Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000208065 Individual ID 00271476 Associated disease FAME Diagnosis/Initial familial cortical myoclonic tremor with epilepsy Diagnosis/Definite FAME1 Phenotype details 30y-onset myoclonic tremor; 34y-onset seizures; focal seizures (visual), generalized seizures preceded by myoclonus, 5 seizures/year; EEG occipital and temporal spikes, frequent burst of generalized spike and wave complexes or generalized polyspike and wave complexes Inheritance Familial, autosomal dominant Age/Examination 50y (50 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2019-12-19 19:40:57 +01:00 (CET) Date last edited N/A

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.