Global Variome shared LOVD

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Phenotype #0000210557 Individual ID 00276001 Associated disease EDS Inheritance Familial, autosomal recessive Diagnosis/Initial Marfan syndrome Age/Examination 19y (19 years) Diagnosis/Definite Ehlers-Danlos syndrome (EDS) Age/Onset 19y Phenotype/Onset - Phenotype details atrophic scars, tall stature, arachnodactyly, severe myopia Hearing/Loss nr Protein reduced expression at western blot CK-level - EMG - Muscle/Biopsy - Age/Diagnosis 23y Owner name Edoardo Errichiello Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Edoardo Errichiello Date created 2020-01-23 11:07:36 +01:00 (CET) Date last edited 2022-05-30 12:40:09 +02:00 (CEST)

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