Amish, Mennonite, and Hutterite
Genetic Disorder Database

Primary microcephaly 6

Disorder
OMIM #: #608393  (Click to access OMIM database)
Disorder: Primary microcephaly 6 
Also known as: MCPH6 
Clinical
Phenotype: microcephaly, mental retardation 
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
Remarks:  
Mutations
1   Amish  
Gene: CENPJ
Base Change: C>T, at nucleotide 40
Amino Acid Change:
2   Amish  
Gene: CENPJ
Base Change: A>T, at nucleotide 3982
Amino Acid Change:
Last updated: 2019-07-03 

References
Personal communication; seen at CSC.  

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