Global Variome shared LOVD

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Phenotype #0000125072 Individual ID 00102241 Associated disease MDC Phenotype details dystrophy, muscular, congenital; contractures knees/elbows, mild scoliosis, cognitive decline 18-24y; 21y-complex seizures; CPK: 762 U/L; w24m; wheelchair bound 18y Diagnosis/Initial dystrophy, muscular, congenital Diagnosis/Definite MDC-1A Inheritance Isolated (sporadic) Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset floppy infant, delayed motor development Protein IHC LAMA2 partially absent Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2007-10-08 08:33:43 +02:00 (CEST) Date last edited 2019-08-02 19:23:04 +02:00 (CEST)

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