Phenotype #0000319181

Individual ID	00428276
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, 24w-intrauterine fetal death; ultrasound 11w-normal, 19w+5 last menstrual period, 17w-screening hydrothorax, ascites, subcutaneous fluid; postmortem examination tetralogy of Fallot, 2w discrepancy estimated due date from last menstrual period and ultrasound, no observed increase in number of lymphatic vessels, hydropic placenta, thick (3cm), oedematous, weight 360g
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