Global Variome shared LOVD

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Phenotype #0000298218 Individual ID 00405715 Associated disease ? Diagnosis/Initial non-immune hydrops fetalis Diagnosis/Definite - Phenotype details severe, progressive hydrops, 27w-intrauterine fetal death; 12w+3 ultra sound nuchal translucency 5.0, cystic hygroma subcutaneous fluid; 16w ultra sound hydrothorax, subcutaneous fluid, cystic hygroma; 26w ascites; postmortem examination; no cardiac anomalies; short long bones, bell-shaped thorax (due to hydrothorax/hypoplastic lungs; no observed increase in number of lymphatic vessels; hydropic placenta, thick (2,9 cm), weight 440 g, abnormal vascular architecture/proliferation vessels 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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