Angelman syndrome due to a point mutation
MONDO:0018461Mondo
Findings
No curated finding names Angelman syndrome due to a point mutation yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Features
34 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.
- Cessation of head growthHPOHP:0004485
- Frequent (30% to 79% of cases)
- EEG abnormalityHPOHP:0002353
- 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)
- Iris hypopigmentationHPOHP:0007730
- Frequent (30% to 79% of cases)
- Lower limb hyperreflexiaHPOHP:0002395
- Frequent (30% to 79% of cases)
- Mild intellectual disabilityHPOHP:0001256
- Frequent (30% to 79% of cases)
- Mild microcephalyHPOHP:0040196
- Frequent (30% to 79% of cases)
- ObesityHPOHP:0001513
- Frequent (30% to 79% of cases)
- Secondary microcephalyHPOHP:0005484
- Frequent (30% to 79% of cases)
Show the remaining 22
- SeizureHPOHP:0001250
- Frequent (30% to 79% of cases)
- Wide mouthHPOHP:0000154
- Frequent (30% to 79% of cases)
- Widely spaced teethHPOHP:0000687
- Frequent (30% to 79% of cases)
- Abnormal eating behaviorHPOHP:0100738
- Occasional (5% to 29% of cases)
- Abnormal speech patternHPOHP:0002167
- Occasional (5% to 29% of cases)
- Abnormality of movementHPOHP:0100022
- Occasional (5% to 29% of cases)
Where it sits
- A kind of