Phenotype #0000082311

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00104379
Associated disease	RSMD
Phenotype details	rigid spine syndrome; congenital muscle weakness, proximal, body size and weight below 3rd percentile, 2.5y when diagnosed
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	-
Age/Onset	2y6m
Phenotype/Onset	-
Protein	-
Owner name	Wolfram Kress
Database submission license	No license selected
Created by	Wolfram Kress
Date created	2011-05-02 16:38:34 +02:00 (CEST)
Date last edited	2012-03-09 19:32:06 +01:00 (CET)

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