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The information on this page is for informational purposes only and does not constitute medical advice. Consult your genetic counselor or specialist physician for treatment decisions.
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Angelman Syndrome
Angelman Syndrome
Prevalence:
1/15000
neurological
Official
·
OMIM:105830
Official
·
ORPHA72
Neurodevelopmental disorder caused by loss or mutation of maternal UBE3A allele.
Associated Genes
UBE3A
Ubiquitin Protein Ligase E3A
Chromosome 15
maternal_imprinting