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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)
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11/12/2024
MGI 6.24 		The Jackson Laboratory