Phenotype #0000041380

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00054701
Associated disease	MDC
Phenotype details	infantile onset, gross motor delay, distal laxity, contractures, hyperkeratosis pilaris, prominent heels; CPK mild elevation (245); IHC COLVI; histology dystrophic
Diagnosis/Initial	-
Diagnosis/Definite	-
Inheritance	Familial, autosomal recessive
Age/Examination	12y (12 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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