Global Variome shared LOVD

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

Phenotype #0000058818 Individual ID 00079059 Associated disease GACI1 Phenotype details died after 9h; calcification aorta, pulmonary arteries; no periarticular calcifications; dilated RV and LV, decreased contractility , cardiomegaly; hydrops fetalis, ascites, pleural effusion; no hypophosphatemia 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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