Phenotype #0000130171

Individual ID 00165292
Associated disease MYOP
Phenotype details predominant axial and limb girdle weakness; 13y-severe kyphoscoliosis; CPK 134 U/l; 6m-sit, 11m-crawl, 2y6m-walk; 21y-loss ambulation
Diagnosis/Initial myopathy, congenital
Inheritance Isolated (sporadic)
Diagnosis/Definite -
Age/Examination -
Age/Diagnosis -
Age/Onset 15y
Phenotype/Onset keeping head straight
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 2012-10-26 11:01:20 +02:00 (CEST)
Date last edited 2012-10-26 17:55:59 +02:00 (CEST)

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