Global Variome shared LOVD

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

Phenotype #0000052824 Individual ID 00073145 Associated disease ? Diagnosis/Initial dysferlinopathy Diagnosis/Definite - Phenotype details Difficulty running (HP:0009046), Elevated serum creatine phosphokinase (HP:0003236), normal echocardiogram (-HP:0003116), no arrhythmia (-HP:0011675), EMG: myopathic Vastus lateralis muscle (HP:0003458) Inheritance Familial, autosomal recessive Age/Examination 27y (27 years) Age/Diagnosis - Age/Onset 17y Phenotype/Onset Difficulty running (HP:0009046) Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Pieter Klap Database submission license No license selected Created by Pieter Klap Date created 2016-06-08 14:09:08 +02:00 (CEST) Date last edited 2017-09-08 13:02:04 +02:00 (CEST)

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