Global Variome shared LOVD

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Phenotype #0000323893 Individual ID 00433373 Associated disease EDSKSCL2 Phenotype details 2nd degree kyphoscoliosis. Spina bifida sacralis dorsalis S3-S5. Bilateral nephroptosis. Mild bilateral hypermetropia. Open ductus arteriosus. Sinus arrhythmias. Diagnosis/Initial - Inheritance Unknown Diagnosis/Definite - Age/Examination - Age/Diagnosis 03y Age/Onset 00y17m Phenotype/Onset - Protein - Owner name Nassim Louail Database submission license Creative Commons Attribution 4.0 International Created by Nassim Louail Date created 2023-03-06 19:29:42 +01:00 (CET) Date last edited 2023-03-08 13:03:14 +01:00 (CET)

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