Global Variome shared LOVD

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Phenotype #0000166330 Individual ID 00217880 Associated disease CCD Phenotype details Predominant proximal weakness; extra-ocular muscle involvement; CPK elevated (HP:0003236) 89; walk 18m;not sitting 14y Diagnosis/Initial CCD;CNM-ad Inheritance Isolated (sporadic) Diagnosis/Definite CCD Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset Hypotony, reduced antigravity movements, feeding problems Protein - Owner name Jorge Oliveira Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2010-09-23 18:21:33 +02:00 (CEST) Date last edited 2012-03-09 19:12:55 +01:00 (CET)

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