Phenotype #0000166384

Individual ID 00217934
Associated disease CCD
Phenotype details Core rod myopathy; mild facial weakness, hyperlordosis; bilateral contractures of Achilles tendons; difficulty running and climbing stairs and myalgia on exertion.; CPK not elevated (-HP:0003236); walk (2,5y), run
Diagnosis/Initial central core disease
Inheritance Unknown
Diagnosis/Definite CCD
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset hip dysplasia; delayed motor milestones
Protein -
Owner name Jorge Oliveira
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2010-12-13 17:25:52 +01:00 (CET)
Date last edited 2013-02-01 19:44:13 +01:00 (CET)

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