Click here to close Hello! We notice that you are using Internet Explorer, which is not supported by Echinobase and may cause the site to display incorrectly. We suggest using a current version of Chrome, FireFox, or Safari.
Echinobase
Summary Literature (0)
DOID:0110731 - neuronal ceroid lipofuscinosis 3

Disease Ontology Definition:A neuronal ceroid lipofuscinosis that is characterized by juvenile-onset of progressive dementia, seizures, and progressive visual failure and an ultrastructural pattern of lipopigment with a 'fingerprint' profile and has_material_basis_in homozygous or compound heterozygous mutation in the CLN3 gene on chromosome 16p11.

Synonyms: Batten disease, CLN3, juvenile neuronal ceroid lipofuscinosis,

Echinobase Genes : cln3


OMIM:
MIM:204200 - ceroid lipofuscinosis, neuronal, 3; cln3

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), neuronal ceroid lipofuscinosis (is_a)