Global Variome shared LOVD

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Phenotype #0000314485 Individual ID 00423278 Associated disease AAAS Phenotype details 3y-adrenal insufficiency; neonatal onset alacrima; 3y3m-onset achalasia; learning disability, delayed walking, muscle weakness, delayed speech, excessive sweating; multiple dental caries, palmoplantar hyperkeratosis, atrophy of the thenar/hypothenar muscles Diagnosis/Initial triple A syndrome Inheritance Familial, autosomal recessive Diagnosis/Definite AAAS Age/Examination 6y4m (6 years, 4 months) 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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