neuronal ceroid lipofuscinosis 6B

Summary

DOID:0110730 - neuronal ceroid lipofuscinosis 6B

Disease Ontology 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.

Synonyms: autosomal recessive neuronal ceroid lipofuscinosis 4A, CLN4A, neuronal ceroid lipofuscinosis 4A

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: cln6

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0008768 - ceroid lipofuscinosis, neuronal, 6B (Kufs type)

MONDO:0008768 - ceroid lipofuscinosis, neuronal, 6B (Kufs type)

Other Model Organisms: Alliance, 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)