Term Name: neuronal ceroid lipofuscinosis 11
Synonyms: CLN11
Definition: 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.
Ontology: Human Disease [DOID:0110732]   ( DOID:0110732 )

Relationships
is a type of: autosomal recessive disease neuronal ceroid lipofuscinosis