Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000058802 Individual ID 00079043 Associated disease GACI1 Phenotype details calcification diverse arteries; dilated ivc, poor biventricular systolic function, dilated RA and RV, small PFO, small pda with left to right shunt, hypotension,; hydrops fetalis, liver dysfunction, ascites, retinal haemorrhage Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Yvonne Nitschke Database submission license No license selected Created by Yvonne Nitschke Date created 2016-07-15 10:44:28 +02:00 (CEST) Date last edited N/A

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