Global Variome shared LOVD

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

Phenotype #0000165116 Individual ID 00216664 Associated disease MYOP Phenotype details mask mechanical ventilation (5y); CPK elevated (HP:0003236) 4x; walk 15m; lost ability to walk (HP:0006957) 5y Diagnosis/Initial early onset myopathy Inheritance Isolated (sporadic) Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset 4m Phenotype/Onset hypotonia, head drop Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2012-02-17 20:05:39 +01:00 (CET) Date last edited 2012-03-09 19:17:22 +01:00 (CET)

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