progressive myoclonus epilepsy 3 (DOID:0111446)
Alliance: disease page
Synonyms: CLN14 disease; EPM3; neuronal ceroid lipofuscinosis 14; PME type 3; Progressive myoclonic epilepsy due to KCTD7 deficiency; Progressive myoclonus epilepsy type 3
Alt IDs: OMIM:611726, MESH:C567095, ORDO:263516, UMLS_CUI:C2673257
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.