Global Variome shared LOVD

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Phenotype #0000357262 Individual ID 00472452 Associated disease acidosis, lactic Diagnosis/Initial congenital lactic acidosis Diagnosis/Definite MC1DN20 Phenotype details see paper; ... Inheritance Familial, autosomal recessive Age/Examination 36h Age/Diagnosis - Age/Onset - Phenotype/Onset - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2026-02-18 09:53:54 +01:00 (CET) Date last edited N/A

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