Amish, Mennonite, and Hutterite
Genetic Disorder Database

Hypomyelinating leukodystrophy 2

Disorder
OMIM #: #608804  (Click to access OMIM database)
Disorder: Hypomyelinating leukodystrophy 2 
Also known as: PELIZAEUS-MERZBACHER-LIKE DISEASE, 1
PMLD1 
Clinical
Phenotype:  
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
Remarks:  
Mutations
1   Amish  
Gene: GJC12
Base Change: A>G, at nucleotide 203
Amino Acid Change:
Last updated: 2019-07-03 

References
Personal communication; seen at CSC.  

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