Term Name: | progressive myoclonus epilepsy 4 |
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Synonyms: | action myoclonus-renal failure syndrome, AMRF, EPM4, Myoclonus-nephropathy syndrome |
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. |
Ontology: | Human Disease [DOID:0111444] ( DOID:0111444 ) |