Statements (63)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:associatedWith |
sleep disturbances
seizures sleep disorders repetitive behaviors lack of verbal communication behavioral issues increased risk of infections social engagement short stature autism spectrum disorder hypotonia dental issues difficulty with eye contact difficulty with transitions attention deficit hyperactivity disorder (ADHD) difficulty with peer relationships difficulty with planning and organization difficulty with problem-solving difficulty with social cues excessive laughter facial asymmetry feeding difficulties hypopigmentation impaired cognitive function impaired fine motor skills impaired social skills increased emotional responses increased laughter during inappropriate times increased need for routine increased need for supervision increased risk of obesity increased sensitivity to stimuli lack of fear motor coordination issues self-injurious behavior epileptic_seizures |
| gptkbp:causedBy |
deletion of UBE3A gene
|
| gptkbp:characterizedBy |
frequent laughter
gait ataxia happy demeanor severe intellectual disability speech impairment |
| gptkbp:demographics |
1 in 15,000 to 1 in 20,000 births
|
| gptkbp:diseaseResistance |
genetic testing
clinical evaluation |
| gptkbp:firstDescribedBy |
1965
|
| gptkbp:geneticDiversity |
not inherited
occurs due to new mutations |
| https://www.w3.org/2000/01/rdf-schema#label |
Angelman syndrome
|
| gptkbp:impact |
physical therapy
occupational therapy anticonvulsants for seizures therapies for speech and communication |
| gptkbp:namedAfter |
gptkb:Harry_Angelman
|
| gptkbp:researchFocus |
therapeutic interventions
UBE3A gene function neurodevelopmental mechanisms |
| gptkbp:symptoms |
developmental delays
scoliosis hyperactivity facial features such as a wide mouth motor difficulties |