Phenotype #0000319182

Individual ID	00428277
Associated disease	hydrops fetalis
Inheritance	Familial, autosomal recessive
Diagnosis/Initial	hydrops fetalis
Age/Examination	<0d
Diagnosis/Definite	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Phenotype details	pregnancy severe, progressive hydrops, 27w-intrauterine fetal death; ultrasound 12w+3-nuchal translucency 5.0, cystic hygroma subcutaneous fluid, 16w-hydrothorax, subcutaneous fluid, cystic hygroma, 26w-ascites; postmortem examination no cardiac abnormalities; short long bones, bell-shaped thorax (due to hydrothorax/hypoplastic lungs); no observed increase in number of lymphatic vessels; hydropic placenta, thick (2.9cm), weight 440g, abnormal vascular architecture/proliferation vessels
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2022-12-29 09:31:49 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD