Global Variome shared LOVD

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Phenotype #0000347703 Individual ID 00459976 Associated disease peroxisomal acyl-CoA Phenotype details see paper; ..., 22m-walk with support, speech few words, 26m-regression; 4y-deceased (respiratory problems) Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite peroxisomal acyl-CoA oxidase deficiency Age/Examination 04y (4 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 2025-01-14 21:12:33 +01:00 (CET) Date last edited N/A

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