Global Variome shared LOVD

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Phenotype #0000053552 Individual ID 00073742 Associated disease MMD Phenotype details no scapular winging (-HP:0003691), unable to stand on tiptoes (HP:0004302), Gait disturbance (HP:0001288), Elevated serum creatine phosphokinase (HP:0003236), Reduced muscle fiber dysferlin (HP:0030115) Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 38y (38 years) Age/Diagnosis - Age/Onset 31y Phenotype/Onset - Protein - Owner name Pieter Klap Database submission license No license selected Created by Pieter Klap Date created 2016-06-22 09:53:17 +02:00 (CEST) Date last edited 2016-10-11 12:31:54 +02:00 (CEST)

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