Global Variome shared LOVD

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

Phenotype #0000231912 Individual ID 00306064 Associated disease MD Phenotype details max milestone 3y1m-walk; no contractures; lordosis; elevated CK level (highest 2595 U/L); ECG-sinus arrhythmia, atrial premature beat; UCG-patent foramen ovale; EMG-myogenic; muscle biopsy 2.5y-dystrophic Diagnosis/Initial Emery-Dreifuss muscular dystrophy Inheritance Isolated (sporadic) Diagnosis/Definite EDMD2 Age/Examination 3y1m (3 years, 1 month) Age/Diagnosis - Age/Onset 1y3m 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 2020-07-07 09:28:36 +02:00 (CEST) Date last edited N/A

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