Ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)
Diseases associated with this gene: EPMR, CLN8
Gene Home Reference: CLN8
Ensembl gene: ENSG00000182372
Ensembl location: ENSG00000182372

OMIM genes: 607837
Curator: Sara Mole
Source database: NCL Mutation and Patient Database
Direct link:
Download all CLN8 variants in ATOM XML format.

Mutations which were in the source database before 11.2012 were also verified by the FinDis curator.

N.B: Phenotypes caused by mutations (EPMR and others) are indicated in Phenotype column.

FinDis has received funding from the Academy of Finland, Center of Excellence in Disease Genetics
and the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement number 200754 - the GEN2PHEN project.