Batten disease
From SNPedia
Batten disease is a severe inherited neurodegenerative disorder that begins in childhood. Wikipedia It is passed on in an autosomal recessive pattern. Clinical trials have begun on a gene therapy method to treat this disease.
At least twenty genes have been identified in association with Batten disease, but juvenile NCL, the most prevalent form of Batten disease, has been linked to mutations in the CLN3 gene. The most common CLN3 mutation is a 1kb deletion, which is generally not reportable from microarray tests like those offered by Ancestry or 23andMe.
