Global Variome shared LOVD

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Phenotype #0000333066 Individual ID 00443792 Associated disease ? Diagnosis/Initial - Diagnosis/Definite - Phenotype details see paper; ..., 34w+6 late onset nonimmune hydrops fetalis with polyhydramnios, right-sided hydrothorax; birth at term emergency cesarean section; 1d-extensive subcutaneous edema (especially head and neck region), no dysmorphic features; 1y-normal mental development, normal psychomotor development. ; maternal obstetric history 10wg-spontaneous abortion, 33wg-intrauterine fetal death (nonimmune hydrops fetalis with hydrothorax (mosaic trisomy 20) Inheritance Familial, autosomal recessive Age/Examination 01y (1 year) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2023-12-02 16:56:45 +01:00 (CET) Date last edited N/A

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