Phenotype #0000052978

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00073303
Associated disease	MMD
Phenotype details	Proximal muscle weakness (HP:0003701), Elevated serum creatine phosphokinase (HP:0003236), no inflammatory myopathy (-HP:0009071), Lower limb amyotrophy (HP:0007210), proximal muscle weakness (HP:0003701),
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	27y (27 years)
Age/Diagnosis	-
Age/Onset	15y
Phenotype/Onset	Proximal muscle weakness (HP:0003701), Elevated serum creatine phosphokinase (HP:0003236)
Protein	-
Owner name	Pieter Klap
Database submission license	No license selected
Created by	Pieter Klap
Date created	2016-06-10 14:09:32 +02:00 (CEST)
Date last edited	2016-10-11 12:31:54 +02:00 (CEST)