DISEASES

Disease-gene associations mined from literature

Human genes for progressive myoclonus epilepsy 4

Progressive myoclonus epilepsy 4 [DOID:0111444]

A progressive myoclonus epilepsy characterized by progressive myoclonic epilepsy often associated with renal failure that has_material_basis_in homozygous or compound heterozygous of mutation in SCARB2 on chromosome 4q21.1.

Synonyms:  progressive myoclonus epilepsy 4,  DOID:0111444,  AMRF,  EPM4,  Myoclonus-nephropathy syndrome ...