Phenotype #0000165940

Individual ID 00217490
Associated disease CCD
Phenotype details Predominantly axial and proximal weakness; mild scoliosis; CPK elevated (HP:0003236) 153 (19y)
Diagnosis/Initial CCD;MHS1
Inheritance Isolated (sporadic)
Diagnosis/Definite CCD
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2009-11-01 22:02:21 +01:00 (CET)
Date last edited 2012-03-09 19:02:29 +01:00 (CET)

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