Amish, Mennonite, and Hutterite
Genetic Disorder Database

Pelizaeus-Merzbacher-like syndrome

Disorder
OMIM #: #608804  (Click to access OMIM database)
Disorder: Pelizaeus-Merzbacher-like syndrome 
Also known as: LEUKODYSTROPHY, HYPOMYELINATING, 2, HLD2 
Clinical
Phenotype: nystagmus, ataxia, hypertonicity, choreoathetosis, developmental delay/mental retardation 
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
Remarks:  
Mutations
1   Amish  
Gene: GJA12
Base Change: A>G, at nucleotide 203
Amino Acid Change: tyr 68 --> cys
Last updated: 2010-07-21 

References
Strauss KA, Puffenberger EG. (2009) Genetics, medicine, and the Plain people. Annu Rev Genomics Hum Genet 10:513-36.
PubMed ID: 19630565 

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