Amish, Mennonite, and Hutterite
Genetic Disorder Database

Neuronal ceroid lipofuscinosis 6

Disorder
OMIM #: #601780  (Click to access OMIM database)
Disorder: Neuronal ceroid lipofuscinosis 6 
Also known as: CEROID LIPOFUSCINOSIS, NEURONAL, 6, VARIABLE AGE AT ONSET NEURONAL CEROID LIPOFUSCINOSIS, LATE INFANTILE, VARIANT
vLINCL CEROID LIPOFUSCINOSIS, NEURONAL, 6 (Kufs type) CEROID LIPOFUSCINOSIS, NEURONAL, 4A, AUTOSOMAL RECESSIVE, FORMERLY
CLN4A, FORMERLY 
Clinical
Phenotype: progressive dementia, seizures, progressive visual failure 
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
Remarks:  
Mutations
1   Amish  
Gene: CLN6
Base Change: c.358_366delTTCATCATG
Amino Acid Change:
Last updated: 2019-07-03 

References
Personal communication; seen at CSC.  

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