Term Name: progressive myoclonus epilepsy 4
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 )

Relationships
is a type of: autosomal recessive disease progressive myoclonus epilepsy