Phenotype #0000041361

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00054682
Associated disease	MDC
Phenotype details	gross motor delay, walked age 2y11m, facial weakness, distal laxity, contractures, scoliosis, rigid spine, dilated cardiomyopathy, restrictive lung disease; CPK normal; histology dystrophic
Diagnosis/Initial	-
Diagnosis/Definite	-
Inheritance	Familial, autosomal recessive
Age/Examination	11y (11 years)
Age/Diagnosis	-
Age/Onset	00y06m
Phenotype/Onset	-
Protein	-
Owner name	Sandra Cooper
Database submission license	No license selected
Created by	Sandra Cooper
Date created	2015-11-08 12:06:11 +01:00 (CET)
Date last edited	2019-10-11 14:18:59 +02:00 (CEST)

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