Global Variome shared LOVD

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Phenotype #0000081987 Individual ID 00104045 Associated disease LGMDR25;LGMD2X Phenotype details see paper; ..., both sibs met early motor milestones; 5y both developed proximal weakness, with calf hypertrophy, macroglossia; weakness progressed to severe quadriparesis; 12y-both siblings required manual wheelchair and motorized wheelchair at 19y Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2017-05-05 19:37:43 +02:00 (CEST) Date last edited N/A

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