Global Variome shared LOVD

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Phenotype #0000321752 Individual ID 00431143 Associated disease EDSCL1 Diagnosis/Initial - Diagnosis/Definite - Phenotype details Easy bruising, unresolved pre-tibial hematoma, multiple ecchymoses, joint hypermobility and polyarthralgia were noted since childhood. Beighton score of 7. Inheritance Unknown Age/Examination 04y (4 years) Age/Diagnosis 05y Age/Onset - Phenotype/Onset - Owner name Nassim Louail Database submission license Creative Commons Attribution 4.0 International Created by Nassim Louail Date created 2023-01-29 22:51:22 +01:00 (CET) Date last edited 2023-03-08 12:59:27 +01:00 (CET)

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