Global Variome shared LOVD

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Phenotype #0000302314 Individual ID 00410210 Associated disease ACADVLD Phenotype details see paper; ..., newborn screening, metabolic decompensation Diagnosis/Initial very long chain acyl-CoA dehydrogenase deficiency Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 5y6m (5 years, 6 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 2022-05-20 14:41:28 +02:00 (CEST) Date last edited N/A

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