Phenotype #0000041382

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00054703
Associated disease	MDC
Phenotype details	generalised weakness, mild facial weakness, hypermobility and distal laxity, contractures, hyperkeratosis pilaris; CPK mild elevation (375-603); IHC COLVI; histology dystrophic
Diagnosis/Initial	-
Diagnosis/Definite	-
Inheritance	Familial, autosomal dominant
Age/Examination	22y (22 years)
Age/Diagnosis	-
Age/Onset	6m
Phenotype/Onset	-
Protein	-
Owner name	Shireen Lamandé
Database submission license	No license selected
Created by	Shireen Lamandé
Date created	2015-11-08 12:06:11 +01:00 (CET)
Date last edited	N/A

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