Phenotype #0000318034

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00426896
Associated disease	myalgia
Phenotype details	exercise-related myalgia and muscle cramps, fatigue; no myoglobinuria, no rhabdomyolysis, no motor delay; normal strength, abnormal attention span and hyperactivity; no calf hypertrophy, no Gower sign; elevated CK (1252 - 2722 U/L)
Diagnosis/Initial	myalgia
Inheritance	Unknown
Diagnosis/Definite	-
Age/Examination	03y (3 years)
Age/Onset	02y
Phenotype/Onset	elevated liver function tests
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2022-12-03 09:21:41 +01:00 (CET)
Date last edited	N/A

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