CLN7 / MFSD8

Mutations generally cause NCL with onset in late infancy, or at later ages.

Recent reports indicate that there may be phenotypic heterogeneity in clinical manifestations of MFSD8 mutations, including adult onset eye disorders. There are also reports of heterozygous mutations causing frontotemporal dementia (FTD), and amyolateral sclerosis (ALS)

mutation table to download

cln07_mutation_table_dec_2023.xlsx

cln07_mutation_table_dec_2023.xlsx

patient table to download 

cln07_patient_table_feb24.xlsx

cln07_patient_table_feb24.xlsx