Phenotype #0000085918

Individual ID 00108324
Associated disease RMD2
Phenotype details rippling, PIRCs, weakness proximal upper & lower limbs, mild hypertrophy, no pain, EMG myopathic features; CPK 1400
Diagnosis/Initial -
Inheritance Familial
Diagnosis/Definite -
Age/Examination -
Age/Diagnosis -
Age/Onset <8y
Phenotype/Onset tip toe walking & waddling gait
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 2008-09-29 23:21:03 +02:00 (CEST)
Date last edited 2017-03-31 14:13:45 +02:00 (CEST)

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