OBO ID: DOID:0110727
Term Name: neuronal ceroid lipofuscinosis 13 Search Ontology:
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)
OTHER neuronal ceroid lipofuscinosis 13 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
CTSF Ceroid lipofuscinosis, neuronal, 13 (Kufs type) 615362
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS (1)