Amish, Mennonite, and Hutterite
Genetic Disorder Database

Psychomotor delay and intractable seizures

Disorder
OMIM #: *611176  (Click to access OMIM database)
Disorder: Psychomotor delay and intractable seizures 
Also known as:  
Clinical
Phenotype: intractable seizures, psychomotor delay 
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
Remarks:  
Mutations
1   Old Order Mennonite  
Gene: JKAMP
Base Change: ins.G, at nucleotide 243
Amino Acid Change:
Last updated: 2019-07-04 

References
Personal communication; seen at CSC.  

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