Global Variome shared LOVD

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Phenotype #0000052848 Individual ID 00073178 Associated disease ? Diagnosis/Initial dysferlinopathy Diagnosis/Definite - Phenotype details Proximal muscle weakness in upper limbs (HP:0008997), Limb-girdle muscular dystrophy (HP:0006785), no myositis (-HP:0100614), Elevated serum creatine phosphokinase (HP:0003236) Inheritance Familial, autosomal recessive Age/Examination 26y (26 years) Age/Diagnosis - Age/Onset 16y Phenotype/Onset Proximal muscle weakness in upper limbs (HP:0008997) Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Pieter Klap Database submission license No license selected Created by Pieter Klap Date created 2016-06-09 13:52:33 +02:00 (CEST) Date last edited 2017-09-08 13:02:04 +02:00 (CEST)

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