Global Variome shared LOVD

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

Phenotype #0000036758 Individual ID 00050146 Associated disease CILD29 Phenotype details all suffer from respiratory symptoms due to recurrent upper/lower airway infections; bronchiectasis already present in early childhood, progressed with age; lung function values decrease over time; 2 individuals lung transplantation (terminal respiratory failure 34y); 11 individuals nasal nitric oxide values markedly reduced (<100 parts/billion); 12/16 individuals (75%) respiratory distress after birth; in 2 families siblings died in early childhood; 1 female infertility, assisted reproduction to become pregnant; all individuals displayed situs solitus, no left-right body asymmetry Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination - 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 2015-09-26 17:30:25 +02:00 (CEST) Date last edited N/A

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