Global Variome shared LOVD

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Phenotype #0000078478 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 Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International 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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