Term Name: | neuronal ceroid lipofuscinosis 2 |
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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 ) |