Global Variome shared LOVD

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

Phenotype #0000052826 Individual ID 00073150 Associated disease ? Diagnosis/Initial dysferlinopathy Diagnosis/Definite - Phenotype details Difficulty toe walking (HP:0001288), 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 16y (16 years) Age/Diagnosis - Age/Onset 14y Phenotype/Onset Difficulty toe walking (HP:0001288) Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Pieter Klap Database submission license No license selected Created by Pieter Klap Date created 2016-06-08 14:32:44 +02:00 (CEST) Date last edited 2017-09-08 13:02:04 +02:00 (CEST)

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