progressive myoclonic epilepsy type 8
Any progressive myoclonic epilepsy in which the cause of the disease is a mutation in the CERS1 gene.
MONDO:0018117
disorder of phospholipids, sphingolipids and fatty acids biosynthesis
is_a
MONDO:0020074
progressive myoclonus epilepsy
is_a
CERS1 progressive myoclonic epilepsy
exact
EPM8
exact
PME type 8
exact
epilepsy, progressive myoclonic, 8
related
epilepsy, progressive myoclonic, type 8
exact
progressive myoclonic epilepsy caused by mutation in CERS1
exact
progressive myoclonic epilepsy due to CERS1 deficiency
exact
progressive myoclonus epilepsy type 8
exact