Global Variome shared LOVD

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

Phenotype #0000052870 Individual ID 00073199 Associated disease LGMD Phenotype details no myositis (-HP:0100614), Elevated serum creatine phosphokinase (HP:0003236) Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 26y (26 years) Age/Diagnosis - Age/Onset 16y Phenotype/Onset Difficulty climbing stairs (HP:0003551) Protein - Owner name Pieter Klap Database submission license No license selected Created by Pieter Klap Date created 2016-06-10 09:53:10 +02:00 (CEST) Date last edited 2016-10-11 12:31:54 +02:00 (CEST)

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