Statements (33)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
syndrome |
| gptkbp:alsoKnownAs |
gptkb:Angelman_syndrome
|
| gptkbp:causedBy |
deletion or mutation of maternal UBE3A gene
|
| gptkbp:characterizedBy |
ataxia
happy demeanor severe intellectual disability speech impairment frequent laughter or smiling |
| gptkbp:chromosomeAffected |
gptkb:chromosome_15
|
| gptkbp:diagnosedBy |
genetic testing
|
| gptkbp:firstDescribed |
gptkb:Harry_Angelman
1965 |
| https://www.w3.org/2000/01/rdf-schema#label |
Happy puppet syndrome
|
| gptkbp:ICD-10_code |
Q93.5
|
| gptkbp:inheritance |
autosomal dominant
de novo mutation |
| gptkbp:MeSH_ID |
D000782
|
| gptkbp:namedAfter |
gptkb:Harry_Angelman
|
| gptkbp:OMIM |
105830
|
| gptkbp:prevalence |
1 in 12,000 to 20,000 live births
|
| gptkbp:symptom |
seizures
developmental delay microcephaly sleep disturbance hyperactivity movement or balance disorder |
| gptkbp:treatment |
physical therapy
speech therapy anti-seizure medication supportive therapy |
| gptkbp:bfsParent |
gptkb:Angelman_syndrome
|
| gptkbp:bfsLayer |
7
|