Phenotype #0000041353

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00054674
Associated disease	MDC
Phenotype details	congenital hypotonia, gross motor delay, mild facial weakness, contractures, scoliosis; EPS consistent with myasthenic syndrome with increased jitter on SFEMG; CPK normal; IHC alphaDG; histology dystrophic
Diagnosis/Initial	-
Diagnosis/Definite	-
Inheritance	Familial, autosomal recessive
Age/Examination	13y (13 years)
Age/Diagnosis	-
Age/Onset	0d
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	N/A

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