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Summary Literature (0)
DOID:0111446 - progressive myoclonus epilepsy 3

Disease Ontology Definition:A progressive myoclonus epilepsy characterized by onset of intractable myoclonic seizures before age 2 years and developmental regression that has_material_basis_in homozygous or compound heterozygous mutation in the KCTD7 gene on chromosome 7q11.21.

Synonyms: CLN14 disease, EPM3, neuronal ceroid lipofuscinosis 14, PME type 3, Progressive myoclonic epilepsy due to KCTD7 deficiency, Progressive myoclonus epilepsy type 3

Xenbase Genes : kctd7



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), progressive myoclonus epilepsy (is_a)