Global Variome shared LOVD

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Phenotype #0000314489 Individual ID 00423282 Associated disease AAAS Phenotype details neonatal onset alacrima; 3y9m-onset alacrima; delayed walking, muscle weakness, delayed speech; multiple dental caries, short stature Diagnosis/Initial triple A syndrome Inheritance Familial, autosomal recessive Diagnosis/Definite AAAS Age/Examination 3y11m (3 years, 11 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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