Global Variome shared LOVD

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Phenotype #0000347702 Individual ID 00459975 Associated disease peroxisomal acyl-CoA Phenotype details see paper; ..., 32m-walk, 34m-regression; 11y-deaf, tube feeding Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite peroxisomal acyl-CoA oxidase deficiency Age/Examination 11y (11 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 21:05:46 +01:00 (CET) Date last edited N/A

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