Global Variome shared LOVD

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

Phenotype #0000159662 Individual ID 00211179 Associated disease CILD Phenotype details no neonatal distress, rhinosinusitis, wet cough, no otitis media, no bronchiectasis, situs inversus, infertility unknown, protein losing enteropathy, complex congenital heart disease (unbalanced atrioventricular septal defect, congenitally corrected transposition great arteries, inferior vena cava conduit stenosis required stenting Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 08y (8 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2018-12-31 15:17:08 +01:00 (CET) Date last edited 2018-12-31 15:41:26 +01:00 (CET)

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