neuronal ceroid lipofuscinosis 1 (DOID:0110721)
Alliance: disease page
Synonyms: CLN1; neuronal ceroid lipofuscinosis 1 variable age of onset
Alt IDs: OMIM:256730, ICD10CM:E75.4, ORDO:228329
Definition: A neuronal ceroid lipofuscinosis that is characterized by variable age of onset of symptoms (progressive dementia, seizures, and progressive visual failure) and lipopigment pattern of granular osmiophilic deposits, and has_material_basis_in homozygous or compound heterozygous mutation in the PPT1 gene on chromosome 1p34.