Global Variome shared LOVD

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Phenotype #0000366935 Individual ID 00484156 Associated disease MADD Phenotype details see paper; ..., expanded newborn screening VLCAD deficiency/isovaleric acidemia; 3m-vocal cord paralysis, dyspnea with stridor; 4m-bedridden due to hypoxic-ischemic encephalopathy due to fulminant respiratory failure with aspiration pneumonia Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite LSMFLAD Age/Examination - 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 2026-08-28 17:14:06 +02:00 (CEST) Date last edited N/A

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