Term Name: neuronal ceroid lipofuscinosis 2
Synonyms: CLN2, neuronal ceroid lipofuscinosis 2 variable age at onset
Definition: A neuronal ceroid lipofuscinosis that is characterized by 'curvilinear' profile lipopigment pattern and has_material_basis_in homozygous or compound heterozygous mutation in the TPP1 gene on chromosome 11p15.
Ontology: Human Disease [DOID:0110726]   ( DOID:0110726 )

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