Global Variome shared LOVD

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

Phenotype #0000200553 Individual ID 00262070 Associated disease DRPLA Phenotype details progressive myoclonus epilepsy Diagnosis/Initial dentatorubral-pallidoluysian atrophy Inheritance Familial, autosomal dominant Diagnosis/Definite DRPLA Age/Examination - Age/Diagnosis - Age/Onset 14y 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 2019-08-17 12:26:57 +02:00 (CEST) Date last edited N/A

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