Amish, Mennonite, and Hutterite
Genetic Disorder Database

Prader-Willi syndrome

Disorder
OMIM #: #176270  (Click to access OMIM database)
Disorder: Prader-Willi syndrome 
Also known as: PRADER-LABHART-WILLI SYNDROME  
Clinical
Phenotype: diminished fetal activity, obesity, muscular hypotonia, mental retardation, short stature, hypogonadotropic hypogonadism, small hands and feet 
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
Remarks:  
Mutations
1   Amish, Old Order Mennonite  
Gene: SNRPN
Base Change: hypermethylation
Amino Acid Change:
Last updated: 2019-07-05 

References
Personal communication; seen at CSC.  

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