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Summary Literature (0)
DOID:0110729 - neuronal ceroid lipofuscinosis 6A


Disease Ontology 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.

Synonyms: CLN6, neuronal ceroid lipofuscinosis 6, neuronal ceroid lipofuscinosis 6 variable age of onset

Xenbase Genes : cln6

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0011144 - ceroid lipofuscinosis, neuronal, 6A

OMIM:
OMIM:601780 - CEROID LIPOFUSCINOSIS, NEURONAL, 6A; CLN6A

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal recessive disease (is_a), genetic disease (is_a), neuronal ceroid lipofuscinosis (is_a)