Phenotype #0000130172

Individual ID 00165293
Associated disease MYOP
Phenotype details predominant axial and limb girdle weakness; 2y7m-hypotonia, hyperextension knees/elbows, waddling gait, Gowers’ sign; >5y-loss ambulation
Diagnosis/Initial myopathy, congenital
Inheritance Isolated (sporadic)
Diagnosis/Definite -
Age/Examination -
Age/Diagnosis -
Age/Onset 2y7m
Phenotype/Onset delayed motor development
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 18:08:11 +02:00 (CEST)
Date last edited N/A

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