Angelman syndrome (maternal deletion)
GPTKB entity
Statements (21)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:associatedWith |
gptkb:Prader-Willi_syndrome
|
| gptkbp:causedBy |
deletion of maternal 15q11-q13 region
|
| gptkbp:chromosomeAffected |
gptkb:chromosome_15
|
| gptkbp:diagnosedBy |
genetic testing
|
| gptkbp:firstDescribed |
gptkb:Harry_Angelman
1965 |
| https://www.w3.org/2000/01/rdf-schema#label |
Angelman syndrome (maternal deletion)
|
| gptkbp:inheritance |
not typically inherited (de novo)
|
| gptkbp:OMIM |
105830
|
| gptkbp:onset |
infancy
|
| gptkbp:prevalence |
1 in 12,000 to 20,000
|
| gptkbp:regulates |
gptkb:UBE3A
|
| gptkbp:symptom |
seizures
ataxia frequent laughter happy demeanor severe intellectual disability speech impairment |
| gptkbp:bfsParent |
gptkb:15q11-q13
|
| gptkbp:bfsLayer |
7
|