Click here to close Hello! We notice that you are using Internet Explorer, which is not supported by Xenbase and may cause the site to display incorrectly. We suggest using a current version of Chrome, FireFox, or Safari.
Summary Literature (0)
DOID:0110722 - neuronal ceroid lipofuscinosis 7

Disease Ontology Definition:A neuronal ceroid lipofuscinosis that is characterized by late-infantile onset of symptoms (seizures or motor impairment followed by mental regression, myoclonus, speech impairment, loss of vision, and personality disorders) and has_material_basis_in homozygous or compound heterozygous mutation in the MFSD8 gene on chromosome 4q28.

Synonyms: CLN7

Xenbase Genes : mfsd8

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0012588 - neuronal ceroid lipofuscinosis 7

MIM:
MIM:610951 - CEROID LIPOFUSCINOSIS, NEURONAL, 7; CLN7

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)