Global Variome shared LOVD

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Phenotype #0000298217 Individual ID 00405714 Associated disease ? Diagnosis/Initial non-immune hydrops fetalis Diagnosis/Definite - Phenotype details severe, progressive hydrops, 24w-intrauterine fetal death; 11w ultra sound normal, no measurement nuchal translucency; 19w+5 last menstrual period; 17w ultra sound screening hydrothorax, ascites, subcutaneous fluid; postmortem examination; Tetralogy of Fallot; 2-week discrepancy estimated due date from last menstrual period and from ultra-sound; no observed increase in number of lymphatic vessels; hydropic placenta, thick (3 cm), oedematous, weight 360 g Inheritance Familial, autosomal recessive Age/Examination <0d Age/Diagnosis - Age/Onset <0d Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Audrey Debue Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2022-03-21 10:19:15 +01:00 (CET) Date last edited N/A

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