Global Variome shared LOVD

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Phenotype #0000314486 Individual ID 00423279 Associated disease AAAS Phenotype details 2y5m-adrenal insufficiency; neonatal onset alacrima; 2y-onset achalasia; excessive sweating; palmoplantar hyperkeratosis, Diagnosis/Initial triple A syndrome Inheritance Familial, autosomal recessive Diagnosis/Definite AAAS Age/Examination 5y (5 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 2022-11-14 16:58:58 +01:00 (CET) Date last edited N/A

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