neuronal ceroid lipofuscinosis 13 (DOID:0110727)
Alliance: disease page
Synonyms: CLN13; neuronal ceroid lipofuscinosis 13 Kufs type
Alt IDs: OMIM:615362, ICD10CM:E75.4, ORDO:352709
Definition: A neuronal ceroid lipofuscinosis that is characterized by autosomal recessive inheritance with adult onset of progressive cognitive decline and motor dysfunction leading to dementia and often early death and has_material_basis_in homozygous or compound heterozygous mutation in the CTSF gene on chromosome 11q13.