Disease modifying treatment available:
Time critical diagnosis and management:
Lateralising:
None
Angelman syndrome is a genetic disorder characterised by loss of function variants affecting UBE3A which causes a ubiquitin ligase deficiency.
| Gene | ||
|---|---|---|
| UBE3A | Search ClinVar | Search ClinGen |
None
Angelman syndrome may cause the following:
None
| Laboratory Investigation | Result |
|---|
None
None