electroclinical syndrome autosomal recessive disease Lafora disease UMLS_CUI:C0751783 ICD10CM:G40.C disease_ontology MESH:D020192 SNOMEDCT_US_2025_09_01:230425004 A progressive myoclonus epilepsy characterized by myoclonus and/or generalized seizures, visual hallucinations, and progressive neurological decline with onset between 8 and 18 years of age that has_material_basis_in homozygous or compound heterozygous mutation in either NHLRC1 on chromosome 6p22.3 or EPM2A on chromosome 6q24.3. NCI:C84804 MIM:PS254780 DOID:3534 GARD:8214 Lafora Progressive Myoclonic Epilepsy Lafora's disease MYOCLONIC EPILEPSY OF LAFORA OMIM mapping confirmed by DO. [SN]. progressive myoclonic epilepsy 2