Global Variome shared LOVD

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Phenotype #0000347733 Individual ID 00460006 Associated disease peroxisomal acyl-CoA Phenotype details see paper; ..., white matter abnormalities; 3m-seizures; dysmorphism; 5y6m regression Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite peroxisomal acyl-CoA oxidase deficiency Age/Examination 8y8m (8 years, 8 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 2025-01-15 16:11:50 +01:00 (CET) Date last edited N/A

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