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neuronal ceroid lipofuscinosis 6A (DOID:0110729)
Alliance: disease page
Synonyms: CLN6; neuronal ceroid lipofuscinosis 6; neuronal ceroid lipofuscinosis 6 variable age of onset
Alt IDs: OMIM:601780, ICD10CM:E75.4, ORDO:228363
Definition: A neuronal ceroid lipofuscinosis that is characterized by progressive decline of neurologic function, including visual deterioration in most, cognitive impairment, loss of motor function, and seizures and has_material_basis_in homozygous mutation in the CLN6 gene on chromosome 15q21-q23.

Disease References using Mouse Models (3)

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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last database update
11/12/2024
MGI 6.24
The Jackson Laboratory