Term Name:	progressive myoclonus epilepsy 3
Synonyms:	CLN14 disease, EPM3, neuronal ceroid lipofuscinosis 14, PME type 3, Progressive myoclonic epilepsy due to KCTD7 deficiency, Progressive myoclonus epilepsy type 3
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.
Ontology:	Human Disease [DOID:0111446]   ( DOID:0111446 )