Phenotype #0000078478

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00100242
Associated disease	SMDP2
Phenotype details	see paper; ..., onset symptoms early infancy, progressive respiratory failure with need for prolonged mechanical ventilatory support, 1y-lung transplant
Diagnosis/Initial	-
Inheritance	Unknown
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2017-02-07 22:16:48 +01:00 (CET)
Date last edited	N/A

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