neuronal ceroid lipofuscinosis 11 (DOID:0110732)
Alliance: disease page
Synonyms: CLN11
Alt IDs: OMIM:614706, ICD10CM:E75.4, ORDO:314629
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.