Phenotype #0000085992

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00108398
Associated disease	RMD2
Phenotype details	exertional stiffness legs (worsened by cold), recurrent pigmenturia, Achilles tendon contractures, generalized PIRCs (facial, neck, trunk, extremities), non-painfull slight muscle mounding, muscle rippling, no muscle hypertrophy calf; CPK 290
Diagnosis/Initial	-
Inheritance	Familial
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	-
Age/Onset	5y
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2003-01-18 17:03:34 +01:00 (CET)
Date last edited	2012-03-04 15:56:03 +01:00 (CET)

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