Term Name: familial adult myoclonic epilepsy 3
Synonyms: FAME3, familial cortical myoclonic tremor and epilepsy 3, FCMTE3
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.
Ontology: Human Disease [DOID:0111695]   ( DOID:0111695 )

Relationships
is a type of: autosomal dominant disease familial adult myoclonic epilepsy