Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000053423 Individual ID 00073677 Associated disease LGMDR2;LGMD2B Phenotype details no scapular winging (-HP:0003691), unable to stand on tiptoes (HP:0004302), Gowers sign (HP:0003391), Elevated serum creatine phosphokinase (HP:0003236), Absent muscle fiber dysferlin (HP:0030114), Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination >25y (later than 25 years) Age/Diagnosis - Age/Onset >21y Phenotype/Onset - Protein - Owner name Pieter Klap Database submission license No license selected Created by Pieter Klap Date created 2016-06-17 14:59:58 +02:00 (CEST) Date last edited 2016-10-11 12:31:54 +02:00 (CEST)

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