Global Variome shared LOVD

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Phenotype #0000357243 Individual ID 00472433 Associated disease EDAID Diagnosis/Initial ectodermal dysplasiaand immunodeficiency Diagnosis/Definite EDAID2 Phenotype details see paper; ..., 2m-recurrent pneumonia; bronchiectasis; 10y-no bacteremia, no mycobacterial infections; slightly thin hair, recessed hairline, pegged teeth, coarse skin, heat intolerant, unable to sweat Inheritance Unknown Age/Examination 10y (10 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2026-02-13 09:03:44 +01:00 (CET) Date last edited N/A

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