progressive myoclonic epilepsy type 6
Any progressive myoclonic epilepsy in which the cause of the disease is a mutation in the GOSR2 gene.
MONDO:0020074
progressive myoclonus epilepsy
is_a
EPM6
exact
GOSR2 progressive myoclonic epilepsy
exact
GOSR2-related progressive myoclonus ataxia
exact
North Sea progressive myoclonus epilepsy
exact
PME type 6
exact
epilepsy, progressive myoclonic 6
exact
epilepsy, progressive myoclonic, 6
related
epilepsy, progressive myoclonic, type 6
exact
progressive myoclonic epilepsy caused by mutation in GOSR2
exact
progressive myoclonus epilepsy type 6
exact
SPAP14E8.03