 79% of cases)
- PolyphagiaHPOHP:0002591
- Frequent (30% to 79% of cases)
Show the remaining 15
- SeizureHPOHP:0001250
- Frequent (30% to 79% of cases)
- Absent speechHPOHP:0001344
- Occasional (5% to 29% of cases)
- AtaxiaHPOHP:0001251
- Occasional (5% to 29% of cases)
- Atypical behaviorHPOHP:0000708
- Occasional (5% to 29% of cases)
- Brain imaging abnormalityHPOHP:0410263
- Occasional (5% to 29% of cases)
- Broad-based gaitHPOHP:0002136
- Occasional (5% to 29% of cases)
Where it sits
- A kind of