Angelman syndrome due to maternal 15q11q13 deletion
MONDO:0020302Mondo
Findings
No curated finding names Angelman syndrome due to maternal 15q11q13 deletion yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Features
50 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
- Very frequent (80% to 99% of cases)
- EEG abnormalityHPOHP:0002353
- Very frequent (80% to 99% of cases)
- EEG with abnormally slow frequenciesHPOHP:0011203
- Very frequent (80% to 99% of cases)
- Global developmental delayHPOHP:0001263
- Very frequent (80% to 99% of cases)
- Neurodevelopmental delayHPOHP:0012758
- Very frequent (80% to 99% of cases)
- Secondary microcephalyHPOHP:0005484
- Very frequent (80% to 99% of cases)
- SeizureHPOHP:0001250
- Very frequent (80% to 99% of cases)
- Abnormal eating behaviorHPOHP:0100738
- Frequent (30% to 79% of cases)
- Abnormal speech patternHPOHP:0002167
- Frequent (30% to 79% of cases)
- Autistic behaviorHPOHP:0000729
- Frequent (30% to 79% of cases)
- ConstipationHPOHP:0002019
- Frequent (30% to 79% of cases)
- Delayed myelinationHPOHP:0012448
- Frequent (30% to 79% of cases)
Show the remaining 38
- DroolingHPOHP:0002307
- Frequent (30% to 79% of cases)
- Feeding difficultiesHPOHP:0011968
- Frequent (30% to 79% of cases)
- Flat occiputHPOHP:0005469
- Frequent (30% to 79% of cases)
- Floppy infantHPOHP:0008947
- Frequent (30% to 79% of cases)
- Functional motor deficitHPOHP:0004302
- Frequent (30% to 79% of cases)
- Happy demeanorHPOHP:0040082
- Frequent (30% to 79% of cases)
Where it sits
Other names
1 name
Resolves to: Angelman syndrome due to maternal 15q11q13 deletion
- Also called
- Angelman syndrome due to maternal monosomy 15q11q13