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Summary Literature (0)
DOID:0111449 - progressive myoclonus epilepsy 6

Disease Ontology Definition: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.

Synonyms: EPM6, North Sea progressive myoclonus epilepsy, PME type 6, Progressive myoclonus epilepsy type 6, GOSR2-related progressive myoclonus ataxia

Xenbase Genes : gosr2


MIM:
MIM:614018 - EPILEPSY, PROGRESSIVE MYOCLONIC, 6; EPM6

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view
Parent(s): autosomal recessive disease (is_a), progressive myoclonus epilepsy (is_a)