OBO ID: DOID:0110732 |
Term Name: | neuronal ceroid lipofuscinosis 11 | Search Ontology: | |
---|---|---|---|
Synonyms: |
|
||
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
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS (1)
Your Input Welcome
Thank you for submitting comments. Your input has been emailed to ZFIN curators who may contact you if
additional information is required.
Oops. Something went wrong. Please try again later.