neuronal ceroid lipofuscinosis 11
Information
- Disease name
- neuronal ceroid lipofuscinosis 11
- Disease ID
- DOID:0110732
- Description
- "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." [url:https\://www.ncbi.nlm.nih.gov/pubmed/22608501]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
- Disase is a (Disease Ontology)
- DOID:14503
- Cross Reference ID (Disease Ontology)
- ICD10CM:E75.4
- Cross Reference ID (Disease Ontology)
- MIM:614706
- Cross Reference ID (Disease Ontology)
- ORDO:314629
- Exact Synonym (Disease Ontology)
- CLN11