Global Variome shared LOVD

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Phenotype #0000352556 Individual ID 00467349 Associated disease NDD Diagnosis/Initial neurodevelopmental delay, dyspnea Diagnosis/Definite MADD Phenotype details hypoglycemia, ketonuria, hyperammonemia, increased serum lactate, motor delay, exercise-induced muscle fatigue, pneumonia, dyspnea, decreased liver function, hepatomegaly Inheritance Familial, autosomal recessive Age/Examination - Age/Diagnosis - Age/Onset 2.5y 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 2025-10-12 14:40:38 +02:00 (CEST) Date last edited N/A

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