|OBO ID: DOID:0110731|
|Term Name:||neuronal ceroid lipofuscinosis 3||Search Ontology:|
|Definition:||A neuronal ceroid lipofuscinosis that is characterized by juvenile-onset of progressive dementia, seizures, and progressive visual failure and an ultrastructural pattern of lipopigment with a 'fingerprint' profile and has_material_basis_in homozygous or compound heterozygous mutation in the CLN3 gene on chromosome 16p11. (3)|
|Ontology:||Human Disease (DOID:0110731)|
|is a type of:||
OTHER neuronal ceroid lipofuscinosis 3 PAGES
PHENOTYPE No data available
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