progressive myoclonus epilepsy 4 (DOID:0111444)
Alliance: disease page
Synonyms: action myoclonus-renal failure syndrome; AMRF; EPM4; Myoclonus-nephropathy syndrome
Alt IDs: OMIM:254900, MESH:D020191, ORDO:163696, UMLS_CUI:C0751779
Definition: 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 the SCARB2 gene on chromosome 4q21.1.