Phenotype #0000158984

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00210419
Associated disease	DSMA1
Phenotype details	Bilateral equinovarus foot
Diagnosis/Initial	distal spinal muscualr atrophy
Inheritance	Isolated (sporadic)
Diagnosis/Definite	DSMA-1
Age/Examination	-
Age/Diagnosis	-
Age/Onset	3m15d
Phenotype/Onset	respiratory distress
Protein	-
Owner name	Jorge Oliveira
Database submission license
Created by	Johan den Dunnen
Date created	2011-07-28 12:59:38 +02:00 (CEST)
Date last edited	2012-03-10 12:14:36 +01:00 (CET)

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