neuronal ceroid lipofuscinosis 11
A neuronal ceroid lipofuscinosis that is characterized by autosomal recessive inheritance with rapidly progressive visual loss due to retinal dystrophy, seizures, cerebellar ataxia, and cerebellar atrophy and has_material_basis_in homozygous mutation in the GRN gene on chromosome 17q. [ http://purl.obolibrary.org/obo/ECO_0007645 ]
Term info
neuronal ceroid lipofuscinosis 11
- CLN11
disease_ontology
DOID:0110732