Phenotype #0000041387

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00054708
Associated disease	MDC
Phenotype details	infantile hypotonia, arthrogryposis, congenital hip dysplasia, gross motor delay, contractures, hyperkeratosis pilaris, prominent heels, hypertrophic scarring; CPK mild elevation (338); IHC COLVI; histology dystrophic
Diagnosis/Initial	-
Diagnosis/Definite	-
Inheritance	Familial, autosomal dominant
Age/Examination	5y (5 years)
Age/Diagnosis	-
Age/Onset	-
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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