Neuronal Ceroid-Lipofuscinosis (CLN6-Related) (CLN6)
Neuronal ceroid-lipofuscinosis (CLN6-related) is an autosomal recessive neurodegenerative disorder that is caused by pathogenic variants in the gene CLN6. It has been reported in patients from different ethnicities around the world. Most CLN6-caused neuronal ceroid-lipofuscinosis results in the late infantile form, in which symptoms begin between 5 and 7 years of age. Clinical features include progressive visual loss and neurologic symptoms, including seizures, developmental and motor regression and intellectual disability. Affected individuals do not survive beyond their mid-twenties. Rarely, patients may be diagnosed with a later-onset form. It is not currently possible to predict the age of disease onset based on the patients genotype.
|Disease Name||Gene||Guaranteed Exons||Inheritance||Ethnicity||Carrier Frequency||Detection Rate||Residual Risk|
|Neuronal Ceroid-Lipofuscinosis (CLN6-Related)||CLN6||1-7  (*12)||AR||Worldwide||< 1 in 500||80%||0.000400641025641026|