Phenotype #0000058560

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00078801
Associated disease	hCK
Phenotype details	left facial palsy caused by a schwannoma; no muscle wasting/weakness; 15y-myopathy, central nuclei, increased variability, regenerating fibers, no necrotic fibers fiber size; raised CPK (HP:0003236) 2700-25000; >17y walking (-HP:0006957)
Diagnosis/Initial	-
Inheritance	Isolated (sporadic)
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	-
Age/Onset	13y
Phenotype/Onset	facial dysmorphism, prominent jaw
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2012-11-16 15:05:12 +01:00 (CET)
Date last edited	N/A

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