Amish, Mennonite, and Hutterite
Genetic Disorder Database

Poretti-Boltshauser syndrome

Disorder
OMIM #: #615960  (Click to access OMIM database)
Disorder: Poretti-Boltshauser syndrome 
Also known as:  
Clinical
Phenotype: cerebellar dysplasia, cerebellar vermis hypoplasia, cerebellar cysts, high myopia, variable retinal dystrophy, eye movement abnormalities, delayed motor development, speech delay 
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
Remarks:  
Mutations
1   Amish  
Gene: LAMA1
Base Change: c.8556+1G>A
Amino Acid Change:
Last updated: 2019-07-04 

References
Personal communication; seen at CSC.  

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