Global Variome shared LOVD

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Phenotype #0000343451 Individual ID 00454841 Associated disease AAAS Phenotype details see paper; ..., moderate intellectual disability; motor impairment; polyneuropathy; alacrima; achalasia; facial weakness; hypotonia; no tongue fasciculations; growth delay; epilepsy Diagnosis/Initial triple A syndrome Inheritance Familial, autosomal recessive Diagnosis/Definite AAAS2 Age/Examination 26y (26 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 2024-09-28 14:45:24 +02:00 (CEST) Date last edited N/A

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