Term Name: neuronal ceroid lipofuscinosis 5
Synonyms: CLN5, neuronal ceroid lipofuscinosis 5 variable age of onset
Definition: A neuronal ceroid lipofuscinosis that is characterized by lipopigment patterns with mixed combinations of 'granular,' 'curvilinear,' and 'fingerprint' profiles, progressive dementia, seizures, and progressive visual failure and has_material_basis_in homozygous or compound heterozygous mutation in the CLN5 gene on chromosome 13q22.
Ontology: Human Disease [DOID:0110728]   ( DOID:0110728 )

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