OBO ID: DOID:0110732
Term Name: neuronal ceroid lipofuscinosis 11 Search Ontology:
Synonyms:
  • CLN11
Definition: A neuronal ceroid lipofuscinosis that is characterized by autosomal recessive inheritance with rapidly progressive visual loss due to retinal dystrophy, seizures, cerebellar ataxia, and cerebellar atrophy and has_material_basis_in homozygous mutation in the GRN gene on chromosome 17q. https://www.ncbi.nlm.nih.gov/pubmed/22608501
References:
Ontology: Human Disease   (DOID:0110732)
OTHER neuronal ceroid lipofuscinosis 11 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
GRN Ceroid lipofuscinosis, neuronal, 11 614706
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS (1)