Global Variome shared LOVD

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Phenotype #0000053424 Individual ID 00073678 Associated disease LGMDR2;LGMD2B Phenotype details no scapular winging (-HP:0003691), unable to stand on tiptoes (HP:0004302), unable to rise from floor (HP:0004302), Elevated serum creatine phosphokinase (HP:0003236), Reduced muscle fiber dysferlin (HP:0030115) Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 20y (20 years) Age/Diagnosis - Age/Onset 19y Phenotype/Onset - Protein - Owner name Pieter Klap Database submission license No license selected Created by Pieter Klap Date created 2016-06-17 15:12:12 +02:00 (CEST) Date last edited 2016-10-11 12:31:54 +02:00 (CEST)

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