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Task A-008 · Type A — Disease → phenotype

What are the core clinical features of Angelman syndrome?

Difficulty
easy
Rarity stratum
medium
Evidence type
review + case_report consensus
MONDO ID
MONDO:0007113
Curator notes

None material.

Generation outcome

Abstained
No
Abstention correct
Yes
Gold in retrieved
1.00
Generation cost
$0.000524
Claims
10
Supported
6
Contradicted
0
Unverifiable
4

Gold documents (2)

  • Genotype-Phenotype Correlations in Angelman Syndrome.
    pubmed:34203304not retrievedsource
  • Angelman syndrome.
    pubmed:23377257retrieved ✓source

Retrieved documents (6)

  • Precision Medicine in Angelman Syndrome.
    pubmed:39168152
  • Angelman syndrome in adolescence and adulthood: A retrospective chart review of 53 cases.
    pubmed:29696750
  • Current and emerging treatment options for Angelman syndrome.
    pubmed:37599585
  • Angelman syndrome: a journey through the brain.
    pubmed:32087041
  • Sudden death and Angelman syndrome.
    pubmed:21854386
  • Angelman syndrome.
    pubmed:23377257gold

Generated claims (10)

supportedconfidence 0.90

Angelman syndrome is characterized by severe neurodevelopmental delay.

pubmed:39168152pubmed:23377257pubmed:47599585
supportedconfidence 0.90

Angelman syndrome involves intellectual disability and limited expressive language.

pubmed:47599585pubmed:23377257
supportedconfidence 0.90

Seizures are a core clinical feature of Angelman syndrome.

pubmed:39168152pubmed:23377257pubmed:47599585
supportedconfidence 0.90

Motor impairment and ataxia are commonly observed in Angelman syndrome.

pubmed:39168152pubmed:23377257pubmed:47599585
supportedconfidence 0.90

Sleep disturbances are a hallmark of Angelman syndrome.

pubmed:39168152pubmed:23377257pubmed:47599585
unverifiableconfidence 0.80

Behavioral disorders such as hyperactivity, aggression, and self-injury are reported in Angelman syndrome.

pubmed:47599585
supportedconfidence 0.90

Facial dysmorphism is a characteristic feature of Angelman syndrome.

pubmed:23377257
unverifiableconfidence 0.80

Anxiety is prevalent in individuals with Angelman syndrome.

pubmed:47599585
unverifiableconfidence 0.80

Gastrointestinal issues such as constipation and gastroesophageal reflux are common.

pubmed:47599585
unverifiableconfidence 0.80

Orthopedic problems like scoliosis and bone density issues are reported in Angelman syndrome.

pubmed:47599585