Global Variome shared LOVD

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Phenotype #0000326934 Individual ID 00437014 Associated disease DMD Phenotype details see paper; ..., pregnancy complicated (threatened miscarriage first trimester, birth 38w-elective caesarean section, weight 3200 g (25-50th centile), length 51 cm (50-75th centile) , OFC 34.5 cm (50th centile), cyanosis, respiratory distress, delay acquisition physiological motor milestones; 7m-unable to hold his head/sit up unassisted; 10m-global developmental delay, high blood transaminases levels Diagnosis/Initial - Inheritance Familial, X-linked recessive Diagnosis/Definite DMD;GKD;ID Age/Examination - Age/Onset - Phenotype/Onset - Age/Diagnosis - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2023-10-11 19:34:57 +02:00 (CEST) Date last edited N/A

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