progressive myoclonus epilepsy 6

Summary

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

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: gosr2

MIM:

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

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, Ontobee

Parent(s): autosomal recessive disease (is_a), progressive myoclonus epilepsy (is_a)