Global Variome shared LOVD

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

Phenotype #0000208055 Individual ID 00271447 Associated disease FAME Diagnosis/Initial familial adult myoclonic epilepsy Diagnosis/Definite FAME2 Phenotype details mean age onset 20y; myoclonus/cortical tremor 2/2, tonic-clonic seizures 1/2, focal seizures 0/2; migraine 1/2 Inheritance Familial, autosomal dominant Age/Examination - 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 13:57:03 +01:00 (CET) Date last edited 2019-12-19 15:56:31 +01:00 (CET)

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