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Disease Ontology Browser
familial adult myoclonic epilepsy 3 (DOID:0111695)
Alliance: disease page
Synonyms: FAME3; familial cortical myoclonic tremor and epilepsy 3; FCMTE3
Alt IDs: OMIM:613608
Definition: A familial adult myoclonic epilepsy characterized by onset between 10 and 40 years of age of cortical tremor, mainly affecting the hands and voice that has_material_basis_in a heterozygous 5-bp repeat expansion in the MARCHF6 gene on chromosome 5p15.2.


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
11/12/2024
MGI 6.24
The Jackson Laboratory