Term Name:	neuronal ceroid lipofuscinosis 1
Synonyms:	CLN1, neuronal ceroid lipofuscinosis 1 variable age of onset
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.
Ontology:	Human Disease [DOID:0110721]   ( DOID:0110721 )