DISEASES

Disease-gene associations mined from literature

Human genes for progressive myoclonus epilepsy 3

Progressive myoclonus epilepsy 3 [DOID:0111446]

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 KCTD7 on chromosome 7q11.21.

Synonyms:  progressive myoclonus epilepsy 3,  DOID:0111446,  CLN14 disease,  EPM3,  PME type 3 ...