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,

Echinobase Genes :


OMIM:

MIM:610951 - ceroid lipofuscinosis, neuronal, 7; cln7

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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee