Global Variome shared LOVD

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

Phenotype #0000223031 Individual ID 00289419 Associated disease ? Diagnosis/Initial - Diagnosis/Definite - Phenotype details Abnormality of muscle physiology (HP:0011804); Elevated serum creatine phosphokinase (HP:0003236); Abnormal levels of creatine kinase in blood (HP:0040081); Proximal muscle weakness in lower limbs (HP:0008994) Inheritance Unknown Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Andreas Laner Database submission license Creative Commons Attribution 4.0 International Created by Andreas Laner Date created 2020-03-09 11:33:28 +01:00 (CET) Date last edited 2020-04-02 12:33:15 +02:00 (CEST)

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