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 InternationalCreative Commons License
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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