Global Variome shared LOVD

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

Phenotype #0000166250 Individual ID 00217800 Associated disease CCD Phenotype details facial weakness; muscle hypotrophy; CPK not elevated (-HP:0003236) Diagnosis/Initial central core disease Inheritance Familial, autosomal recessive Diagnosis/Definite CCD Age/Examination - Age/Diagnosis 42y Age/Onset - Phenotype/Onset - Protein - Owner name Jorge Oliveira Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2010-05-27 17:49:16 +02:00 (CEST) Date last edited 2012-03-09 19:32:06 +01:00 (CET)

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