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 ...