Global Variome shared LOVD

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

Phenotype #0000041375 Individual ID 00054696 Associated disease MDC Phenotype details weakness, hypermobility and distal laxity; CPK mild elevation (265-306); histology dystrophic Diagnosis/Initial - Diagnosis/Definite - Inheritance Isolated (sporadic) Age/Examination 15y (15 years) Age/Diagnosis - Age/Onset 18m Phenotype/Onset - Protein - Owner name Shireen Lamandé Database submission license No license selected Created by Shireen Lamandé Date created 2015-11-08 12:06:11 +01:00 (CET) Date last edited N/A

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