Global Variome shared LOVD

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Phenotype #0000342151 Individual ID 00453493 Associated disease MADD Phenotype details see paper; ..., birth 32w-urgent caesarean section due to cardiotocographic alterations in primigravida, 31w-pregnancy complicated by oligo-hydramnios, intrauterine fetal growth retardation, significantly hypotonic, weight 1470g (24th centile), length 40cm (21st centile), OFC 31cm (84th centile) Diagnosis/Initial multiple acyl-CoA dehydrogenase deficiency Inheritance Familial, autosomal recessive Diagnosis/Definite MADD 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 2024-09-07 20:01:30 +02:00 (CEST) Date last edited N/A

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