Global Variome shared LOVD

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Phenotype #0000314487 Individual ID 00423280 Associated disease AAAS Phenotype details neonatal onset alacrima; 1y9m-onset alacrima; learning disability, delayed walking, muscle weakness, delayed speech, excessive sweating Diagnosis/Initial triple A syndrome Inheritance Familial, autosomal recessive Diagnosis/Definite AAAS Age/Examination 2y9m (2 years, 9 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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