Global Variome shared LOVD

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Phenotype #0000203525 Individual ID 00265739 Associated disease EDS Inheritance Familial Diagnosis/Initial suspected EDS Age/Examination 13y (13 years) Diagnosis/Definite osteogenesis imperfecta/Ehlers-Danlos syndrome overlap Age/Onset - Phenotype/Onset - Phenotype details EDS-related features. OI-related features were limited to mildly reduced bone mass, occasional fractures and short stature Hearing/Loss - Protein - CK-level - EMG - Muscle/Biopsy - Age/Diagnosis - Owner name Lucia Micale Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International Created by Lucia Micale Date created 2019-10-02 12:20:38 +02:00 (CEST) Date last edited 2019-10-07 12:28:27 +02:00 (CEST)

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