Global Variome shared LOVD

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

Phenotype #0000303986 Individual ID 00411959 Associated disease myotonia Phenotype details myotonia; EMG myotonia; myopathy hands, myopathy orbicularis; Diagnosis/Initial non-dystrophic myotonia Inheritance Familial, autosomal dominant Diagnosis/Definite PGL5 Age/Examination - Age/Onset 4y 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 2022-06-20 13:19:24 +02:00 (CEST) Date last edited N/A

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