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Summary Literature (0)
DOID:0110723 - neuronal ceroid lipofuscinosis 8

Disease Ontology Definition:A neuronal ceroid lipofuscinosis that is characterized by a late infantile onset of symptoms (seizures or motor impairment followed by mental regression, myoclonus, speech impairment, loss of vision, and personality disorders) and a mixed combination of 'granular,' 'curvilinear,' and 'fingerprint' profile lipopigment patterns and has_material_basis_in homozygous or compound heterozygous mutation in the CLN8 gene on chromosome 8p23.

Synonyms: CLN8

Xenbase Genes : cln8

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0010830 - neuronal ceroid lipofuscinosis 8

MIM:
MIM:600143 - CEROID LIPOFUSCINOSIS, NEURONAL, 8; CLN8

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)