Amish, Mennonite, and Hutterite
Genetic Disorder Database

Angelman syndrome

Disorder
OMIM #: #105830  (Click to access OMIM database)
Disorder: Angelman syndrome 
Also known as: HAPPY PUPPET SYNDROME, FORMERLY  
Clinical
Phenotype: mental retardation, movement or balance disorder, typical abnormal behaviors, severe limitations in speech and language 
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
Remarks:  
Mutations
1   Amish  
Gene: UBE3A
Base Change: A>C, at nucleotide 2327
Amino Acid Change:
Last updated: 2019-07-05 

References
Personal communication; seen at CSC.  

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