Global Variome shared LOVD

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

Phenotype #0000053556 Individual ID 00073746 Associated disease ? Diagnosis/Initial - Diagnosis/Definite - Phenotype details no scapular winging (-HP:0003691), Gait disturbance (HP:0001288), Elevated serum creatine phosphokinase (HP:0003236), Absent muscle fiber dysferlin (HP:0030114) Inheritance Familial, autosomal recessive Age/Examination 20y (20 years) Age/Diagnosis - Age/Onset 15y Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Pieter Klap Database submission license No license selected Created by Pieter Klap Date created 2016-06-22 13:02:40 +02:00 (CEST) Date last edited 2016-10-11 12:31:54 +02:00 (CEST)

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