Search Ontology:
Human Disease

neuronal ceroid lipofuscinosis 13

Term ID
DOID:0110727
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. https://www.ncbi.nlm.nih.gov/pubmed/23297359
References
Ontology
Human Disease   ( DOID:0110727 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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