Angelman syndrome
MONDO:0007113Mondo
Findings
No curated finding names Angelman syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A neurogenetic disorder characterized by severe intellectual deficit and distinct facial dysmorphic features.
Definition from the Mondo Disease Ontology (MONDO:0007113), read 2026-09-29. CC BY 4.0.
Features
83 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.
- Absent speechHPOHP:0001344
- 27 of 27 reported patients
- Occasional (5% to 29% of cases)
- AtaxiaHPOHP:0001251
- 27 of 27 reported patients
- Very frequent (80% to 99% of cases)
- Delayed ability to walkHPOHP:0031936
- 22 of 22 reported patients
- EEG abnormalityHPOHP:0002353
- 35 of 35 reported patients
- Very frequent (80% to 99% of cases)
- Global developmental delayHPOHP:0001263
- 27 of 27 reported patients
- Happy demeanorHPOHP:0040082
- 27 of 27 reported patients
- Occasional (5% to 29% of cases)
- Motor delayHPOHP:0001270
- 27 of 27 reported patients
- Very frequent (80% to 99% of cases)
- Severe intellectual disabilityHPOHP:0010864
- 27 of 27 reported patients
- Very frequent (80% to 99% of cases)
- SeizureHPOHP:0001250
- 26 of 27 reported patients
- Very frequent (80% to 99% of cases)
- Sleep-wake cycle disturbanceHPOHP:0006979
- 18 of 21 reported patients
- Frequent (30% to 79% of cases)
- Abnormal speech patternHPOHP:0002167
- Very frequent (80% to 99% of cases)
- Atypical behaviorHPOHP:0000708
- Very frequent (80% to 99% of cases)
Show the remaining 71
- Autistic behaviorHPOHP:0000729
- Very frequent (80% to 99% of cases)
- Broad-based gaitHPOHP:0002136
- Very frequent (80% to 99% of cases)
- Cerebral cortical atrophyHPOHP:0002120
- Very frequent (80% to 99% of cases)
- Delayed speech and language developmentHPOHP:0000750
- Very frequent (80% to 99% of cases)
- HyperactivityHPOHP:0000752
- Very frequent (80% to 99% of cases)
- Inappropriate laughterHPOHP:0000748
- Very frequent (80% to 99% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- UBE3AHGNC:12496
- Definitive · ClinGen · Autosomal dominant · 2018
- Definitive · G2P · Autosomal dominant · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
Other names
1 name
Resolves to: Angelman syndrome
- Also called
- Angelman’s syndrome