familial adult myoclonic epilepsy 3
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 MARCHF6 on chromosome 5p15.2. [ http://purl.obolibrary.org/obo/ECO_0007645 ]
Term info
familial adult myoclonic epilepsy 3
- FAME3
- FCMTE3
- familial cortical myoclonic tremor and epilepsy 3
disease_ontology
DOID:0111695