Global Variome shared LOVD

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Phenotype #0000326939 Individual ID 00437019 Associated disease DMD Phenotype details see paper; ..., uncomplicated pregnancy, birth 39w, weight of 3050g, length 50cm, OFC 34cm; neonatal, weight loss, dehydration; 4m-failure to thrive, strabismus convergens, axial hypotonia, increased muscle tone extremities, normal deep tendon reflexes; elevated CK (10.818 U/L); distal hypertonia, intellectual disability; 22m-developmental delay, delayed motor skills Diagnosis/Initial - Inheritance Unknown Diagnosis/Definite DMD;GKD Age/Examination 02y (2 years) 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 21:43:17 +02:00 (CEST) Date last edited 2023-10-11 22:01:20 +02:00 (CEST)

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