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progressive myoclonus epilepsy 6 (DOID:0111449)
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Synonyms: EPM6; GOSR2-related progressive myoclonus ataxia; North Sea progressive myoclonus epilepsy; PME type 6; Progressive myoclonus epilepsy type 6
Alt IDs: OMIM:614018, ORDO:280620
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 GOSR2 on chromosome 17q21.32.


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
02/04/2020
MGI 6.14
The Jackson Laboratory