DO_rare_slim has material basis in autosomal recessive disease progressive myoclonus epilepsy 6 GARD:3872 A progressive myoclonus epilepsy characterized by onset of ataxia in the first years of life, followed by action myoclonus and seizures later in childhood, and loss of independent ambulation in the second decade that has_material_basis_in homozygous or compound heterozygous mutation in the GOSR2 gene on chromosome 17q21.32. MIM:614018 DOID:0111449 EPM6 GOSR2-related progressive myoclonus ataxia North Sea progressive myoclonus epilepsy disease_ontology ORDO:280620 PME type 6 Progressive myoclonus epilepsy type 6 progressive myoclonus epilepsy autosomal recessive inheritance