Progressive myoclonic epilepsy type 3

MONDO:0012721

Any progressive myoclonic epilepsy in which the cause of the disease is a mutation in the KCTD7 gene.

Also known as: CLN14 disease, EPM3, KCTD7 progressive myoclonic epilepsy, PME type 3, epilepsy, progressive myoclonic 3, with or without intracellular inclusions, neuronal ceroid lipofuscinosis type 14, progressive myoclonic epilepsy caused by mutation in KCTD7, progressive myoclonic epilepsy due to KCTD7 deficiency

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