Term Name: | neuronal ceroid lipofuscinosis 13 |
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Synonyms: | CLN13, neuronal ceroid lipofuscinosis 13 Kufs type |
Definition: | A neuronal ceroid lipofuscinosis that is characterized by autosomal recessive inheritance with adult onset of progressive cognitive decline and motor dysfunction leading to dementia and often early death and has_material_basis_in homozygous or compound heterozygous mutation in the CTSF gene on chromosome 11q13. |
Ontology: | Human Disease [DOID:0110727] ( DOID:0110727 ) |