About   Help   FAQ
Disease Ontology Browser
neuronal ceroid lipofuscinosis 6B (DOID:0110730)
Alliance: disease page
Synonyms: autosomal recessive neuronal ceroid lipofuscinosis 4A; CLN4A; neuronal ceroid lipofuscinosis 4A
Alt IDs: OMIM:204300, ICD10CM:E75.4, ORDO:228340
Definition: A neuronal ceroid lipofuscinosis that is characterized by adult-onset of progressive myoclonus epilepsy, ataxia, loss of motor function, dysarthria, progressive dementia, and progressive cerebral and cerebellar atrophy on brain imaging and has_material_basis_in homozygous or compound heterozygous mutation in the CLN6 gene on chromosome 15q23.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support. 		last database update
12/10/2024
MGI 6.24 		The Jackson Laboratory